Genome-wide analyses identify 21 infertility loci and over 400 reproductive hormone loci across the allele frequency spectrum.

ABSTRACT: Genome-wide association studies (GWASs) may help inform treatments for infertility, whose causes remain unknown in many cases. Here we present GWAS meta-analyses across six cohorts for male and female infertility in up to 41,200 cases and 687,005 controls. We identified 21 genetic risk loci for infertility (P≤5E-08), of which 12 have not been reported for any reproductive condition. We found positive genetic correlations between endometriosis and all-cause female infertility (r _g=0.585, P=8.98E-14), and between polycystic ovary syndrome and anovulatory infertility (r _g=0.403, P=2.16E-03). The evolutionary persistence of female infertility-risk alleles in EBAG9 may be explained by recent directional selection. We additionally i

SUBMITTER: Venkatesh SS 

PROVIDER: S-EPMC10984039 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature