Julkaisut

Neurotrophic-tyrosine receptor kinase gene fusion in papillary thyroid cancer: A clinicogenomic biobank and record linkage study from Finland.

Zhang W, Schmitz AA, Kallionpää RE, Perälä M, Pitkänen N, Tukiainen M, Alanne E, Jöhrens K, Schulze-Rath R, Farahmand B, Zong J.Oncotarget. 2024 Feb 5;15:106-116. doi: 10.18632/oncotarget.28555.PMID: 38329731

Use of electronic health record data mining for heart failure subtyping

Vuori MA, Kiiskinen T, Pitkänen N, Kurki S, Laivuori H, Laitinen T, Mäntylahti S, Palotie A, FinnGen, Niiranen TJ. BMC Res Notes. 2023 Sep 11;16(1):208. doi: 10.1186/s13104-023-06469-x. PMID: 37697398; PMCID: PMC10496250.

Characterization of clinicopathological features, treatment practices, and outcomes among Finnish advanced breast cancer patients in real-life clinical practice

Heinolainen K, Saarinen S, Vertuani S, Ellonen A, Karlsson A, Utriainen M, Carlqvist P, Mandelin J, Holm B. J Cancer Res Clin Oncol. 2023 May 13. doi: 10.1007/s00432-023-04723-0. Online ahead of print. PMID: 37178424

Smoking is an Independent Marker of Poor Prognosis in Cutaneous Melanoma

Mattila K, Vihinen H, Karlsson A, Minn H, Vihinen P, Heervä E. Acta Derm Venereol. 2023 Feb 7;103:adv00860. doi: 10.2340/actadv.v103.3209. PMID: 36748330

FinnGen provides genetic insights from a well-phenotyped isolated population

Mitja I Kurki, Juha Karjalainen, Priit Palta, Timo P Sipilä, Kati Kristiansson, Kati M Donner, Mary P Reeve, Hannele Laivuori, Mervi Aavikko, Mari A Kaunisto, Anu Loukola, Elisa Lahtela, Hannele Mattsson, Päivi Laiho, Pietro Della Briotta Parolo, Arto A Lehisto, Masahiro Kanai, Nina Mars, Joel Rämö, Tuomo Kiiskinen, Henrike O Heyne, Kumar Veerapen, Sina Rüeger, Susanna Lemmelä, Wei Zhou, Sanni Ruotsalainen, Kalle Pärn, Tero Hiekkalinna, Sami Koskelainen, Teemu Paajanen, Vincent Llorens, Javier Gracia-Tabuenca, Harri Siirtola, Kadri Reis, Abdelrahman G Elnahas, Benjamin Sun, Christopher N Foley, Katriina Aalto-Setälä, Kaur Alasoo, Mikko Arvas, Kirsi Auro, Shameek Biswas, Argyro Bizaki-Vallaskangas, Olli Carpen, Chia-Yen Chen, Oluwaseun A Dada, Zhihao Ding, Margaret G Ehm, Kari Eklund, Martti Färkkilä, Hilary Finucane, Andrea Ganna, Awaisa Ghazal, Robert R Graham, Eric M Green, Antti Hakanen, Marco Hautalahti, Åsa K Hedman, Mikko Hiltunen, Reetta Hinttala, Iiris Hovatta, Xinli Hu, Adriana Huertas-Vazquez, Laura Huilaja, Julie Hunkapiller, Howard Jacob, Jan-Nygaard Jensen, Heikki Joensuu, Sally John, Valtteri Julkunen, Marc Jung, Juhani Junttila, Kai Kaarniranta, Mika Kähönen, Risto Kajanne, Lila Kallio, Reetta Kälviäinen, Jaakko Kaprio; FinnGen; Nurlan Kerimov, Johannes Kettunen, Elina Kilpeläinen, Terhi Kilpi, Katherine Klinger, Veli-Matti Kosma, Teijo Kuopio, Venla Kurra, Triin Laisk, Jari Laukkanen, Nathan Lawless, Aoxing Liu, Simonne Longerich, Reedik Mägi, Johanna Mäkelä, Antti Mäkitie, Anders Malarstig, Arto Mannermaa, Joseph Maranville, Athena Matakidou, Tuomo Meretoja, Sahar V Mozaffari, Mari E K Niemi, Marianna Niemi, Teemu Niiranen, Christopher J O Donnell, Ma En Obeidat, George Okafo, Hanna M Ollila, Antti Palomäki, Tuula Palotie, Jukka Partanen, Dirk S Paul, Margit Pelkonen, Rion K Pendergrass, Slavé Petrovski, Anne Pitkäranta, Adam Platt, David Pulford, Eero Punkka, Pirkko Pussinen, Neha Raghavan, Fedik Rahimov, Deepak Rajpal, Nicole A Renaud, Bridget Riley-Gillis, Rodosthenis Rodosthenous, Elmo Saarentaus, Aino Salminen, Eveliina Salminen, Veikko Salomaa, Johanna Schleutker, Raisa Serpi, Huei-Yi Shen, Richard Siegel, Kaisa Silander, Sanna Siltanen, Sirpa Soini, Hilkka Soininen, Jae Hoon Sul, Ioanna Tachmazidou, Kaisa Tasanen, Pentti Tienari, Sanna Toppila-Salmi, Taru Tukiainen, Tiinamaija Tuomi, Joni A Turunen, Jacob C Ulirsch, Felix Vaura, Petri Virolainen, Jeffrey Waring, Dawn Waterworth, Robert Yang, Mari Nelis, Anu Reigo, Andres Metspalu, Lili Milani, Tõnu Esko, Caroline Fox, Aki S Havulinna, Markus Perola, Samuli Ripatti, Anu Jalanko, Tarja Laitinen, Tomi P Mäkelä, Robert Plenge, Mark McCarthy, Heiko Runz, Mark J Daly, Aarno Palotie Nature 2023 Jan;613(7944):508-518. doi: 10.1038/s41586-022-05473-8. Epub 2023 Jan 18.

Recontacting biobank participants to collect lifestyle, behavioural and cognitive information via online questionnaires: lessons from a pilot study within FinnGen

Rodosthenous RS, Niemi MEK, Kallio L, Perala M, Terho P, Knopp T, Punkka E, Makkonen EM, Nurmi P, Makela J, Wihuri P, Hautalahti M, Moffatt C, Martini P, Germine L, Makela VA, Karhunen OA, Lahti J, Hiekkalinna TS, Jyrhama T, Shen HY, Runz H, Palotie A, Perola M, Ganna A; FinnGen. BMJ Open. 2022 Oct 5;12(10):e064695. doi: 10.1136/bmjopen-2022-064695.

An assessment of prevalence of Type 1 CFI rare variants in European AMD, and why lack of broader genetic data hinders development of new treatments and healthcare access

Jones AV, Curtiss D, Harris C, Southerington T, Hautalahti M, Wihuri P, Mäkelä J, Kallionpää RE, Makkonen E, Knopp T, Mannermaa A, Mäkinen E, Moilanen AM, Tezel TH; SCOPE Study group, Waheed NK. PLoS One. 2022 Sep 6;17(9):e0272260. doi: 10.1371/journal.pone.0272260. eCollection 2022. PMID: 36067162

Automated detection of pulmonary embolism from CT-angiograms using deep learning

Huhtanen H, Nyman M, Mohsen T, Virkki A, Karlsson A, Hirvonen J. BMC Med Imaging. 2022 Mar 14;22(1):43. doi: 10.1186/s12880-022-00763-z.

ASIC-E4: Interplay of beta-amyloid, synaptic density and neuroinflammation in cognitively normal volunteers with three levels of genetic risk for late-onset Alzheimer’s disease – Study protocol and baseline characteristics

Anniina Snellman, Laura L. Ekblad, Mikko Koivumäki, Noora Lindgrén, Jouni Tuisku, Merja Perälä, Lila Kallio, Riina Lehtonen, Virva Saunavaara, Jani Saunavaara, Vesa Oikonen, Richard Aarnio, Eliisa Löyttyniemi, Riitta Parkkola, Mira Karrasch, Henrik Zetterberg, Kaj Blennow and Juha Rinne Frontiers of Neurology 2022

Increased incidence of melanoma in children and adolescents in Finland in 1990-2014: nationwide re-evaluation of histopathological characteristics

Rousi EK, Kallionpää RA, Kallionpää RE, Juteau SM, Talve LAI, Hernberg MM, Vihinen PP, Kähäri VM, Koskivuo IO. Ann Med. 2022 Dec;54(1):244-252. doi: 10.1080/07853890.2022.2026001.

