Ramos Paula S
Division of Rheumatology and Immunology, Department of Medicine, Medical University of South Carolina, 96 Jonathan Lucas Street, Suite 816, Charleston, SC 29425, USA; Department of Public Health Sciences, Medical University of South Carolina, Charleston, SC, USA.
Rheum Dis Clin North Am. 2017 Aug;43(3):313-326. doi: 10.1016/j.rdc.2017.04.001.
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.
人类遗传多样性是群体遗传力量作用的结果。这种遗传变异影响疾病风险并导致健康差异。自然选择是影响人类遗传变异的一个重要因素。由于免疫和炎症功能基因富含正选择信号，不同人群中所见的风湿性疾病风险等位基因的流行率部分是不同选择压力（例如，由于病原体）的结果。本综述总结了与不同风湿性疾病易感性相关的遗传区域以及自然选择的相关证据，包括在这些区域施加选择压力的已知选择因素。
