[α-突触核蛋白基因微卫星多态性与晚发性散发性帕金森病易感性]

[The alpha-synuclein gene microsatellite polymorphism and late-onset sporadic Parkinson's disease susceptibility].

作者信息

Zhao Xiao-ping, Zheng Hui-min, Xie Hui-jun, Ding Su-ju, Ren Da-ming

机构信息

Department of Neurology, Changhai Hospital, the Second Military Medical University, Shanghai, 200433 PR China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Aug;21(4):339-41.

PMID:15300629

Abstract

OBJECTIVE

To explore the association of the microsatellite polymorphisms in the promoter region of alpha-synuclein gene with the late-onset sporadic Parkinson's disease (PD) susceptibility.

METHODS

The microsatellite polymorphism of alpha-synuclein gene was analyzed with amplified fragment length polymorphism (Amp-FLP) and semiautomatic fluorescent labeled genotyping technique. Association analysis was performed in 135 unrelated late-onset sporadic PD patients and 170 age-matched healthy controls.

RESULTS

The distribution of the alleles of the dinucleotide repeats variants of alpha-synuclein gene promoter region in PD cases was significantly different from that in the healthy controls. The most frequent allele in PD patients was allele 269 bp, but in controls it was the 271 bp allele. Alleles of <or=267 bp showed positive correlation with PD risk (OR=5.228, 95%CI: 1.248-27.202, chi-square=6.416, P=0.011), while the 273 bp allele was negatively correlated to PD (OR=0.638, 95%CI: 0.440-0.926, chi-square=5.644, P=0.018). Furthermore, no difference of genotype polymorphism distribution was shown between the two groups (chi-square=16.368, df=12, P=0.175). But the genotypes containing <or=267 bp allele may increase the susceptibility to PD (OR=4.594, 95%CI: 0.94-22.49, chi-square=4.224, P=0.04). Heterozygosity was 40% in PD patients, and 50% in controls.

CONCLUSION

alpha-synuclein microsatellite polymorphism might be a genetic susceptibility factor for late-onset sporadic PD.

摘要

目的

探讨α-突触核蛋白基因启动子区域微卫星多态性与晚发型散发性帕金森病（PD）易感性的关系。

方法

采用扩增片段长度多态性（Amp-FLP）和半自动荧光标记基因分型技术分析α-突触核蛋白基因的微卫星多态性。对135例无亲缘关系的晚发型散发性PD患者和170例年龄匹配的健康对照进行关联分析。

结果

α-突触核蛋白基因启动子区域二核苷酸重复变异体的等位基因在PD患者中的分布与健康对照者有显著差异。PD患者中最常见的等位基因为269 bp等位基因，而对照组中为271 bp等位基因。≤267 bp的等位基因与PD风险呈正相关（OR = 5.228，95%CI：1.248 - 27.202，χ² = 6.416，P = 0.011），而273 bp等位基因与PD呈负相关（OR = 0.638，95%CI：0.440 - 0.926，χ² = 5.644，P = 0.018）。此外，两组间基因型多态性分布无差异（χ² = 16.368，df = 12，P = 0.175）。但含有≤267 bp等位基因的基因型可能增加PD易感性（OR = 4.594，95%CI：0.94 - 22.49，χ² = 4.224，P = 0.04）。PD患者的杂合度为40%，对照组为50%。