SNP rs356219 of the α-synuclein (SNCA) gene is associated with Parkinson's disease in a Chinese Han population
SNP rs356219 of the α-synuclein (SNCA) gene is associated with Parkinson's disease in a Chinese Han population
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DOI：
10.1016/j.parkreldis.2012.01.025
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发表时间：
2012-06-01
影响因子：
4.1
通讯作者：
Ding, Xinsheng
中科院分区：
文献类型：
--
作者：
Pan, Fenghua;Dong, Hairong;Ding, Xinsheng
背景：在过去的几十年里，人们对帕金森病（PD）遗传结构的了解不断增加，为该疾病的发病机制提供了新的见解。最近，针对不同人群的多项研究发现特发性帕金森病与位于 SNCA 基因 3'UTR 的单核苷酸多态性 (SNP) rs356219 之间存在密切关联。在这项研究中，我们旨在验证这些发现，并进一步探讨中国汉族帕金森病患者亚群中这种关联的性质。方法：连续招募了 403 名无关的散发性帕金森病患者和 315 名健康的种族匹配对照受试者进行研究。通过连接酶检测反应（LDR）对患者和正常对照进行SNCA rs356219变异基因分型。结果：PD患者和正常人之间rs356219单个等位基因频率存在统计学差异（chi(2) = 12.986，P = 0.002）。患者和对照之间 A > G 基因型的分布不同 (chi(2) = 13.243，P < 0.001）。具有变异基因型（AG 和 GG）的受试者的 OR 为 1.88（95%Cl = 1.27-2.78，P = 0.001）。该变异的纯合基因型频率为42.2%（170例患者），显着高于对照（32.4%，P < 0.001）。结论：结果提示SNCA rs356219变异可能增加中国汉族人群患帕金森病的风险。需要进一步的研究来复制我们发现的关联。 (C) 2012 Elsevier Ltd. 保留所有权利。
Background: Over the last decades, increasing knowledge about the genetic architecture of Parkinson's disease(PD) has provided novel insights into the pathogenesis of the disorder. Recently, several studies in different populations have found a strong association between idiopathic PD and the single-nucleotide polymorphism (SNP) rs356219, which is located in the 3'UTR of the SNCA gene. In this study, we aimed to verify these findings and to explore further the nature of the association in a subset of Chinese Han PD patients.Methods: Four hundred and three unrelated patients with sporadic PD and 315 healthy ethnically matched control subjects were recruited consecutively for the study. Patients and normal controls were genotyped for SNCA rs356219 variant by ligase detection reaction (LDR).Results: A statistically significant difference was found in the frequencies of the single alleles of rs356219 (chi(2) = 12.986, P = 0.002) between PD patients and normal subjects. The distribution of A > G genotypes was different between patients and controls (chi(2) = 13.243, P < 0.001). The OR for subjects with the variant genotypes (AG and GG) was 1.88 (95%Cl = 1.27-2.78, P = 0.001). The frequencies of the homozygous genotype for this variant was 42.2% (170 patients), which was significantly higher than that in controls (32.4%, P < 0.001).Conclusion: The results suggested that SNCA rs356219 variant might have an increased risk of susceptibility to PD in a Chinese Han population. Further studies are needed to replicate the association that we found. (C) 2012 Elsevier Ltd. All rights reserved.