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中国汉族人群二酰基甘油激酶 δ 单核苷酸多态性与帕金森病的基因型分析。

Analysis of the genotype of diacylglycerol kinase delta single-nucleotide polymorphisms in Parkinson disease in the Han Chinese population.

机构信息

Department of Neurology, West China Hospital, SiChuan University, Chengdu Sichuan, China.

出版信息

Neurol India. 2012 Jan-Feb;60(1):82-5. doi: 10.4103/0028-3886.93607.

Abstract

Numerous Single-Nucleotide Polymorphisms (SNPs) of the Diacylglycerol Kinase Delta (DGKD) isoform 1 gene have been associated with Parkinson Disease (PD) in the genome-wide association studies of Caucasian population. This association has not been proven in the Han Chinese PD patients. This study included 376 unrelated Han Chinese PD patients from West China and 273 unrelated healthy controls from the same region. Five SNPs (rs2971859, rs1550532, rs2305539, rs2034762, and rs2242102) were genotyped using the Sequenom iPLEX Assay technology. No significant differences were observed in genotype frequencies and in the Minor Allele Frequency (MAF) in the five SNPs between PD patients and controls, early-onset PD and controls, late-onset PD and controls, and between early-onset and late-onset PD patients. The present study is the first to report on the lack of association of DGKD SNPs with PD in the Han Chinese population. More related studies involving larger numbers of participants are necessary to confirm the present finding.

摘要

已有大量研究表明,二酰基甘油激酶 δ(DGKD)同工型 1 基因的多个单核苷酸多态性(SNPs)与高加索人群的帕金森病(PD)的全基因组关联研究有关。然而,这种关联在汉族 PD 患者中尚未得到证实。本研究纳入了来自华西地区的 376 名汉族 PD 患者(均为散发)和 273 名来自同一地区的健康对照者。采用Sequenom iPLEX assay 技术对 5 个 SNP(rs2971859、rs1550532、rs2305539、rs2034762 和 rs2242102)进行基因分型。PD 患者与对照组、早发性 PD 患者与对照组、晚发性 PD 患者与对照组、早发性与晚发性 PD 患者之间,在这 5 个 SNP 的基因型频率和次要等位基因频率(MAF)方面均无显著差异。本研究首次报道 DGKD SNP 与汉族 PD 无关。需要开展更多相关的大样本量研究来验证本研究结果。

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