大量迹象表明遗传因素对MG的影响存在先天性个体差异,并影响临床症状的表现。为了分析这些与MG 相关的基因,在MGFA的支持下成立了GWAS。该项研究的最终目的是弄清遗传因素对MG的潜在影响并以相关遗传基因为向导提出新的治疗MG 的有效措施。
这项研究,将对来自1000余名MG 患者的大量基因进行分析。通过与北美14家MG 中心协作,我们收集了大量来自患者口腔的DNA样本(取自唾液),还有来自临床的资料(保密),其中包含可能涉及到个体遗传性质的因素。
2010年1月末,各地开始收集DNA样本和临床资料。我们获得了500余个DNA样本和相关的临床资料,从中我们发现大约6%的患者有MG家族史,26%的患者伴有其他自身免疫性疾病,30%的患者有自身免疫性疾病家族史。这个数字远高于预计的非MG人群。
DNA 样本和临床资料收集完毕后,将在Bryan Traynor博士的指导下在美国国立卫生院由参与研究的人员进行分析。他们将分析来自患者的70万个DNA样本,这些遗传信息将通过计算机运用生物信息技术处理,从而确定出与MG有关的基因。
PS.原文如下:
This study involves analysis of a very large number of genes from more than 1,000 MG patients. In collaboration with 14 MG centers throughout North America, we are collecting DNA from saliva samples and clinical information (kept confidential) that includes factors likely related to the individual’s genetic makeup, such as gender, age of onset of MG symptoms, severity, association with other autoimmune diseases, family history of MG or other autoimmune diseases, and response to treatments.
The collection of DNA and information began at the end of January 2010. We have obtained more than 500 DNA specimens and related clinical information and have found that about 6 percent of these patients have a family member who is also affected by MG. 26 percent of the patients have additional autoimmune disorders and 30 percent have a family member with an autoimmune disorder. These numbers are far higher than expected for the non-MG population, and support the idea that genetic factors are involved.
When the DNA and clinical information collection is completed, the material will be analyzed by collaborators at the National Institutes of Health, under the direction of Dr. Bryan Traynor. They
will analyze 700,000 genes from each patient’s DNA. The genetic information will be processed by computers, using bioinformatic methods, to determine which genes are associated with MG.
以上来自美国MG基金会网站