Prediagnostic expressions in health records predict mortality in Parkinson's disease: A proof-of-concept study

Kuusimäki T, Sainio J, Kurki S, Vahlberg T, Kaasinen V. Parkinsonism Relat Disord. 2022 Jan 1;95:35-39. doi: 10.1016/j.parkreldis.2021.12.015. Online ahead of print.

Documentation of the patient's smoking status in common chronic diseases - analysis of medical narrative reports using the ULMFiT based text classification

Hirvonen E, Karlsson A, Saaresranta T, Laitinen T. Eur Clin Respir J. 2021 Nov 23;8(1):2004664. doi: 10.1080/20018525.2021.2004664. eCollection 2021. PMID: 34868489

Comorbidity of Dermal and Cardiovascular Disorders with Lichen Sclerosus: A Case-control Study

Hieta N, Rintala M, Söderlund JM, Samu K, Orte K, Hietanen S. Acta Derm Venereol. 2021 Oct 18. doi: 10.2340/actadv.v101.433. Online ahead of print.

Cargo-specific recruitment in clathrin- and dynamin-independent endocytosis

Moreno-Layseca P, Jäntti NZ, Godbole R, Sommer C, Jacquemet G, Al-Akhrass H, Conway JRW, Kronqvist P, Kallionpää RE, Oliveira-Ferrer L, Cervero P, Linder S, Aepfelbacher M, Zauber H, Rae J, Parton RG, Disanza A, Scita G, Mayor S, Selbach M, Veltel S, Ivaska J. Nat Cell Biol. 2021 Oct;23(10):1073-1084. doi: 10.1038/s41556-021-00767-x. Epub 2021 Oct 6.

Identification of metastatic primary cutaneous squamous cell carcinoma utilizing artificial intelligence analysis of whole slide images

Knuutila JS, Riihilä P, Karlsson A, Tukiainen M, Talve L, Nissinen L, Kähäri V-M Sci Rep. 2022 Jun 14;12(1):9876. doi: 10.1038/s41598-022-13696-y

Cargo-specific recruitment in clathrin- and dynamin-independent endocytosis

Paulina Moreno-Layseca, Niklas Z Jäntti, Rashmi Godbole, Christian Sommer, Guillaume Jacquemet, Hussein Al-Akhrass, James R W Conway, Pauliina Kronqvist, Roosa E Kallionpää, Leticia Oliveira-Ferrer, Pasquale Cervero, Stefan Linder, Martin Aepfelbacher, Henrik Zauber, James Rae, Robert G Parton, Andrea Disanza, Giorgio Scita, Satyajit Mayor, Matthias Selbach, Stefan Veltel, Johanna Ivaska PMID: 34616024 DOI: 10.1038/s41556-021-00767-x

Sugar-Sweetened Beverage Consumption May Modify Associations Between Genetic Variants in the CHREBP (Carbohydrate Responsive Element Binding Protein) Locus and HDL-C (High-Density Lipoprotein Cholesterol) and Triglyceride Concentrations.

Haslam DE, Peloso GM, Guirette M, Imamura F, Bartz TM, Pitsillides AN, Wang CA, Li-Gao R, Westra JM, Pitkänen N, Young KL, Graff M, Wood AC, Braun KVE, Luan J, Kähönen M, Kiefte-de Jong JC, Ghanbari M, Tintle N, Lemaitre RN, Mook-Kanamori DO, North K, Helminen M, Mossavar-Rahmani Y, Snetselaar L, Martin LW, Viikari JS, Oddy WH, Pennell CE, Rosendall FR, Ikram MA, Uitterlinden AG, Psaty BM, Mozaffarian D, Rotter JI, Taylor KD, Lehtimäki T, Raitakari OT, Livingston KA, Voortman T, Forouhi NG, Wareham NJ, de Mutsert R, Rich SS, Manson JE, Mora S, Ridker PM, Merino J, Meigs JB, Dashti HS, Chasman DI, Lichtenstein AH, Smith CE, Dupuis J, Herman MA, McKeown NM. Circ Genom Precis Med. 2021 Aug;14(4):e003288. doi: 10.1161/CIRCGEN.120.003288. Epub 2021 Jul 16. PMID: 34270325

Expression of Transcription Factor CREM in Human Tissues.

Kaprio H, Heuser VD, Orte K, Tukiainen M, Leivo I, Gardberg M.
J Histochem Cytochem. 2021 Aug;69(8):495-509. doi: 10.1369/00221554211032008. Epub 2021 Jul 14.

Impact of deep learning-determined smoking status on mortality of cancer patients: never too late to quit.

Karlsson A, Ellonen A, Irjala H, Väliaho V, Mattila K, Nissi L, Kytö E, Kurki S, Ristamäki R, Vihinen P, Laitinen T, Ålgars A, Jyrkkiö S, Minn H, Heervä E. ESMO Open. 2021 Jun;6(3):100175. doi: 10.1016/j.esmoop.2021.100175. Epub 2021 Jun 3.

The Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS): Evaluation of a prototype in Finnish Gaucher disease patients and feasibility of screening retrospective electronic health record data for the recognition of potential undiagnosed patients in Finland.

Savolainen MJ, Karlsson A, Rohkimainen S, Toppila I, Lassenius MI, Falconi CV, Uusi-Rauva K, Elomaa K.
Mol Genet Metab Rep. 2021 Feb 9;27:100725. doi: 10.1016/j.ymgmr.2021.100725. eCollection 2021 Jun. PMID: 33604241

Are Breast Cancer Nomograms Still Valid to Predict the Need for Axillary Dissection?

Madekivi V, Karlsson A, Boström P, Salminen E.
Oncology. 2021 Mar 10:1-5. doi: 10.1159/000514616.

Effects of Randomized Controlled Infancy-Onset Dietary Intervention on Leukocyte Telomere Length—The Special Turku Coronary Risk Factor Intervention Project (STRIP)

Pitkänen, N.; Pahkala, K.; Rovio, S.P.; Saijonmaa, O.J.; Nyman, A.E.; Jula, A.; Lagström, H.; Viikari, J.S.A.; Rönnemaa, T.; Niinikoski, H.; et al. Nutrients 2021, 13, 318. https://doi.org/10.3390/nu13020318

Increased Risk of Parkinson's Disease in Patients With Schizophrenia Spectrum Disorders

Kuusimäki T, Al-Abdulrasul H, Kurki S, Hietala J, Hartikainen S, Koponen M, Tolppanen A-M, Kaasinen V Mov Disord . 2021 Jan 6. doi: 10.1002/mds.28484. Online ahead of print.

IL-6 and other biomarkers as predictors of severity in COVID-19.

Broman N, Rantasärkkä K, Feuth T, Valtonen M, Waris M, Hohenthal U, Rintala E, Karlsson A, Marttila H, Peltola V, Vuorinen T, Oksi J.
Ann Med. 2021 Dec;53(1):410-412. doi: 10.1080/07853890.2020.1840621

Cancer cell line microarray as a novel screening method for identification of radioresistance biomarkers in head and neck squamous cell carcinoma

Routila J, Suvila K, Grénman R, Leivo I, Westermarck J, Ventelä S
BMC Cancer . 2021 Jul 29;21(1):868. doi: 10.1186/s12885-021-08618-6.

Stromal interaction molecule 1 (STIM1) knock down attenuates invasion and proliferation and enhances the expression of thyroid-specific proteins in human follicular thyroid cancer cells

Muhammad Yasir Asghar, Taru Lassila, Ilkka Paatero, Van Dien Nguyen, Pauliina Kronqvist, Jixi Zhang , Anna Slita, Christoffer Löf , You Zhou, Jessica Rosenholm, Kid Törnquist Cell Mol Life Sci . 2021 Aug;78(15):5827-5846. doi: 10.1007/s00018-021-03880-0. Epub 2021 Jun 21.

Pharmacogenetics of bleeding and thromboembolic events in direct oral anticoagulant users

Lähteenmäki J, Vuorinen AL, Pajula J, Harno K, Lehto M, Niemi M, Van Gils M. Clin Pharmacol Ther. 2021 May 27. doi: 10.1002/cpt.2316.

