Rare genetic variants in systemic autoimmunity,Immunology and Cell Biology

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Rare genetic variants in systemic autoimmunity
Immunology and Cell Biology ( IF 3.2 ) Pub Date : 2020-04-21 , DOI: 10.1111/imcb.12339
Simon H Jiang _{1,

2,

3} , Maurice Stanley _{1,

2} , Carola G Vinuesa _{1,

2,

4}

Affiliation

Autoimmune disease is a substantial cause of morbidity and is strongly influenced by genetic risk. Extensive efforts have characterized the overall genetic basis of many autoimmune diseases, typically by investigation of common variants. While these common variants have modest effects and may cumulatively predispose to disease, it is also increasingly apparent that rare variants have significantly greater effect on phenotype and are likely to contribute to autoimmune disease. Recent advances have illustrated the next fundamental step in elucidating the genetic basis of autoimmunity, moving beyond association to demonstrate the functional consequences of these variants.

中文翻译：

全身自身免疫中罕见的遗传变异

自身免疫性疾病是发病的重要原因，并受到遗传风险的强烈影响。广泛的努力已表征了许多自身免疫性疾病的总体遗传基础，通常是通过研究常见变异来表征的。尽管这些常见变体的影响不大，并可能易患疾病，但越来越明显的是，稀有变体对表型的影响显着更大，并可能导致自身免疫性疾病。最近的进展说明了阐明自身免疫性遗传基础的下一个基本步骤，超越了关联性，以证明这些变异的功能性后果。

更新日期：2020-04-21

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