疾病
全基因组关联研究
生物
自身免疫性疾病
遗传关联
遗传学
免疫系统
进化生物学
基因
计算生物学
医学
基因型
单核苷酸多态性
病理
抗体
作者
Adil Harroud,David A. Hafler
出处
期刊:Science
[American Association for the Advancement of Science (AAAS)]
日期:2023-05-04
卷期号:380 (6644): 485-490
被引量:25
标识
DOI:10.1126/science.adg2992
摘要
Autoimmune diseases display a high degree of comorbidity within individuals and families, suggesting shared risk factors. Over the past 15 years, genome-wide association studies have established the polygenic basis of these common conditions and revealed widespread sharing of genetic effects, indicative of a shared immunopathology. Despite ongoing challenges in determining the precise genes and molecular consequences of these risk variants, functional experiments and integration with multimodal genomic data are providing valuable insights into key immune cells and pathways driving these diseases, with potential therapeutic implications. Moreover, genetic studies of ancient populations are shedding light on the contribution of pathogen-driven selection pressures to the increased prevalence of autoimmune disease. This Review summarizes the current understanding of autoimmune disease genetics, including shared effects, mechanisms, and evolutionary origins.
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