Sleep apnoea is a risk factor for severe COVID-19

Satu Strausz, Tuomo Kiiskinen, Martin Broberg, Sanni Ruotsalainen, Jukka Koskela, Adel Bachour, FinnGen; Aarno Palotie, Tuula Palotie, Samuli Ripatti, Hanna M Ollila BMJ Open Respir Res 2021 Jan;8(1):e000845. doi: 10.1136/bmjresp-2020-000845.

Integrating data from multiple Finnish biobanks and national health-care registers for retrospective studies: Practical experiences.

Lähteenmäki J, Vuorinen AL, Pajula J, Harno K, Lehto M, Niemi M, Van Gils M. Scand J Public Health. 2021 Apr 12:14034948211004421. doi: 10.1177/14034948211004421.

TKTL1 as a Prognostic Marker in Pancreatic Ductal Adenocarcinoma and Its Correlation with FDG-PET-CT.

Ahopelto K, Saukkonen K, Hagström J, Kauhanen S, Seppänen H, Böckelman C, Haglund C. Oncology. 2021;99(3):177-185. doi: 10.1159/000510862. Epub 2020 Oct 29.

Efficacy and tolerability of folateaminopterin therapy in a rat focal model of multiple sclerosis

Petri Elo, Xiang-Guo Li, Heidi Liljenbäck, Maria Gardberg, Olli Moisio, Maxwell Miner, Jenni Virta, Antti Saraste, Madduri Srinivasarao, Michael Pugh, Philip S. Low, Juhani Knuuti, Sirpa Jalkanen, Laura Airas, Yingjuan June Lu and Anne Roivainen
Journal of Neuroinflammation 2021 doi.org/10.1186/s12974-021-02073-7

Pharmacogenetics of Anticoagulation and Clinical Events in Warfarin-Treated Patients: A Register-Based Cohort Study with Biobank Data and National Health Registries in Finland

Anna-Leena Vuorinen, Mika Lehto, Mikko Niemi, Kari Harno, Juha Pajula, Mark van Gils, Jaakko Lähteenmäki
Clinical Epidemiology 2021:13 183–195

Sex-Dependent Improvement in Survival of Parkinson's Disease Patients.

Kuusimäki T, Kurki S, Sipilä JOT, Salminen-Mankonen H, Carpén O, Kaasinen V.
Mov Disord Clin Pract. 2020 Apr 27;7(5):516-520. doi: 10.1002/mdc3.12954. eCollection 2020 Jul.

Development of self-assessed work ability among middle-aged asthma patients-a 10 year follow-up study.

Hirvonen E, Karlsson A, Kilpeläinen M, Lindqvist A, Laitinen T.
J Asthma. 2020 May 13:1-9. doi: 10.1080/02770903.2020.1759089. Online ahead of print.

Prognosis of patients with mesothelioma by expression of programmed cell death ligand 1 and mesothelin in a contemporary cohort in Finland

Vizcaya D, Farahmand B, Walter A, Kneip C, Jöhrens K, Tukiainen M, Schmitz A. Cancer Treatment and Research Communications 2020 Vol 25 https://doi.org/10.1016/j.ctarc.2020.100260

Risk Factors and Prognosis for Metastatic Cutaneous Squamous Cell Carcinoma: A Cohort Study

Knuutila JS, Riihilä P, Kurki S, Nissinen L, Kähäri VM.
Acta Derm Venereol. 2020 Sep 23;100(16):adv00266. doi: 10.2340/00015555-3628. PMID: 3293034

A prognostic model based on cell-cycle control predicts outcome of breast cancer patients.

Repo H, Löyttyniemi E, Kurki S, Kallio L, Kuopio T, Talvinen K, Kronqvist P.
BMC Cancer. 2020 Jun 16;20(1):558. doi: 10.1186/s12885-020-07045-3. PMID: 32546141

An easily adaptable validated risk score predicts cancer-specific survival in stage II colon cancer.

Eetu Heervä, Vesa Väliaho, Tapio Salminen, Lasse Nieminen, Anu Carpelan, Samu Kurki, Jari Sundström, Heikki Huhtinen, Arto Rantala, Olli Carpén, Heikki Minn, Pia Österlund, Annika Ålgars, Raija Ristamäki Acta Oncol. 2020 Oct 12;1-5. doi: 10.1080/0284186X.2020.1831062.

High tumor mutation burden predicts favorable outcome among patients with aggressive histological subtypes of lung adenocarcinoma: A population-based single-institution study.

Talvitie E-M, Vilhonen H, Kurki S, Karlsson A, Orte K, Almangush A, Mohamed H, Liljeroos L, Singh Y, Leivo I, Laitinen T, Kallajoki M, Taimen P. Neoplasia. 2020 Sep;22(9):333-342. doi: 10.1016/j.neo.2020.05.004. Epub 2020 Jun 22.

Can a machine-learning model improve the prediction of nodal stage after a positive sentinel lymph node biopsy in breast cancer?

Madekivi V, Boström P, Karlsson A, Aaltonen R, Salminen E.
Acta Oncologica 2020, 59: 6, 689–695. https://www.tandfonline.com/doi/full/10.1080/0284186X.2020.1736332 .

Hepatocyte Growth Factor Receptor overexpression predicts reduced survival but its targeting is not effective in unselected HNSCC patients.

Khan M, Khaznadar SS, Routila J, Ventelä S, Schmid E, Gebhart B, Becker ET, Roider HG, Perala M, Schmitz AA, Krahn T, von Ahsen O.
Head Neck. 2020 Jan 10. doi: 10.1002/hed.26049.

Genomic prediction of alcohol-related morbidity and mortality

Tuomo Kiiskinen, Nina J. Mars, Teemu Palviainen, Jukka Koskela, Pietari Ripatti, Joel T. Rämö, Sanni Ruotsalainen, FinnGen, GSCAN Consortium, Aarno Palotie, Pamela A.F. Madden, Richard J. Rose, Jaakko Kaprio, Veikko Salomaa, Pia Mäkelä, Aki S. Havulinna, Samuli Ripatti Transl Psychiatry 2020 Jan 21;10(1):23. http://dx.doi.org/10.1038/s41398-019-0676-2

Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan

Saori Sakaue, Masahiro Kanai, Juha Karjalainen, Masato Akiyama, Mitja Kurki, Nana Matoba, Atsushi Takahashi, Makoto Hirata, Michiaki Kubo, Koichi Matsuda, Yoshinori Murakami, FinnGen, Mark J. Daly, Yoichiro Kamatani, Yukinori Okada Nat Med 2020 March 23. https://doi.org/10.1038/s41591-020-0785-8

Polygenic and clinical risk scores and their impact on age at onset of cardiometabolic diseases and common cancers

Nina J. Mars, Jukka T. Koskela, Pietari Ripatti, Tuomo T.J. Kiiskinen, Aki S. Havulinna, Joni V. Lindbohm, Ari Ahola-Olli, Mitja Kurki, Juha Karjalainen, Priit Palta, FinnGen, Benjamin M Neale, Mark Daly, Veikko Salomaa, Aarno Palotie, Elisabeth Widén, Samuli Ripatti Nat Med 2020 April 7: https://www.nature.com/articles/s41591-020-0800-0

Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma

Yosuke Tanigawa, Michael Wainberg, Juha Karjalainen, Tuomo Kiiskinen, Guhan Venkataraman, Susanna Lemmelä, Joni A. Turunen, Robert Graham, Aki S. Havulinna, Markus Perola, Aarno Palotie, FinnGen, Mark J. Daly, Manuel A. Rivas Plos Genetics 2020, May 5: https://doi.org/10.1371/journal.pgen.1008682

The role of polygenic risk and susceptibility genes in breast cancer over the course of life

Nina Mars, Elisabeth Widen, Sini Kerminen, Tuomo Meretoja, Matti Pirinen, Priit Palta, FinnGen, Aarno Palotie, Jaakko Kaprio, Heikki Joensuu, Mark Daly, Samuli Ripatti doi: https://doi.org/10.1101/2020.04.17.20069229

ANGPTL8 protein-truncating variant and the risk of coronary disease, type 2 diabetes and adverse effects

