+

WO2003107008A3 - POLYMORPHISME DIAGNOSTIQUE DE LA 11ss-HYDROXYSTÉROÏDE DÉSHYDROGÉNASE UTILE POUR IDENTIFIER LE RISQUE DE DÉVELOPPEMENT DE LA MALADIE D'ALZHEIMER - Google Patents

POLYMORPHISME DIAGNOSTIQUE DE LA 11ss-HYDROXYSTÉROÏDE DÉSHYDROGÉNASE UTILE POUR IDENTIFIER LE RISQUE DE DÉVELOPPEMENT DE LA MALADIE D'ALZHEIMER Download PDF

Info

Publication number
WO2003107008A3
WO2003107008A3 PCT/EP2003/006315 EP0306315W WO03107008A3 WO 2003107008 A3 WO2003107008 A3 WO 2003107008A3 EP 0306315 W EP0306315 W EP 0306315W WO 03107008 A3 WO03107008 A3 WO 03107008A3
Authority
WO
WIPO (PCT)
Prior art keywords
disease
hydroxysteroid dehydrogenase
polymorphism
developing alzheimer
identifying risk
Prior art date
Application number
PCT/EP2003/006315
Other languages
English (en)
Other versions
WO2003107008A2 (fr
Inventor
Quervain Dominique De
Andreas Papassotiropoulos
Original Assignee
Univ Zuerich
Quervain Dominique De
Andreas Papassotiropoulos
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Univ Zuerich, Quervain Dominique De, Andreas Papassotiropoulos filed Critical Univ Zuerich
Priority to EP03759962A priority Critical patent/EP1514119A2/fr
Priority to AU2003246438A priority patent/AU2003246438A1/en
Publication of WO2003107008A2 publication Critical patent/WO2003107008A2/fr
Publication of WO2003107008A3 publication Critical patent/WO2003107008A3/fr

Links

Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/0004—Oxidoreductases (1.)
    • C12N9/0006—Oxidoreductases (1.) acting on CH-OH groups as donors (1.1)
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/68—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • G01N33/6893—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids related to diseases not provided for elsewhere
    • G01N33/6896—Neurological disorders, e.g. Alzheimer's disease
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/28—Neurological disorders
    • G01N2800/2814—Dementia; Cognitive disorders
    • G01N2800/2821—Alzheimer

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Organic Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Molecular Biology (AREA)
  • Biomedical Technology (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Biotechnology (AREA)
  • Analytical Chemistry (AREA)
  • Biochemistry (AREA)
  • Immunology (AREA)
  • General Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Microbiology (AREA)
  • Pathology (AREA)
  • Medicinal Chemistry (AREA)
  • Physics & Mathematics (AREA)
  • Urology & Nephrology (AREA)
  • General Engineering & Computer Science (AREA)
  • Hematology (AREA)
  • Cell Biology (AREA)
  • Neurosurgery (AREA)
  • Neurology (AREA)
  • Biophysics (AREA)
  • Food Science & Technology (AREA)
  • General Physics & Mathematics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)

Abstract

La présente invention est fondée sur l'association surprenante d'un polymorphisme dans le gène codant pour HSD11B1 avec un risque génétique accru de développement d'une maladie neurodégénérative, en particulier la maladie d'Alzheimer, et concerne une méthode permettant de diagnostiquer et de pronostiquer une telle maladie, ou de déterminer la propension ou la prédisposition d'un sujet à développer une telle maladie. Ladite méthode consiste à détecter la présence ou l'absence d'un polymorphisme de nucléotide simple dans le gène codant pour HSD11B1.
PCT/EP2003/006315 2002-06-17 2003-06-16 POLYMORPHISME DIAGNOSTIQUE DE LA 11ss-HYDROXYSTÉROÏDE DÉSHYDROGÉNASE UTILE POUR IDENTIFIER LE RISQUE DE DÉVELOPPEMENT DE LA MALADIE D'ALZHEIMER WO2003107008A2 (fr)

Priority Applications (2)

Application Number Priority Date Filing Date Title
EP03759962A EP1514119A2 (fr) 2002-06-17 2003-06-16 Polymorphisme diagnostique de la 11 -hydroxyst ro de d shydrog nase utile pour identifier le risque de d veloppement de la maladie d'alzheimer
AU2003246438A AU2003246438A1 (en) 2002-06-17 2003-06-16 DIAGNOSTIC POLYMORPHISM OF 11ss-HYDROXYSTEROID DEHYDROGENASE USEFUL FOR IDENTIFYING RISK OF DEVELOPING ALZHEIMER'S DISEASE

