《中国康复理论与实践》

《中国康复理论与实践》 ›› 2010, Vol. 16 ›› Issue (7): 650-652.

• 论文 • 上一篇    下一篇

Htra2基因内含子5-59A/G位点多态性与帕金森病的相关性研究

赵西耀1，2，陈煜森1，何芳梅1，赵磊1，刘梁芳1，潘剑罡1，赵斌1   

  1. 1.广东医学院附属医院神经内科，广东湛江市 524001；2.建德市第一人民医院神经内科，浙江建德市 311600。
  • 收稿日期:2010-05-20 修回日期:1900-01-01 出版日期:2010-07-25 发布日期:2010-07-25
  • 通讯作者: 陈煜森

Association of 5-59A/G Polymorphism in Intron Region of Htra2 Gene with Parkinson's Disease

ZHAO Xi-yao, CHEN Yu-sen, HE Fang-mei, et al.   

  1. Department of Neurology，the Affileated Hospital of Guangdong Medical College, Zhanjiang 524001，Guangdong, China
  • Received:2010-05-20 Revised:1900-01-01 Published:2010-07-25 Online:2010-07-25

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被引次数

2

摘要： 目的探讨粤西地区汉族人群中Htra2（又被称作Omi）基因内含子5-59A/G位点(rs2241027)的单核苷酸多态性（SNP）与帕金森病（PD）的相关性。方法采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术，检测56例PD患者和109例健康人的Htra2基因内含子5-59A/G位点多态性的基因型。结果病例组A等位基因频率(46.4%)倾向高于对照组（36.7%）（P=0.073）；AA基因型频率（21.4%）亦倾向高于对照组（11.0%）（P=0.072）。经性别分层分析发现，男性AA基因型频率（25.7%）高于对照组（10.3%）(P=0.041)；病例组A等位基因频率（48.6%）倾向高于对照组（34.6%）(P=0.051)。结论5-59A/G位点等位基因A和AA基因型均可能增加PD的发病风险，特别是男性。

关键词: Htra2基因, 单核苷酸多态性, 帕金森病

Abstract: ObjectiveTo evaluate the association between the single-nucleotide polymorphism (SNP) of the 5-59A/G (rs2241027) of Htra2 gene and Parkinson's disease in Han population of the western GuangDong province. MethodsThe restriction fragment length polymorphism (PCR-RFLP) was used to determine the 5-59A/G polymorphism in the intron region of Htra2 gene in the case group (n=56) and healthy control group (n=109). ResultsA allele frequency of 5-59 A/G in cases (46.4%) was trended to more than that in controls (36.7%) (P=0.073), as well as the AA genotyping frequency (21.4% vs 11.0%, P=0.072). For the male, the frequency of AA genotype was significantly more in cases (25.7%) than that in controls (10.3%） (P=0.041), and the frequency of A allele was trended to more in cases (48.6%) than in controls (34.6%) (P=0.051). ConclusionA allele and AA genotype of the 5-59A/G (rs2241027) of Htra2 gene may increase the risk of suffering from Parkinson's disease, especially for males.

Key words: Htra2 gene, single-nucleotide polymorphism, Parkinson's disease