一个由多国研究人员组成的小组最新发现，人体内一个与免疫系统有关的基因可能在帕金森氏症病情发展过程中扮演着重要角色。这一发现为探索人体免疫系统与帕金森氏症之间的关系提供了新依据。
美国纽约州沃兹沃斯中心等机构研究人员对2000多名帕金森氏症患者和2000名健康人员进行研究。他们发现，人体白细胞抗原―DR区域内有一个基因变异与帕金森氏症密切相关。人体白细胞抗原―DR区域内包含大量与人类免疫系统相关的基因。
研究小组成员、美国华盛顿大学副教授赛勒斯扎贝蒂昂说：“这意味着免疫系统可能在帕金森氏症病情发展过程中起重要作用，这是我们迄今发现的最好证据。”但目前研究人员尚无法具体确定这个基因。
这项研究成果发表在新一期英国《自然遗传学》（Nature Genetics）杂志网络版上。
生物谷推荐原文出处：
Nature Genetics doi:10.1038/ng.642
Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease
Taye H Hamza1, Cyrus P Zabetian2,3, Albert Tenesa4, Alain Laederach1, Jennifer Montimurro1, Dora Yearout1,2,3, Denise M Kay1, Kimberly F Doheny5, Justin Paschall6, Elizabeth Pugh5, Victoria I Kusel1, Randall Collura1, John Roberts7, Alida Griffith8, Ali Samii2,3, William K Scott9, John Nutt10, Stewart A Factor11 " Haydeh Payami1
Parkinson's disease is a common disorder that leads to motor and cognitive disability. We performed a genome-wide association study of 2,000 individuals with Parkinson's disease (cases) and 1,986 unaffected controls from the NeuroGenetics Research Consortium (NGRC)1, 2, 3, 4, 5. We confirmed associations with SNCA2, 6, 7, 8 and MAPT3, 7, 8, 9, replicated an association with GAK9 (using data from the NGRC and a previous study9, P = 3.2 × 10?9) and detected a new association with the HLA region (using data from the NGRC only, P = 2.9 × 10-8), which replicated in two datasets (meta-analysis P = 1.9 × 10?10). The HLA association was uniform across all genetic and environmental risk strata and was strong in sporadic (P = 5.5 × 10?10) and late-onset (P = 2.4 × 10?8) disease. The association peak we found was at rs3129882, a noncoding variant in HLA-DRA. Two studies have previously suggested that rs3129882 influences expression of HLA-DR and HLA-DQ10, 11. The brains of individuals with Parkinson's disease show upregulation of DR antigens and the presence of DR-positive reactive microglia12, and nonsteroidal anti-inflammatory drugs reduce Parkinson's disease risk4, 13. The genetic association with HLA supports the involvement of the immune system in Parkinson's disease and offers new targets for drug development.
