一个国际科学家团队8月10日报告说，他们新发现了29个与多发性硬化症有关的基因，将有助于增进对这一中枢神经系统疾病的理解。
科学家们研究了近1万名发性硬化症患者以及1.7万名健康人的脱氧核糖核酸，确认了23个此前已知与多发性硬化症有关的基因，并发现了29个与此疾病相关的新基因。
参与此次研究的美国范德比尔特大学人类基因研究中心主任乔纳森·海恩说，新发现的关联基因显示了多发性硬化症的复杂性，并提供了研究其发病机理的新线索。
多发性硬化症患者自身免疫细胞会错误攻击神经元髓鞘，造成患者出现视觉障碍、肌肉无力等症状。美国国家多发性硬化症协会数据显示，全球约有210万名多发性硬化症患者。
此次的研究论文10日发表在英国《自然》杂志上。(生物谷 Bioon.com)
doi:10.1038/nature10251
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Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
The International Multiple Sclerosis Genetics Consortium & The Wellcome Trust Case Control Consortium
Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability1. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals2, 3, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk4. Modestly powered genome-wide association studies (GWAS)5, 6, 7, 8, 9, 10 have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility11. Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups. In a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, we have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci. Within the MHC we have refined the identity of the HLA-DRB1 risk alleles and confirmed that variation in the HLA-A gene underlies the independent protective effect attributable to the class I region. Immunologically relevant genes are significantly overrepresented among those mapping close to the identified loci and particularly implicate T-helper-cell differentiation in the pathogenesis of multiple sclerosis.
