Fig. 5: The QTc in p.Asp76Asn carriers compared to population controls.
ECGs meeting criteria detailed in Methods were available for all clinic carriers, and for 13 of 22 biobank (BioVU) carriers. The ancestry-matched BioVU controls with genotype and ECG data (n = 3435) were selected as detailed in Methods. For both carriers and controls, if multiple ECGs were available for a subject, the maximum QTc meeting inclusion criteria was used. Male QTcs were adjusted to female sex by adding 11.3 msec (derived from the difference between males and females in the control group when adjusted for age and PRS). The QTc was prolonged in carriers (465 ± 6.2 msec, n = 25) compared to controls (429 ± 23.3 msec, n = 3435; p-value = 3.3 × 10−5). The horizontal boxplot shows the three quartiles (25%, 50%, and 75%) of the carriers. P-values indicate the result of the two-sided Welch unequal variances t-test between carriers and controls, with p-value < 0.05 considered significant. Source data are provided as a Source Data file.