Phenome-wide HLA association landscape of 235,000 Finnish biobank participants

Abstract

AbstractThe human leukocyte antigen (HLA) system is the single most important genetic susceptibility factor for many autoimmune diseases and immunological traits. However, in a range of clinical phenotypes the impact of HLA alleles or their combinations on the disease risk are not comprehensively understood.For systematic population-level analysis of HLA-phenotype associations we imputed the alleles of classical HLA genes in a discovery cohort of 146,630 and replication cohort of 89,340 Finns of whom SNP genotype data and 3,355 disease phenotypes were available as part of the FinnGen project.The results suggest HLA associations in phenotypes not reported previously and highlight interactions between HLA genes and alleles in autoimmune diseases. Furthermore, shared HLA alleles in autoimmune and infectious diseases support a genetic link between these diseases.