Inherited infertility: Mapping loci associated with impaired female reproduction.

ABSTRACT: Female infertility is a common and complex health problem affecting millions of women worldwide. While multiple factors can contribute to this condition, the underlying cause remains elusive in up to 15%-30% of affected individuals. In our large genome-wide association study (GWAS) of 22,849 women with infertility and 198,989 control individuals from the Finnish population cohort FinnGen, we unveil a landscape of genetic factors associated with the disorder. Our recessive analysis identified a low-frequency stop-gained mutation in TATA-box binding protein-like 2 (TBPL2; c.895A>T [p.Arg299Ter]; minor-allele frequency [MAF] = 1.2%) with an impact comparable to highly penetrant monogenic mutations (odds ratio [OR] = 650, p = 4.1 × 10^-25). While previous studies have linked the orth

SUBMITTER: Ruotsalainen S 

PROVIDER: S-EPMC11639076 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature