The genetic basis of infertility and reproductive hormones across the allele frequency spectrum


Genome-wide association studies (GWASs) may help inform treatments for infertility, which is a common, complex condition with an unknown cause in many cases. We performed GWAS meta-analyses across six cohorts for male and female infertility (in up to 41,200 cases and 687,005 controls), as well as sex-specific reproductive hormones, to identify 21 genetic risk loci for infertility and over 269 loci for hormone levels. We also performed exome sequencing analyses in the UK Biobank to query rare variant contributions to infertility and reproductive hormone levels. We assessed evidence for overlap between the genetic architecture of infertility, hormones, and other female reproductive conditions such as endometriosis and PCOS using a variety of statistical tools. In this talk, I will provide a comprehensive view of the genetic architecture of infertility across multiple diagnostic criteria in men and women, and characterise its relationship to other health conditions.