全基因组关联研究确定的参与免疫反应的多发性硬化症风险位点：在俄罗斯人群中的验证
GWAS-identified multiple sclerosis risk loci involved in immune response: validation in Russians.
作者信息
Bashinskaya V V, Kulakova O G, Kiselev I S, Baulina N M, Favorov A V, Boyko A N, Tsareva E Yu, Favorova O O
机构信息
Pirogov Russian National Research Medical University, Ostrovitianov str. 1, 117997 Moscow, Russia; Russian Cardiology Scientific and Production Center, 3-d Cherepkovskaya str, 15A, Moscow 121552 Russia.
Pirogov Russian National Research Medical University, Ostrovitianov str. 1, 117997 Moscow, Russia; Russian Cardiology Scientific and Production Center, 3-d Cherepkovskaya str, 15A, Moscow 121552 Russia.
出版信息
J Neuroimmunol. 2015 May 15;282:85-91. doi: 10.1016/j.jneuroim.2015.03.015. Epub 2015 Mar 17.
Multiple sclerosis (MS) is a chronic neuro-inflammatory disease of complex etiology. The results of GWAS, a high-throughput method to discover genetic architecture of MS, require replication in independent ethnic groups. We performed a replication study of nine GWAS-identified SNPs in immune response in Russians. Associations of CLEC16A and IL2RA with MS were validated. Besides, we observed the associations of CLEC16A and IRF8 in women, and IL7RA and CD58 in men. With multi-locus association analysis two protective biallelic combinations: (TNFRSF1AT+CLEC16AA) and (TNFRSF1AT+IRF8A) were identified in women. Associations of CLEC16A*G/G and both biallelic combinations in women with MS survived the permutation test.
多发性硬化症（MS）是一种病因复杂的慢性神经炎症性疾病。全基因组关联研究（GWAS）是一种发现MS遗传结构的高通量方法，其结果需要在独立的种族群体中进行验证。我们对俄罗斯人群中9个GWAS鉴定出的免疫反应单核苷酸多态性（SNP）进行了重复研究。验证了CLEC16A和IL2RA与MS的关联。此外，我们观察到女性中CLEC16A和IRF8以及男性中IL7RA和CD58的关联。通过多位点关联分析，在女性中鉴定出两种保护性双等位基因组合：（TNFRSF1AT + CLEC16AA）和（TNFRSF�1AT + IRF8A）。女性中CLEC16A*G/G以及两种双等位基因组合与MS的关联在置换检验中得以保留。
Zotero 插件