Pyry Helkkula, Tuomo Kiiskinen, Aki S. Havulinna, Juha Karjalainen, Seppo Koskinen, Veikko Salomaa, FinnGen, Mark J. Daly, Aarno Palotie, Ida Surakka, Samuli Ripatti https://www.medrxiv.org/content/10.1101/2020.06.09.20125278v1

Genetics of 38 blood and urine biomarkers in the UK Biobank

Nasa Sinnott-Armstrong, Yosuke Tanigawa, David Amar, Nina J. Mars, Matthew Aguirre, Guhan Ram Venkataraman, Michael Wainberg, Hanna M. Ollila, James P. Pirruccello, Junyang Qian, Anna Shcherbina, FinnGen, Fatima Rodriguez, Themistocles L. Assimes, Vineeta Agarwala, Robert Tibshirani, Trevor Hastie, Samuli Ripatti, Jonathan K. Pritchard, Mark J. Daly, Manuel A. Rivas https://www.biorxiv.org/content/10.1101/660506v1

Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks

Lars G. Fritsche, Snehal Patil, Lauren J. Beesley, Peter VandeHaar, Maxwell Salvatore, Robert B. Peng, Daniel Taliun, Xiang Zhou, Bhramar Mukherjee https://www.biorxiv.org/content/10.1101/2020.01.22.915751v2

A large cross-ancestry meta-analysis of genome-wide association studies identifies 69 novel risk loci for primary open-angle glaucoma and includes a genetic link with Alzheimer’s disease

Puya Gharahkhani, Eric Jorgenson, Pirro Hysi, Anthony P. Khawaja, Sarah Pendergrass, Xikun Han, Jue Sheng Ong, Alex W. Hewitt, Ayellet Segre, Robert P. Igo Jr, Helene Choquet, Ayub Qassim, Navya S Josyula, Jessica N. Cooke Bailey, Pieter Bonnemaijer, Adriana Iglesias, Owen M. Siggs, Terri Young, Veronique Vitart, Alberta A.H.J. Thiadens, Juha Karjalainen, Steffen Uebe, Ronald B. Melles, K. Saidas Nair, Robert Luben, Mark Simcoe, Nishani Amersinghe, Angela J. Cree, Rene Hohn, Alicia Poplawski, Li Jia Chen (CUHK), Ching-Yu Cheng, Eranga Nishanthie Vithana, NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, 23andMe Research Team, Gen Tamiya, Yukihiro Shiga, Masayuki Yamamoto, Toru Nakazawa, John Rouhana, Hannah Currant, Ewan Birney, Xin Wang, Adam Auton, Adeyinka Ashaye, Olusola Olawoye, Susan E. Williams, Stephen Akafo, Michele Ramsay, Kazuki Hashimoto, Yoichito Kamatani, Masato Akiama, Yukihide Momozawa, Paul J. Foster, Peng T. Khaw, James E. Morgan, Nicholas G. Strouthidis, Peter Kraft, Jae Hee Kang, Calvin Chi Pui Pang (CUHK), Francesca Pasutto, Paul Mitchell, Andrew J. Lotery, Aarno Palotie, Cornelia van Duijn, Jonathan Haines, Chris Hammond, Louis R. Pasquale, Caroline C.W. Klaver, Michael Hauser, Chiea Chuen Khor, David A. Mackey, Michiaki Kubo, Tin Aung, Jamie Craig, Stuart MacGregor, Janey Wiggs https://www.biorxiv.org/content/10.1101/2020.01.30.927822v1

Genetic analyses identify widespread sex-differential participation bias

Nicola Pirastu, Mattia Cordioli, Priyanka Nandakumar, Gianmarco Mignogna, Abdel Abdellaoui, Benjamin Hollis, Masahiro Kanai, Veera M. Rajagopal, Pietro Della Briotta Parolo, Nikolas Baya, Caitlin Carey, Juha Karjalainen, Thomas D. Als, Matthijs D. Van der Zee, Felix R. Day, Ken K. Ong, Finngen Study, Me Research Team, Consortium iPSYCH, Takayuki Morisaki, Eco de Geus, Rino Bellocco, Yukinori Okada, Anders D. Børglum, Peter Joshi, Adam Auton, David Hinds, Benjamin M. Neale, Raymond K. Walters, Michel G. Nivard, John R.B. Perry, Andrea Ganna https://www.biorxiv.org/content/10.1101/2020.03.22.001453v1

A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

Connor A Emdin, Mary E Haas, Amit V Khera, Krishna Aragam, Mark Chaffin, Derek Klarin, George Hindy, Lan Jiang, Wei-Qi Wei, Qiping Feng, Juha Karjalainen, Aki Havulinna, Tuomo Kiiskinen, Alexander Bick, Diego Ardissino, James G Wilson, Heribert Schunkert, Ruth McPherson, Hugh Watkins, Roberto Elosua, Matthew J Bown, Nilesh J Samani, Usman Baber, Jeanette Erdmann, Namrata Gupta, John Danesh, Danish Saleheen, Kyong-Mi Chang, Marijana Vujkovic, Ben Voight, Scott Damrauer, Julie Lynch, David Kaplan, Marina Serper, Philip Tsao, Million Veteran Program; Josep Mercader, Craig Hanis, Mark Daly, Joshua Denny, Stacey Gabriel, Sekar Kathiresan PLoS Genet. 2020 Apr 13;16(4):e1008629. doi: 10.1371/journal.pgen.1008629. eCollection 2020 Apr.

Polygenic Hyperlipidemias and Coronary Artery Disease Risk

Pietari Ripatti, Joel T Rämö, Nina J Mars, Yu Fu, Jake Lin, Sanni Söderlund, Christian Benner, Ida Surakka, Tuomo Kiiskinen, Aki S Havulinna, Priit Palta, Nelson B Freimer, Elisabeth Widén , Veikko Salomaa, Taru Tukiainen, Matti Pirinen, Aarno Palotie, Marja-Riitta Taskinen, Samuli Ripatti, FinnGen Circ Genom Precis Med. 2020 Apr;13(2):e002725. doi: 10.1161/CIRCGEN.119.002725. Epub 2020 Mar 10.

The impact of non-additive genetic associations on age-related complex diseases

Marta Guindo-Martínez, Ramon Amela, Silvia Bonàs-Guarch, Montserrat Puiggròs, Cecilia Salvoro, Irene Miguel-Escalada, Caitlin E Carey, Joanne B. Cole, Sina Rüeger, Elizabeth Atkinson, Aaron Leong, Friman Sanchez, Cristian Ramon-Cortes, Jorge Ejarque, Duncan S Palmer, Mitja Kurki, FinnGen Consortium, Krishna Aragam, Jose C Florez, Rosa M. Badia, Josep M. Mercader, David Torrents https://www.biorxiv.org/content/10.1101/2020.05.12.084608v1

GWAS of Depression Phenotypes in the Million Veteran Program and Meta-analysis in More than 1.2 Million Participants Yields 178 Independent Risk Loci

Daniel F Levey, Murray B Stein, Frank R Wendt, Gita A Pathak, Hang Zhou, Mihaela Aslan, Rachel Quaden, Kelly M Harrington, Gerard Sanacora, Andrew M McIntosh, John Concato, Renato Polimanti, Joel Gelernter, on behalf of the Million Veteran Program https://www.medrxiv.org/content/10.1101/2020.05.18.20100685v2

Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus

Iain Mathieson, Felix R. Day, Nicola Barban, Felix C. Tropf, David M. Brazel, eQTLGen Consortium, BIOS Consortium, Ahmad Vaez, Natalie van Zuydam, Bárbara D. Bitarello, Harold Snieder, Marcel den Hoed, Ken K. Ong, Melinda C. Mills, John R.B. Perry, on behalf of the Human Reproductive Behaviour Consortium https://www.biorxiv.org/content/10.1101/2020.05.19.104455v1

High heritability of ascending aortic diameter and multi-ethnic prediction of thoracic aortic disease

Catherine Tcheandjieu, Ke Xiao, Heliodoro Tejeda, Julie Lynch, Sanni Ruotsalainen, Tiffany Bellomo, Madhuri Palnati, Renae Judy, Rachel Kember, Derek Klarin, Rachel Kember, Shefali Verma, Regeneron Genetics Center, VA Million Veterans Program, FinnGen Project, Aarno Palotie, Mark Daly, Marylyn Ritchie, Daniel Rader, Manuel A Rivas, Themosticles Assimes, Philip Tsao, Scott Damrauer, James Priest https://www.medrxiv.org/content/10.1101/2020.05.29.20102335v1

