多发性硬化
生物
遗传学
基因
全基因组关联研究
遗传关联
遗传力缺失问题
遗传变异
进化生物学
单核苷酸多态性
免疫学
基因型
作者
Stephen Sawcer,Robin J.M. Franklin,Maria Ban
标识
DOI:10.1016/s1474-4422(14)70041-9
摘要
Genome-wide association studies have revolutionised the genetic analysis of multiple sclerosis. Through international collaborative efforts involving tens of thousands of cases and controls, more than 100 associated common variants have now been identified. These variants consistently implicate genes associated with immunological processes, overwhelmingly lie in regulatory rather than coding regions, and are frequently associated with other autoimmune diseases. The functional implications of these associated variants are mostly unknown; however, early work has shown that several variants have effects on splicing that result in meaningful changes in the balance between different isoforms in relevant tissues. Including the well established risk attributable to variants in genes encoding human leucocyte antigens, only about a quarter of reported heritability can now be accounted for, suggesting that a substantial potential for further discovery remains.
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