风湿性疾病中的群体遗传学与自然选择
Population Genetics and Natural Selection in Rheumatic Disease.
作者信息
Ramos Paula S
机构信息
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.
出版信息
Rheum Dis Clin North Am. 2017 Aug;43(3):313-326. doi: 10.1016/j.rdc.2017.04.001.
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.
摘要
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。
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2
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Nat Rev Rheumatol. 2015 Jul;11(7):401-14. doi: 10.1038/nrrheum.2015.41. Epub 2015 Apr 28.
3
A method for calculating probabilities of fitness consequences for point mutations across the human genome.一种计算人类基因组中单个点突变适应性后果概率的方法。
Nat Genet. 2015 Mar;47(3):276-83. doi: 10.1038/ng.3196. Epub 2015 Jan 19.
4
State of the art: Reproduction and pregnancy in rheumatic diseases.最新进展：风湿性疾病中的生殖与妊娠。
Autoimmun Rev. 2015 May;14(5):376-86. doi: 10.1016/j.autrev.2014.12.011. Epub 2014 Dec 30.
5
A neutrality test for detecting selection on DNA methylation using single methylation polymorphism frequency spectrum.一种利用单甲基化多态性频谱检测DNA甲基化选择的中性检验。
Genome Biol Evol. 2014 Dec 23;7(1):154-71. doi: 10.1093/gbe/evu271.
6
The contribution of natural selection to present-day susceptibility to chronic inflammatory and autoimmune disease.自然选择对当今慢性炎症和自身免疫性疾病易感性的影响。
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7
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Genes Immun. 2015 Jan-Feb;16(1):57-70. doi: 10.1038/gene.2014.63. Epub 2014 Nov 13.
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