Quantifying the contribution of Neanderthal introgression to the heritability of complex traits

Evonne McArthur, David Rinker, John A. Capra
https://www.biorxiv.org/content/10.1101/2020.06.08.140087v1

Genetic susceptibility to pneumonia: A GWAS meta-analysis between UK Biobank and FinnGen

Adrian Campos, Pik Fang Kho, Karla Ximena Vazquez-Prada, Luis M Garcia-Marin, Nicholas G Martin, Gabriel Cuellar-Partida, Miguel E. Renteria https://www.medrxiv.org/content/10.1101/2020.06.22.20103556v1

Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis

Ryan S. Dhindsa, Johan Mattsson, Abhishek Nag, Quanli Wang, Louise V. Wain, Richard Allen, Eleanor M. Wigmore, Kristina Ibanez, Dimitrios Vitsios, Sri VV. Deevi, Sebastian Wasilewski, Maria Karlsson, Glenda Lassi, Henric Olsson, Daniel Muthas, Alex Mackay, Lynne Murray, Simon Young, Carolina Haefliger, FinnGen Consortium, Toby M. Maher, Maria G. Belvisi, Gisli Jenkins, Philip Molyneaux, Adam Platt, Slavé Petrovski https://www.biorxiv.org/content/10.1101/2020.06.29.178079v1

A Trans-Omic Mendelian Randomization Study of Parental Lifespan Uncovers Novel Aging Biology and Drug Candidates for Human Healthspan Extension

Nicolas Perrot, William Pelletier, Jerome Bourgeault, Christian Couture, Zhonglin Li, Patricia Mitchell, Nooshin Ghodsian, Yohan Bosse, Sebastien Theriault, Patrick Mathieu, Benoit J Arsenault https://www.medrxiv.org/content/10.1101/2020.07.06.20147520v1

The genetic architecture of human infectious diseases and pathogen-induced cellular phenotypes

Andrew T Hale, Dan Zhou, Lisa Bastarache, Liuyang Wang, Sandra S Zinkel, Steven J Schiff, Dennis C Ko, Eric R. Gamazon
https://www.medrxiv.org/content/10.1101/2020.07.19.20157404v2

A Platelet Function Modulator of Thrombin Activation Is Causally Linked to Cardiovascular Disease and Affects PAR4 Receptor Signaling

Benjamin A T Rodriguez, Arunoday Bhan, Andrew Beswick, Peter C Elwood, Teemu J Niiranen, Veikko Salomaa, FinnGen Study; David-Alexandre Trégouët, Pierre-Emmanuel Morange, Mete Civelek, Yoav Ben-Shlomo, Thorsten Schlaeger, Ming-Huei Chen, Andrew D Johnson Am J Hum Genet. 2020 Jul 4;S0002-9297(20)30196-8. doi: 10.1016/j.ajhg.2020.06.008. Online ahead of print.

Genome-wide meta-analysis identifies novel loci associated with age-related macular degeneration

Xikun Han, Puya Gharahkhani, Paul Mitchell, Gerald Liew, Alex W Hewitt, Stuart MacGregor J Hum Genet. 2020 Aug;65(8):657-665. doi: 10.1038/s10038-020-0750-x. Epub 2020 Apr 10.

Genetic analysis of obstructive sleep apnoea discovers a strong association with cardiometabolic health

Satu Strausz, Sanni E Ruotsalainen, Hanna M Ollila, Juha Karjalainen, Mary Reeve, Mitja Kurki, Nina Mars, Aki S Havulinna, Tuomo Kiiskinen, Dina Mansour Aly, Emma Ahlqvist, Maris Teder-Laving, Priit Palta, Leif Groop, Reedik Magi, Antti Makitie, Veikko Salomaa, Adel Bachour, Tiinamaija Tuomi, Aarno Palotie, Tuula Palotie, Samuli Ripatti
https://www.biorxiv.org/content/10.1101/2020.08.04.235994v1

Assessing the efficacy and safety of angiotensinogen inhibition using human genetics

Jonas Bovijn, Jenny C Censin, Cecilia M Lindgren, Michael V Holmes
doi:https://doi.org/10.1101/2020.08.13.20174094

Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility

Irene V van Blokland, Pauline Lanting, Anil PS Ori, Judith M Vonk, Robert CA Warmerdam, Johanna C Herkert, Floranne Boulogne, Annique Claringbould, Esteban A Lopera-Maya, Meike Bartels, Jouke-Jan Hottenga, Andrea Ganna, Juha Karjalainen, Lifelines COVID-19 cohort study, The COVID-19 Host Genetics Initiative, Caroline Hayward, Chloe Fawns-Ritchie, Archie Campbell, David Porteous, Elizabeth T Cirulli, Kelly M Schiabor Barrett, Stephen Riffle, Alexandre Bolze, Simon White, Francisco Tanudjaja, Xueqing Wang, Jimmy M Ramirez III, Yan Wei Lim, James T Lu, Nicole L Washington, Eco JC de Geus, Patrick Deelen, H Marike Boezen, Lude H Franke
doi: https://doi.org/10.1101/2020.08.21.20177246

Sleep duration and risk of overall and 22 site-specific cancers: A Mendelian randomization study.

Titova OE, Michaëlsson K, Vithayathil M, Mason AM, Kar S, Burgess S, Larsson SC.
Int J Cancer. 2020 Sep 7. doi: 10.1002/ijc.33286. Epub ahead of print.

An atlas on risk factors for type 2 diabetes: a wide-angled Mendelian randomisation study

Shuai Yuan, Susanna C Larsson
Diabetologia 2020 Sep 8. doi: 10.1007/s00125-020-05253-x. Online ahead of print.

Trans-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

Anubha Mahajan, Cassandra N Spracklen, Weihua Zhang etc.
https://www.medrxiv.org/content/10.1101/2020.09.22.20198937v1

Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells

Nature (2020)
Erik L Bao, Satish Nandakumar, Xiaotian Liao, Alexander Bick, Juha Karjalainen, Marcin Tabaka, Olga I. Gan, Aki Havulinna, Tuomo Kiiskinen, Caleb A. Lareau, Aitzkoa L. de Lapuente Portilla, Bo Li, Connor Emdin, Veryan Codd, Christopher P. Nelson, Christopher J. Walker, Claire Churchhouse, Albert de la Chapelle, Daryl E. Klein, Björn Nilsson, Peter W.F. Wilson, Kelly Cho, Saiju Pyarajan, J. Michael Gaziano, Nilesh J. Samani, FinnGen, 23andMe Research Team, Aviv Regev, Aarno Palotie, Benjamin M. Neale, John E. Dick, Pradeep Natarajan, Christopher J. O’Donnell, Mark J. Daly, Michael Milyavsky, Sekar Kathiresan, Vijay G. Sankaran
https://doi.org/10.1038/s41586-020-2786-7

Genome-Wide Polygenic Risk Score Identifies Individuals at Elevated Parkinson’s Disease Risk

Yingnan Han, Erin Teeple, Srinivas Shankara, Mahdiar Sadeghi, Cheng Zhu, Dongyu Liu, FinnGen, Clarence Wang, Francesca Frau, Katherine W. Klinger, Stephen L. Madden, Deepak Rajpal, S. Pablo Sardi, Dinesh Kumar
doi: https://doi.org/10.1101/2020.10.16.20212944

Genome-wide association study identifies five risk loci for pernicious anemia and implicates the role of HLA-DR15 haplotype

Triin Laisk, Maarja Lepamets, Reedik Mägi
doi:https://doi.org/10.1101/2020.10.13.20211912

Validation of Psoriasis Diagnoses Recorded in Finnish Biobanks

Haverinen S, Vihervaara A, Löyttyniemi E, Peltonen S, Koulu L, Tasanen K, Huilaja L; FinnGen investigators. Acta Derm Venereol. 2020 Oct 21;100(17):adv00297. doi: 10.2340/00015555-3656