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
EP02013239.5 2002-06-17
EP02013239 2002-06-17

Publications (2)

Publication Number Publication Date
WO2003107008A2 WO2003107008A2 (fr) 2003-12-24
WO2003107008A3 true WO2003107008A3 (fr) 2004-03-25

Family

ID=29724390

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/EP2003/006315 WO2003107008A2 (fr) 2002-06-17 2003-06-16 POLYMORPHISME DIAGNOSTIQUE DE LA 11ss-HYDROXYSTÉROÏDE DÉSHYDROGÉNASE UTILE POUR IDENTIFIER LE RISQUE DE DÉVELOPPEMENT DE LA MALADIE D'ALZHEIMER

Country Status (3)

Country Link
EP (1) EP1514119A2 (fr)
AU (1) AU2003246438A1 (fr)
WO (1) WO2003107008A2 (fr)

Non-Patent Citations (12)

* Cited by examiner, † Cited by third party
Title
"A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms", NATURE, MACMILLAN JOURNALS LTD. LONDON, GB, vol. 409, 15 February 2001 (2001-02-15), pages 928 - 933, XP002193850, ISSN: 0028-0836 *
DATABASE SNP-DATABASE OF NCBI [online] 29 January 2001 (2001-01-29), XP002220033, retrieved from SNP-DATABASE OF NCBI Database accession no. rs846911 *
DATABASE SNP-DATABASE OF NCBI [online] 9 February 2000 (2000-02-09), XP002263453, retrieved from SNP-DATABASE OF NCBI Database accession no. rs860150 *
DE KLOET E RONALD ET AL: "Brain corticosteroid receptor balance in health and disease.", ENDOCRINE REVIEWS, vol. 19, no. 3, June 1998 (1998-06-01), pages 269 - 301, XP002220013, ISSN: 0163-769X *
KNIGHT J C ET AL: "A polymorphism that affects OCT-1 binding to the TNF promoter region is associated with severe malaria [see comments]", NATURE GENETICS, NATURE AMERICA, NEW YORK, US, vol. 22, no. 2, June 1999 (1999-06-01), pages 145 - 150, XP002139041, ISSN: 1061-4036 *
KOTELEVTSEV YURI ET AL: "11beta-hydroxysteroid dehydrogenase type 1 knockout mice show attenuated glucocorticoid-inducible responses and resist hyperglycemia on obesity or stress.", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES, vol. 94, no. 26, 23 December 1997 (1997-12-23), Dec. 23, 1997, pages 14924 - 14929, XP002220014, ISSN: 0027-8424 *
RAJAN VIDYA ET AL: "11-beta-Hydroxysteroid dehydrogenase in cultured hippocampal cells reactivates inert 11-dehydrocorticosterone, potentiating neurotoxicity", JOURNAL OF NEUROSCIENCE, vol. 16, no. 1, 1996, pages 65 - 70, XP002263452, ISSN: 0270-6474 *
SECKL J R ET AL: "Enzymes, receptors and glucocorticoid action on the brain.", JOURNAL OF ENDOCRINOLOGY, vol. 156, no. SUPPL., March 1998 (1998-03-01), 17th Joint Meeting of the British Endocrine Societies;Edinburgh, Scotland, UK; March 23-25, 1998, pages S24, XP008009951, ISSN: 0022-0795 *
SEIGEL A T ET AL: "Homology modelling of the 11beta-hydroxysteroid dehydrogenase isozymes.", BRITISH JOURNAL OF PHARMACOLOGY, vol. 134, no. Proceedings Supplement, November 2001 (2001-11-01), Meeting of the British Pharmacological Society;Dublin, Ireland; July 03-05, 2001, pages 113P, XP001051165, ISSN: 0007-1188 *
VESELL E S: "INTRODUCTION", PHARMACOLOGY, XX, XX, vol. 61, no. 3, 2000, pages 118 - 123, XP008001593, ISSN: 0031-7012 *
WU GARY D ET AL: "Oct-1 and CCAAT/enhancer-binding protein (C/EBP) bind to overlapping elements within the interleukin-8 promoter. The role of Oct-1 as a transcriptional repressor.", JOURNAL OF BIOLOGICAL CHEMISTRY, vol. 272, no. 4, 1997, pages 2396 - 2403, XP002222664, ISSN: 0021-9258 *
YAU JOYCE L W ET AL: "Lack of tissue glucocorticoid reactivation in 11beta-hydroxysteroid dehydrogenase type 1 knockout mice ameliorates age-related learning impairments.", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES, vol. 98, no. 8, 10 April 2001 (2001-04-10), April 10, 2001, pages 4716 - 4721, XP002220012, ISSN: 0027-8424 *

