Center for Human Genetics Research, Vanderbilt University, Nashville, TN 37232, USA.
Semin Immunol. 2009 Dec;21(6):328-33. doi: 10.1016/j.smim.2009.08.003. Epub 2009 Sep 22.
Multiple sclerosis (MS) is an idiopathic autoimmune neurodegenerative disease. Like many common diseases, MS has a genetic component; however, as with most complex diseases, the genetic architecture may be influenced by heterogeneity, incomplete penetrance, polygenic inheritance, and environmental factors. This clinically complex disease has provided great challenges for geneticists over the years. Although the first consistent genetic association to MS (with HLA-DR*1501) was discovered more than 30 years ago, lack of consistently replicated genetic results has plagued the scientific community. New study design methods (particularly genome-wide associations studies [GWAS]) along with genome project data and larger datasets have allowed several additional MS genes to be identified and consistently replicated. Thus, after many years of frustration, the strong genetic component associated with MS is finally beginning to be characterized.
多发性硬化症(MS)是一种特发性自身免疫性神经退行性疾病。与许多常见疾病一样,MS 具有遗传成分;然而,与大多数复杂疾病一样,遗传结构可能受到异质性、不完全外显率、多基因遗传和环境因素的影响。这种临床表现复杂的疾病多年来给遗传学家带来了巨大的挑战。尽管 30 多年前就发现了第一个与 MS 一致的遗传关联(与 HLA-DR*1501 相关),但缺乏一致复制的遗传结果一直困扰着科学界。新的研究设计方法(特别是全基因组关联研究[GWAS])以及基因组计划数据和更大的数据集,使人们能够鉴定并一致复制出几个额外的 MS 基因。因此,经过多年的挫折,与 MS 相关的强烈遗传成分终于开始得到表征。