A global atlas of genetic associations of 220 deep phenotypes

Saori Sakaue, Masahiro Kanai, Yosuke Tanigawa, Juha Karjalainen, Mitja Kurki, Seizo Koshiba, Akira Narita, Takahiro Konuma, Kenichi Yamamoto, Masato Akiyama,
Kazuyoshi Ishigaki, Akari Suzuki, Ken Suzuki, Wataru Obara, Ken Yamaji, Kazuhisa Takahashi, Satoshi Asai, Yasuo Takahashi, Takao Suzuki, Nobuaki Shinozaki,
Hiroki Yamaguchi, Shiro Minami, Shigeo Murayama, Kozo Yoshimori, Satoshi Nagayama, Daisuke Obata, Masahiko Higashiyama, Akihide Masumoto, Yukihiro Koretsune,
Finn Gen, Kaoru Ito, Chikashi Terao, Toshimasa Yamauchi, Issei Komuro, Takashi Kadowaki, Gen Tamiya, Masayuki Yamamoto, Yusuke Nakamura, Michiaki Kubo,
Yoshinori Murakami, Kazuhiko Yamamoto, Yoichiro Kamatani, Aarno Palotie, Manuel A. Rivas, Mark J. Daly, Koichi Matsuda, Yukinori Okada medRxiv 2020.10.23.20213652;
doi:https://doi.org/10.1101/2020.10.23.20213652

Phenome-wide HLA association study of Finnish biobank participants reveals infection-autoimmune disease links and modifier effects between HLA genes and alleles

Jarmo Ritari, Satu Koskela, Kati Hyvärinen, FinnGen, Jukka Partanen
doi:https://doi.org/10.1101/2020.10.26.20219899

An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

Sanni E. Ruotsalainen, VJuulia J. Partanen, Anna Cichonska, Jake Lin, Christian Benner, Ida Surakka, FinnGen, Mary Pat Reeve, Priit Palta, Marko Salmi, Sirpa Jalkanen, Ari Ahola-Olli, Aarno Palotie, Veikko Salomaa, Mark J. Daly, Matti Pirinen, Samuli Ripatti, Jukka Koskela Eur J Hum Genet. 2020 Oct 27. Epub ahead of print. doi: 10.1038/s41431-020-00730-8.

An efficient and accurate frailty model approach for genome-wide survival association analysis controlling for population structure and relatedness in large-scale biobanks

Rounak Dey, Wei Zhou, Tuomo Kiiskinen, Aki Havulinna, Amanda Elliott, Juha Karjalainen, Mitja Kurki, Ashley Qin, FinnGen, Seunggeun Lee, Aarno Palotie, Benjamin Neale, Mark Daly, Xihong Lin bioRxiv 2020.10.31.358234;
doi:https://doi.org/10.1101/2020.10.31.358234

Multiple formin proteins participate in glioblastoma migration

Vanina D. Heuser, Aida Kiviniemi, Laura Lehtinen, Sune Munthe, Bjarne Winther Kristensen, Jussi P. Posti, Jussi O. T. Sipilä, Ville Vuorinen, Olli Carpén and Maria Gardberg BMC Cancer 2020 20:710
doi:https://doi.org/10.1186/s12885-020-07211-7

CCR5-del32 is not deleterious in the homozygous state in humans

Daniel Gudbjartsson, Patric Sulem, Kári Stefansson, Nina Mars, Juha Karjalainen, Samuli Ripatti, Aarno Palotie, Mark Daly
https://www.biorxiv.org/content/10.1101/788117v1

The Burden Of Chronic Obstructive Pulmonary Disease (COPD) In Finland: Impact Of Disease Severity And Eosinophil Count On Healthcare Resource Utilization.

Viinanen A, Lassenius MI, Toppila I, Karlsson A, Veijalainen L, Idänpään-Heikkilä JJ, Laitinen T.
Int J Chron Obstruct Pulmon Dis. 2019 Oct 25;14:2409-2421. doi: 10.2147/COPD.S222581. eCollection 2019.

Retrospective Evaluation of Lung Adenocarcinoma Patients Progressing on 1st Line Chemotherapy.

Vilhonen H, Kurki S, Laitinen T, Hirsjärvi S.
Medicina (Kaunas). 2019 Nov 16;55(11). pii: E743. doi: 10.3390/medicina55110743.

Vulvar malignant pleomorphic adenoma in a patient with lichen sclerosus.

Hieta NK, Kurki SH, Rintala MA, Söderlund JM, Hietanen SH, Katri OJ.
JAAD Case Rep. 2019 Oct 31;5(11):994-996. doi: 10.1016/j.jdcr.2019.09.013. eCollection 2019 Nov. No abstract available.

CA 19-9 doubling time in pancreatic cancer as a predictor of venous thromboembolism: a hospital database study.

Peippo MH, Kurki S, Seppänen H, Lassila R, Carpén O.
Acta Oncol. 2019 Oct 25:1-5. doi: 10.1080/0284186X.2019.1679881. [Epub ahead of print] No abstract available.

ANO7 rs77559646 Is Associated With First-line Docetaxel Treatment Response in Metastatic Castration-resistant Prostate Cancer.

Kaikkonen E, Ettala O, Nikulainen I, Taimen P, Lehtinen I, Boström PJ, Kellokumpu-Lehtinen PL, Schleutker J.
Anticancer Res. 2019 Oct;39(10):5353-5359. doi: 10.21873/anticanres.13728.

Tumor-infiltrating lymphocytes and CD8+ T cells predict survival of triple-negative breast cancer.

Vihervuori H, Autere TA, Repo H, Kurki S, Kallio L, Lintunen MM, Talvinen K, Kronqvist P.
J Cancer Res Clin Oncol. 2019 Dec;145(12):3105-3114. doi: 10.1007/s00432-019-03036-5. Epub 2019 Sep 27.

CDX2 Loss With Microsatellite Stable Phenotype Predicts Poor Clinical Outcome in Stage II Colorectal Carcinoma.

Slik K, Turkki R, Carpén O, Kurki S, Korkeila E, Sundström J, Pellinen T.
Am J Surg Pathol. 2019 Nov;43(11):1473-1482. doi: 10.1097/PAS.0000000000001356.

Risk of cancer among Finnish multiple sclerosis patients.

Hongell K, Kurki S, Sumelahti ML, Soilu-Hänninen M.
Mult Scler Relat Disord. 2019 Oct;35:221-227. doi: 10.1016/j.msard.2019.08.005. Epub 2019 Aug 5.

The burden of adult asthma in Finland: impact of disease severity and eosinophil count on health care resource utilization.

Viinanen A, Lassenius MI, Toppila I, Karlsson A, Veijalainen L, Idänpään-Heikkilä JJ, Laitinen T.
J Asthma. 2019 Jul 3:1-11. doi: 10.1080/02770903.2019.1633664.

Gender-specific change in leptin concentrations during long-term CPAP therapy.

Aro M, Anttalainen U, Kurki S, Irjala K, Polo O, Saaresranta T.
Sleep Breath. 2019 May 4. doi: 10.1007/s11325-019-01846-y.

Decorin Expression in Human Vulva Carcinoma: Oncosuppressive Effect of Decorin cDNA Transduction on Carcinoma Cells.

Nyman MC, Jokilammi AB, Boström PC, Kurki SH, Sainio AO, Grenman SE, Orte KJ, Hietanen SH, Elenius K, Järveläinen HT.
J Histochem Cytochem. 2019 Jul;67(7):511-522. doi: 10.1369/0022155419845373. Epub 2019 Apr 22.

Heart failure in Finland: clinical characteristics, mortality, and healthcare resource use.

Huusko J, Kurki S, Toppila I, Purmonen T, Lassenius M, Gullberg E, Wirta SB, Ukkonen H.
ESC Heart Fail. 2019 Aug;6(4):603-612. doi: 10.1002/ehf2.12443. Epub 2019 May 3.

Somatostatin receptor expression is associated with metastasis and patient outcome in pulmonary carcinoid tumors.

