驱动蛋白家族成员1B（KIF1B）基因座的遗传变异会影响患多发性硬化症的易感性。
Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis.
作者信息
Aulchenko Yurii S, Hoppenbrouwers Ilse A, Ramagopalan Sreeram V, Broer Linda, Jafari Naghmeh, Hillert Jan, Link Jenny, Lundström Wangko, Greiner Eva, Dessa Sadovnick A, Goossens Dirk, Van Broeckhoven Christine, Del-Favero Jurgen, Ebers George C, Oostra Ben A, van Duijn Cornelia M, Hintzen Rogier Q
机构信息
Genetic Epidemiology Unit, Department of Epidemiology and Biostatistics and Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
出版信息
Nat Genet. 2008 Dec;40(12):1402-3. doi: 10.1038/ng.251. Epub 2008 Nov 9.
The few loci associated with multiple sclerosis (MS) are all related to immune function. We report a GWA study identifying a new locus replicated in 2,679 cases and 3,125 controls. An rs10492972[C] variant located in the KIF1B gene was associated with MS with an odds ratio of 1.35 (P = 2.5 x 10(-10)). KIF1B is a neuronally expressed gene plausibly implicated in the irreversible axonal loss characterizing MS in the long term.
与多发性硬化症（MS）相关的少数基因座均与免疫功能有关。我们报告了一项全基因组关联研究，该研究确定了一个在2679例病例和3125例对照中得到重复验证的新基因座。位于KIF1B基因中的rs10492972[C]变异与MS相关，优势比为1.35（P = 2.5×10⁻¹⁰）。KIF1B是一个在神经元中表达的基因，可能与MS长期特征性的不可逆轴突损失有关。
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