Department of Neurology and State Key Laboratory of Biotherapy and Cancer Center, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Neurobiol Aging. 2012 Nov;33(11):2721.e3-5. doi: 10.1016/j.neurobiolaging.2012.06.004. Epub 2012 Jul 15.
Recently, 5 single nucleotide polymorphisms (SNPs), rs2306677 in the inositol 1,4,5-triphosphate receptor 2 gene (ITPR2), rs1541160 in the kinesin-association protein 3 gene (KIFAP3), rs6690993 and rs6700125 in the FLJ10986 gene, and rs10260404 in the dipeptidyl-peptidase 6 gene (DPP6) have been reported to be associated with the risk of developing sporadic amyotrophic lateral sclerosis (SALS) in Caucasian populations. However, this association is not consistent among different studies and yet to be tested in Chinese SALS patients. We examined the above SNPs in a large cohort consisting of 395 SALS patients and 288 controls from Southwest China. Our results suggest that these SNPs are unlikely to be a common cause of SALS in Chinese populations.
最近，有研究报道，在非综合征型肌萎缩侧索硬化症（sporadic amyotrophic lateral sclerosis，SALS）患者中，肌球蛋白关联蛋白 3 基因（kinesin-association protein 3 gene，KIFAP3）中的 rs1541160、肌醇 1,4,5-三磷酸受体 2 基因（inositol 1,4,5-triphosphate receptor 2 gene，ITPR2）中的 rs2306677、FLJ10986 基因中的 rs6690993 和 rs6700125 以及二肽基肽酶 6 基因（dipeptidyl-peptidase 6 gene，DPP6）中的 rs10260404 这 5 个单核苷酸多态性（single nucleotide polymorphisms，SNPs）与白种人群 SALS 的发病风险相关。然而，这种相关性在不同的研究中并不一致，仍需在中国 SALS 患者中进行验证。我们在中国西南地区的一个大样本队列（包括 395 例 SALS 患者和 288 名对照）中对上述 SNPs 进行了检测。我们的结果表明，这些 SNPs 不太可能是中国人群 SALS 的常见病因。
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