Influence of autozygosity on common disease risk across the phenotypic spectrum.

ABSTRACT: Autozygosity is associated with rare Mendelian disorders and clinically relevant quantitative traits. We investigated associations between the fraction of the genome in runs of homozygosity (F_ROH) and common diseases in Genes & Health (n = 23,978 British South Asians), UK Biobank (n = 397,184), and 23andMe. We show that restricting analysis to offspring of first cousins is an effective way of reducing confounding due to social/environmental correlates of F_ROH. Within this group in G&H+UK Biobank, we found experiment-wide significant associations between F_ROH and twelve common diseases. We replicated associations with type 2 diabetes (T2D) and post-traumatic stress disorder via within-sibling analysis in 23andMe (median n = 480,282). We estimated that autozy

SUBMITTER: Malawsky DS 

PROVIDER: S-EPMC10580289 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature