Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing 100730, China.
Chin Med J (Engl). 2009 Dec 20;122(24):2989-92.
Amyotrophic lateral sclerosis (ALS) is a progressive degenerative disease characterized by the loss of motor neurons in the spinal cord, brainstem, and cerebral cortex, which results in muscle weakness, atrophy. Sporadic ALS (SALS) accounts for about 90% of ALS cases, but the etiology is largely unknown. Most of the researchers consider it to be a complex disease. There have been several genome-wide association (GWA) studies reporting several single nucleotide polymorphisms (SNPs) which are susceptible to ALS, but no data of Asians (including Chinese) yet. We investigate whether the polymorphism of rs10260404 in DPP6 gene is associated with SALS in Chinese Han origin to compare the ethnic differences between Chinese Han origin and other populations.
The genomic DNA was extracted from the leukocytes of whole blood samples in 58 Chinese Han patients with SALS and 52 healthy controls. The asymmetric PCR was processed in the presence of an unlabeled probe that contained the rs10260404 locus. The product was genotyped on a light scanner using high resolution melting method and some were confirmed with sequencing.
The rs10260404 polymorphism was in Hardy-Weinberg equilibrium in patients and controls. The CC genotype and the C allele were similar in patients compared with healthy subjects and not associated with an increased risk of Chinese SALS patients (chi(2) = 0.29, OR = 1.26, 95% CI 0.55 - 2.87, P > 0.05).
The rs10260404 is not associated with ALS susceptibility in Chinese people with Han origin which may be due to ethnic differences. More study with large number of cases in Chinese population is really necessary.
肌萎缩侧索硬化症（ALS）是一种进行性退行性疾病，其特征是脊髓、脑干和大脑皮层中的运动神经元丧失，导致肌肉无力和萎缩。散发性 ALS（SALS）占 ALS 病例的约 90％，但病因在很大程度上尚不清楚。大多数研究人员认为它是一种复杂的疾病。已经有几项全基因组关联（GWA）研究报告了几种易患 ALS 的单核苷酸多态性（SNP），但尚无亚洲人（包括中国人）的数据。我们调查了 DPP6 基因中 rs10260404 多态性是否与中国人中的 SALS 相关，以比较汉族与其他人群之间的种族差异。
从 58 例汉族 SALS 患者和 52 例健康对照者的全血白细胞中提取基因组 DNA。在存在包含 rs10260404 位点的未标记探针的情况下进行不对称 PCR。使用高分辨率熔解方法在光扫描仪上对产物进行基因分型，并对一些产物进行测序以进行验证。
rs10260404 多态性在患者和对照组中均处于哈迪-温伯格平衡状态。与健康受试者相比，CC 基因型和 C 等位基因在患者中相似，并且与中国 SALS 患者的风险增加无关（χ 2 = 0.29，OR = 1.26，95％CI 0.55-2.87，P> 0.05）。
rs10260404 与汉族中国人的 ALS 易感性无关，这可能是由于种族差异所致。在中国人中进行更大数量病例的研究确实很有必要。