Vesterinen Tiina, Leijon Helena, Mustonen Harri, Remes Satu, Knuuttila Aija, Salmenkivi Kaisa,
Vainio Paula, Arola Johanna, Haglund Caj The Journal of Clinical Endocrinology & Metabolism; 2019 DOI: 10.1210/jc.2018-01931

ANO7 rs77559646 Is Associated With First-line Docetaxel Treatment Response in Metastatic Castration-resistant Prostate Cancer

Elina Kaikkonen, MSca, Otto Ettala MD, PhDb, Ilkka Nikulainen MDb,c, Pekka Taimen, MD, PhDd, Ilari Lehtinen, BSce, Peter J. Boström MD,
PhDb, Pirkko-Liisa Kellokumpu-Lehtinen, MD, PhDf,g, , Johanna Schleutker, PhDa, h* doi: 10.21873/anticanres.13728 Anticancer Research October 2019 vol. 39 no. 10 5353-5359

Personalized Drug Sensitivity Screening for Bladder Cancer Using Conditionally Reprogrammed Patient-derived Cells

Kettunen K1, Boström PJ2, Lamminen T3, Heinosalo T4, West G1, Saarinen I1, Kaipio K3, Rantala J5,
Albanese C6, Poutanen M4, Taimen P7. Eur Urol. 2019 Jun 27. pii: S0302-2838(19)30501-9. doi: 10.1016/j.eururo.2019.06.016.[Epub ahead of print]

PD-1 and PD-L1 expression in pulmonary carcinoid tumors and their association to tumor spread

Vesterinen T, Kuopio T, Ahtiainen M, Knuuttila A, Mustonen H, Salmenkivi K, Arola J, Haglund C.
Endocr Connect. 2019 Jul 1. pii: EC-19-0308. doi: 10.1530/EC-19-0308. [Epub ahead of print]

Gadolinium retention in gliomas and adjacent normal brain tissue: association with tumor contrast enhancement and linear/macrocyclic agents

Kiviniemi A1, Gardberg M2, Ek P3, Frantzén J4, Bobacka J3, Minn H5.
Neuroradiology. 2019 May;61(5):535-544. doi: 10.1007/s00234-019-02172-6. Epub 2019 Feb 2.

Performance of Finnish biobanks in nationwide pulmonary carcinoid tumour research

Vesterinen, T., Salmenkivi, K., Mustonen, H. et al.
Virchows Arch (2019). https://doi.org/10.1007/s00428-019-02625-6

The validity of heart failure diagnoses in the Finnish Hospital Discharge Register.

Vuori MA, Laukkanen JA, Pietilä A, Havulinna AS, Kähönen M, Salomaa V, Niiranen TJ; FinnGen investigators.
Scand J Public Health. 2019 May 9:1403494819847051. doi: 10.1177/1403494819847051.

A relational database to identify differentially expressed genes in the endometrium and endometriosis lesions

Michael Gabriel, Vidal Fey1, Taija Heinosalo, Prem Adhikari, Kalle Rytkönen, Tuomo Komulainen, Kaisa Huhtinen, Teemu Daniel Laajala, Harri Siitari, Arho Virkki,
Pia Suvitie, Harry Kujari, Tero Aittokallio, Antti Perheentupa, Matti Poutanen
Submitted.

Exome sequencing of Finnish isolates enhances rare-variant association power

Adam E. Locke, Karyn Meltz Steinberg, Charleston W. K. Chiang, Susan K. Service, Aki S. Havulinna, Laurel Stell, Matti Pirinen,
Haley J. Abel, Colby C. Chiang, Robert S. Fulton, Anne U. Jackson, Chul Joo Kang, Krishna L. Kanchi, Daniel C. Koboldt, David E. Larson, Joanne Nelson, Thomas J. Nicholas, Arto Pietilä, Vasily Ramensky, Debashree Ray, Laura J. Scott, Heather M. Stringham, Jagadish Vangipurapu, Ryan Welch, Pranav Yajnik, Xianyong Yin, Johan G. Eriksson, Mika Ala-Korpela, Marjo-Riitta Järvelin, Minna Männikkö, Hannele Laivuori, Susan K. Dutcher, Nathan O. Stitziel, Richard K. Wilson, Ira M. Hall, Chiara Sabatti, Aarno Palotie, Veikko Salomaa, Markku Laakso, Samuli Ripatti, Michael Boehnke, Nelson B. Freimer. Nature, 2019. dot: 10.1038/s41586-019-1457-z

Genetic architecture of human plasma lipidome and its link to cardiovascular disease

Tabassum R, Rämö JT, Ripatti P, Koskela JT, Kurki M, Karjalainen J, Palta P, Hassan S, Nunez-Fontarnau J, Kiiskinen TTJ,
Söderlund S, Matikainen N, Gerl MJ, Surma MA, Klose C, Stitziel NO, Laivuori H, Havulinna AS, Service SK, Salomaa V, Pirinen M; FinnGen Project, Jauhiainen M, Daly MJ, Freimer NB, Palotie A, Taskinen MR, Simons K, Ripatti S. Nat Commun. 2019 Sep 24;10(1):4329. doi: 10.1038/s41467-019-11954-8

Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin amyloidoses

Antonella De Lillo, Flavio De Angelis, Marco Di Girolamo, Marco Luigetti, Sabrina Frusconi, Dario Manfellotto, Maria Fuciarelli, Renato Polimanti Hum Genet 2019 Dec;138(11-12):1331-1340. doi: 10.1007/s00439-019-02078-6. Epub 2019 Oct 29.

Association of Vulvar Melanoma with Lichen Sclerosus.

Hieta N, Kurki S, Rintala M, Söderlund J, Hietanen S, Orte K.
Acta Derm Venereol. 2018 Dec 6. doi: 10.2340/00015555-3103. [Epub ahead of print]

Combined epithelial marker analysis of tumour budding in stage II colorectal cancer.

Slik K, Blom S, Turkki R, Välimäki K, Kurki S, Mustonen H, Haglund C, Carpén O, Kallioniemi O, Korkeila E, Sundström J, Pellinen T.
J Pathol Clin Res. 2018 Oct 25. doi: 10.1002/cjp2.119. [Epub ahead of print]

Early CD8+-recovery independently predicts low probability of disease relapse but also associates with severe GVHD after allogeneic HSCT.

Ranti J, Kurki S, Salmenniemi U, Putkonen M, Salomäki S, Itälä-Remes M.
PLoS One. 2018 Sep 20;13(9):e0204136. doi: 10.1371/journal.pone.0204136. eCollection 2018.

Formin Proteins FHOD1 and INF2 in Triple-Negative Breast Cancer: Association With Basal Markers and Functional Activities.

Heuser VD, Mansuri N, Mogg J4 Kurki S, Repo H, Kronqvist P, Carpén O, Gardberg M.
Breast Cancer (Auckl). 2018 Aug 24;12:1178223418792247. doi: 10.1177/1178223418792247. eCollection 2018.

EGFR gene copy number decreases during anti-EGFR antibody therapy in colorectal cancer.

Birkman EM, Avoranta T, Ålgars A, Korkeila E, Lintunen M, Lahtinen L, Kuopio T, Ristamäki R, Carpén O, Sundström J.
Hum Pathol. 2018 Aug 7. pii: S0046-8177(18)30296-X. doi: 10.1016/j.humpath.2018.07.028. [Epub ahead of print]

Real-world features associated with cancer-related venous thromboembolic events.

Peippo MH, Kurki S, Lassila R, Carpén OM.
ESMO Open. 2018 Jul 23;3(5):e000363. doi: 10.1136/esmoopen-2018-000363. eCollection 2018.

Health care resource utilization and characteristics of patients with eosinophilic asthma in secondary health care in Finland.

Mäkelä MJ, Christensen HN, Karlsson A, Rastogi S, Kettunen K.
Eur Clin Respir J. 2018 Apr 15;5(1):1458560. doi: 10.1080/20018525.2018.1458560. eCollection 2018.

The composition of prostate core matrisome in vivo and in vitro unveiled by mass spectrometric analysis.

Ojalill M, Rappu P, Siljamäki E, Taimen P, Boström P, Heino J.
The Prostate. 2018; 78:583–594.

Proliferation-associated miRNAs-494,-205,-21 and-126 detected by in situ hybridization: expression and prognostic potential in breast carcinoma patients.

Gurvits N, Autere T, Repo H, Nykänen M, Kuopio T, Kronqvist P, Talvinen K.
Journal of Cancer Research and Clinical Oncology. 2018; 144: 657–666.

ANO7 is associated with aggressive prostate cancer.

Kaikkonen E, Rantapero T, Zhang Q, Taimen P, Laitinen V, Kallajoki M, Jambulingam D, Ettala O, Knaapila J, Boström PJ,
Wahlström G, Sipeky C, Pursiheimo JP, Tammela T, Kellokumpu-Lehtinen PL; PRACTICAL Consortium, Fey V, Maehle L, Wiklund F, Wei GH, Schleutker J. Int J Cancer. 2018 Nov 15;143(10):2479-2487. doi: 10.1002/ijc.31746. Epub 2018 Sep 22

Somatostatin receptor 2A in gliomas: Association with oligodendrogliomas and favourable outcome.

