一個(gè)國際科學(xué)家團(tuán)隊(duì)8月10日?qǐng)?bào)告說,，他們新發(fā)現(xiàn)了29個(gè)與多發(fā)性硬化癥有關(guān)的基因,，將有助于增進(jìn)對(duì)這一中樞神經(jīng)系統(tǒng)疾病的理解,。
科學(xué)家們研究了近1萬名發(fā)性硬化癥患者以及1.7萬名健康人的脫氧核糖核酸,，確認(rèn)了23個(gè)此前已知與多發(fā)性硬化癥有關(guān)的基因,，并發(fā)現(xiàn)了29個(gè)與此疾病相關(guān)的新基因,。
參與此次研究的美國范德比爾特大學(xué)人類基因研究中心主任喬納森·海恩說，新發(fā)現(xiàn)的關(guān)聯(lián)基因顯示了多發(fā)性硬化癥的復(fù)雜性,，并提供了研究其發(fā)病機(jī)理的新線索,。
多發(fā)性硬化癥患者自身免疫細(xì)胞會(huì)錯(cuò)誤攻擊神經(jīng)元髓鞘，造成患者出現(xiàn)視覺障礙,、肌肉無力等癥狀,。美國國家多發(fā)性硬化癥協(xié)會(huì)數(shù)據(jù)顯示，全球約有210萬名多發(fā)性硬化癥患者,。
此次的研究論文10日發(fā)表在英國《自然》雜志上,。(生物谷 Bioon.com)
doi:10.1038/nature10251
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PMID:
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.
