Endocrine Abstracts

Variation in quantitative traits such as human height is caused by a combination of multiple genes and environmental effects. Traditionally, since Galton in the late 1800s, the genetics of such traits has been studied using concepts that refer to the combined effect of all genes (e.g., heritability). Estimation of heritability for adult height are ~0.8, so that 80% of differences between people is due to genetic factors. Genome-wide association studies (GWAS) facilitate the di...

Endometriosis is a common gynaecological disease associated with severe pelvic pain and sub-fertility. We conducted a genome-wide association (GWA) study in 3,194 surgically confirmed endometriosis cases and 7060 controls of European ancestry from Australia and the UK using 540,000 genetic markers (SNPs). Polygenic predictive modelling showed significantly increased genetic loading among the 1364 (43%) cases with moderate-severe (rAFS III/IV) endometriosis. The strongest assoc...