Kiviniemi A, Gardberg M, Kivinen K, Posti JP, Vuorinen V, Sipilä J, Rahi M,
Sankinen M, Minn H. Oncotarget. 2017 Jul 25;8(30):49123-49132. doi: 10.18632/oncotarget.17097.

Amine oxidase activity regulates the development of pulmonary fibrosis.

Marttila-Ichihara F, Elima K, Auvinen K, Veres TZ, Rantakari P, Weston C,
Miyasaka M, Adams D, Jalkanen S, Salmi M. FASEB J. 2017 Jun;31(6):2477-2491. doi: 10.1096/fj.201600935R. Epub 2017 Mar 1.

Trends in presentation, treatment and survival of 1777 patients with colorectal cancer over a decade: a Biobank study.

Heervä E, Carpelan A, Kurki S, Sundström J, Huhtinen H, Rantala A, Ålgars A, Ristamäki R, Carpén O, Minn H.
Acta Oncol. 2017 Dec 23:1-8. doi: 10.1080/0284186X.2017.1420230. [Epub ahead of print]

Common comorbidities and survival in MS: Risk for stroke, type 1 diabetes and infections.

Murtonen A, Kurki S, Hänninen K, Soilu-Hänninen M, Sumelahti ML.
Mult Scler Relat Disord. 2017 Nov 13;19:109-114. doi: 10.1016/j.msard.2017.10.019. [Epub ahead of print]

PTTG1-interacting protein (PTTG1IP/PBF) predicts breast cancer survival.

Repo H, Gurvits N, Löyttyniemi E, Nykänen M, Lintunen M, Karra H, Kurki S, Kuopio T, Talvinen K, Söderström M, Kronqvist P.
BMC Cancer. 2017 Oct 27;17(1):705. doi: 10.1186/s12885-017-3694-6.

Ezrin expression combined with MSI status in prognostication of stage II colorectal cancer.

Slik K, Kurki S, Korpela T, Carpén O, Korkeila E, Sundström J.
PLoS One. 2017 Sep 27;12(9):e0185436. doi: 10.1371/journal.pone.0185436. eCollection 2017.

Gastric cancer: immunohistochemical classification of molecular subtypes and their association with clinicopathological characteristics.

Birkman EM, Mansuri N, Kurki S, Ålgars A, Lintunen M, Ristamäki R, Sundström J, Carpén O.
Virchows Arch. 2017 Oct 19. doi: 10.1007/s00428-017-2240-x. [Epub ahead of print]

Sleep During Menopausal Transition: A 6-Year Follow-Up.

Lampio L, Polo-Kantola P, Himanen SL, Kurki S, Huupponen E, Engblom J, Heinonen OJ, Polo O, Saaresranta T.
Sleep. 2017 Jul 1;40(7). doi: 10.1093/sleep/zsx090.

Breast cancer in neurofibromatosis type 1: overrepresentation of unfavourable prognostic factors.

Uusitalo E, Kallionpää RA, Kurki S, Rantanen M, Pitkäniemi J, Kronqvist P, Härkönen P, Huovinen R, Carpen O, Pöyhönen M, Peltonen S, Peltonen J.
Br J Cancer. 2017 Jan 17;116(2):211-217. doi: 10.1038/bjc.2016.403. Epub 2016 Dec 8.

EGFR gene copy number predicts response to anti-EGFR treatment in RAS wild type and RAS/BRAF/PIK3CA wild type metastatic colorectal cancer.

Ålgars A, Sundström J, Lintunen M, Jokilehto T, Kytölä S, Kaare M, Vainionpää R, Orpana A, Österlund P, Ristimäki A, Carpen O, Ristamäki R.
Int J Cancer. 2017 Feb 15;140(4):922-929. doi: 10.1002/ijc.30507. Epub 2016 Nov 23.

Risk of osteoporotic fractures in multiple sclerosis patients in southwest Finland.

Åivo J, Kurki S, Sumelahti ML, Hänninen K, Ruutiainen J, Soilu-Hänninen M.
Acta Neurol Scand. 2017 May;135(5):516-521. doi: 10.1111/ane.12623. Epub 2016 Jun 22.

FMNL2/FMNL3 formins are linked with oncogenic pathways and predict melanoma outcome.

Gardberg M, Heuser VD, Koskivuo I, Koivisto M, Carpén O.
J Pathol Clin Res. 2016 Jan 21;2(1):41-52. doi: 10.1002/cjp2.34. eCollection 2016 Jan.

EGFR gene amplification is relatively common and associates with outcome in intestinal adenocarcinoma of the stomach, gastro-oesophageal junction and distal oesophagus.

Birkman EM, Ålgars A, Lintunen M, Ristamäki R, Sundström J, Carpén O.
BMC Cancer. 2016 Jul 7;16:406. doi: 10.1186/s12885-016-2456-1.

L-type calcium channels regulate filopodia stability and cancer cell invasion downstream of integrin signalling.

Jacquemet G, Baghirov H, Georgiadou M, Sihto H, Peuhu E, Cettour-Janet P, He T, Perälä M, Kronqvist P,
Joensuu H, Ivaska J. Nat Commun. 2016 Dec 2;7:13297. doi: 10.1038/ncomms13297.

Novel Mad2-targeting miR-493-3p controls mitotic fidelity and cancer cells' sensitivity to paclitaxel.

Tambe M, Pruikkonen S, Mäki-Jouppila J, Chen P, Elgaaen BV, Straume AH, Huhtinen K, Cárpen O, Lønning PE, Davidson B, Hautaniemi S, Kallio MJ.
Oncotarget. 2016 Mar 15;7(11):12267-85. doi: 10.18632/oncotarget.7860.

High Adherence to CPAP Treatment Does Not Prevent the Continuation of Weight Gain among Severely Obese OSAS Patients.

Myllylä M, Kurki S, Anttalainen U, Saaresranta T, Laitinen T.
J Clin Sleep Med. 2016 Apr 15;12(4):519-28. doi: 10.5664/jcsm.5680.

Decorin in Human Colon Cancer: Localization In Vivo and Effect on Cancer Cell Behavior In Vitro

Marie C. Nyman, Annele O. Sainio, Mirka M. Pennanen, Riikka J. Lund, Sanna Vuorikoski,
Jari T. T. Sundström, and Hannu T. Järveläinen Journal of Histochemistry & Cytochemistry 2015, Vol. 63(9) 710–720

Cost-Effectiveness_of_Ruxolitinib_for_The_Treatment_of_Myelofibrosis_In_Finland_Economic_Evaluation_Based_on_Finnish_Auria_Biobank_Data_on_Health_Care_Resource_Utilization" target="_blank">Cost-Effectiveness of Ruxolitinib for The Treatment of Myelofibrosis In Finland. Economic Evaluation Based on Finnish Auria Biobank Data on Health Care Resource Utilization.

Hahl J, Kurki S, Miettinen T, Snicker K.
Value Health. 2015 Nov;18(7):A669. doi: 10.1016/j.jval.2015.09.2446. Epub 2015 Oct 20.

Cost-Effectiveness of Pasireotide Long-Acting in a Treatment of Acromegaly in Finland Economic Evaluation Based on Finnish Auria Biobank Data on Health Care Resource Utilization" target="_blank">Cost-Effectiveness of Pasireotide Long-Acting in a Treatment of Acromegaly in Finland. Economic Evaluation Based on Finnish Auria Biobank Data on Health Care Resource Utilization.

Hahl J, Kurki S, Miettinen T, Snicker K.
Value Health. 2015 Nov;18(7):A609. doi: 10.1016/j.jval.2015.09.2109. Epub 2015 Oct 20.

18F-FDG-PET/CT can identify histopathological non-responders to platinum-based neoadjuvant chemotherapy in advanced epithelial ovarian cancer.

Vallius T, Peter A, Auranen A, Carpén O, Kemppainen J, Matomäki J, Oksa S, Roering P, Seppänen M, Grénman S, Hynninen J.
Gynecol Oncol. 2016 Jan;140(1):29-35. doi: 10.1016/j.ygyno.2015.10.018. Epub 2015 Oct 26.