医学
类风湿性关节炎
疾病
遗传建筑学
孟德尔遗传
遗传关联
全基因组关联研究
发病机制
危险分层
生物信息学
重症监护医学
免疫学
单核苷酸多态性
内科学
遗传学
基因型
基因
环境卫生
生物
人口
数量性状位点
作者
Seema Sharma,Shek H. Leung,Sébastien Viatte
标识
DOI:10.1016/j.berh.2024.101968
摘要
In the past four decades, a plethora of genetic association studies have been carried out in cohorts of patients with rheumatoid arthritis. These studies have highlighted key aspects of disease pathogenesis and suggested causal mechanisms. In this review, we discuss major advances in our understanding of the genetic architecture of rheumatoid arthritis susceptibility, severity and treatment response and explain how genetics supports current models of disease pathogenesis and outcome. We outline future research directions, like Mendelian randomisation, and present a number of potential avenues for clinical translation, including risk and outcome prediction, patient stratification into treatment response groups and pharmacological applications.
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