Population Genetics and Natural Selection in Rheumatic Disease

Abstract

Human genetic diversity is the result of population genetic forces. This genetic variation influences disease risk and contributes to health disparities. Natural selection is an important influence on human genetic variation. Because immune and inflammatory function genes are enriched for signals of positive selection, the prevalence of rheumatic disease-risk alleles seen in different populations is partially the result of differing selective pressures (eg, due to pathogens). This review summarizes the genetic regions associated with susceptibility to different rheumatic diseases and concomitant evidence for natural selection, including known agents of selection exerting selective pressure in these regions.

Keywords: Adaptation; Genetic disease association; Genetic disease risk; Genetic diversity; Genetic variation; Natural selection; Population genetics; Rheumatic diseases.