Figure 2.
Penetrance of pathogenic HNF4A variants is lower in clinically unselected cohorts compared to a clinically ascertained cohort
(A) Kaplan Meier survival curves of diabetes for individuals with (dashed line) and without (solid line) HNF4A variants in four study cohorts. Analysis included probands (n = 142), their family members with (n = 169) and without (n = 84) HNF4A variants, individuals with (n = 17) and without (n = 132,177) HNF4A variants from Geisinger health system cohort, and individuals with (n = 29) and without (n = 198,719) HNF4A variants from UK Biobank population cohort. The log rank test p value for penetrance of diabetes for probands versus family member, Geisinger cohort, and UK Biobank cohort was 8 × 10−11, 2 × 10−12, and 3 × 10−19, respectively.
(B) Penetrance of diabetes for individuals with pathogenic HNF4A variants in all four cohorts at age 50 years with 95%CI.