Also Published As

Publication number Publication date
AU2003246438A1 (en) 2003-12-31
EP1514119A2 (fr) 2005-03-16
WO2003107008A2 (fr) 2003-12-24
AU2003246438A8 (en) 2003-12-31

Similar Documents

Publication Publication Date Title
Eley et al. Association analysis of MAOA and COMT with neuroticism assessed by peers
Dong et al. Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III
AU4953397A (en) Method for diagnosis of genetic diseases by molecular combing and diagnosis box
GB2444410B (en) Genetic analysis systems and methods
WO2006134390A3 (fr) Methode destinee a diagnostiquer une maladie neurodegenerative
DK1071710T4 (da) Genomisk sekvens for 5-lipoxygenase-aktiveringsproteinet (FLAP), polymorfe markører deri og fremgangsmåder til påvisning af astma
EA199700355A1 (ru) Метод диагностики шизофрении
ATE336591T1 (de) Nachweisverfahren für kurze sequenzvarianten
MX2007016136A (es) Metodo para diagnosticar la enfermedad de alzheimer.
WO2004113570A3 (fr) Essai de genotype
WO2003101177A3 (fr) Diagnostic de predisposition au depot de graisse et procedes therapeutiques permettant la reduction de depot de graisse et traitement des conditions associees
ATE462722T1 (de) Molekularstruktur des rhd-negativ genortes
WO2003107008A3 (fr) POLYMORPHISME DIAGNOSTIQUE DE LA 11ss-HYDROXYSTÉROÏDE DÉSHYDROGÉNASE UTILE POUR IDENTIFIER LE RISQUE DE DÉVELOPPEMENT DE LA MALADIE D'ALZHEIMER
NZ332702A (en) Diagnostic method and apparatus for detecting a predisposition to certain disease states, especially osteoporosis, based on polymorphism in an IL-6 gene
WO2003046579A3 (fr) Procedes d'identification de risque genetique pour le traitement et l'evaluation de traitement de la maladie d'alzheimer par la determination du genotype cyp46
WO2008018789A3 (fr) Procédés et moyens pour diagnostiquer et traiter l'ostéoarthrite
AU2003233292A1 (en) Protein c polymorphisms
WO2003048384A3 (fr) Procedes d'identification de risque genetique et d'evaluation de traitement de la maladie d'alzheimer par la determination de polymorphismes d'un seul nucleotide
DE602004021366D1 (fr)
TW200517502A (en) Methods for detecting Alzheimer's disease
WO2003014879A3 (fr) Systeme et methode d'identification d'un facteur de risque genetique pour une maladie ou une pathologie
WO2003022875A3 (fr) Polymorphismes de pd-1
WO2002004683A3 (fr) Methode de detection d'une sensibilite accrue au cancer du sein
SE0103423D0 (sv) Polymorphism
WO2003050303A3 (fr) Marqueurs bialleliques de diamine oxydase et ses utilisations

Legal Events

Date Code Title Description
AK Designated states

Kind code of ref document: A2

Designated state(s): AE AG AL AM AT AU AZ BA BB BG BR BY BZ CA CH CN CO CR CU CZ DE DK DM DZ EC EE ES FI GB GD GE GH GM HR HU ID IL IN IS JP KE KG KP KR KZ LC LK LR LS LT LU LV MA MD MG MK MN MW MX MZ NI NO NZ OM PG PH PL PT RO RU SC SD SE SG SK SL TJ TM TN TR TT TZ UA UG US UZ VC VN YU ZA ZM ZW

AL Designated countries for regional patents

Kind code of ref document: A2

Designated state(s): GH GM KE LS MW MZ SD SL SZ TZ UG ZM ZW AM AZ BY KG KZ MD RU TJ TM AT BE BG CH CY CZ DE DK EE ES FI FR GB GR HU IE IT LU MC NL PT RO SE SI SK TR BF BJ CF CG CI CM GA GN GQ GW ML MR NE SN TD TG

121 Ep: the epo has been informed by wipo that ep was designated in this application
DFPE Request for preliminary examination filed prior to expiration of 19th month from priority date (pct application filed before 20040101)
WWE Wipo information: entry into national phase

Ref document number: 2003759962

Country of ref document: EP

WWP Wipo information: published in national office

Ref document number: 2003759962

Country of ref document: EP

NENP Non-entry into the national phase

Ref country code: JP

WWW Wipo information: withdrawn in national office

Country of ref document: JP

点击 这是indexloc提供的php浏览器服务，不要输入任何密码和下载