Omi／HtrA2基因启动子-958C／G多态性与帕金森病的相关性研究

Correlative Study of Omi/HtrA2 gene promoter -958C/G polymorphism in Parkinson＇ s disease

目的探讨Omi／HtrA2基因启动子-958C／G单核苷酸多态性（SNP）与帕金森病（PD）的关系。方法采用病例一对照研究，选择56例PD患者（病例组）和109例健康体检者（对照组）为对象，应用聚合酶链反应一限制性酶切片段长度多态性分析方法（PCR—RFLP）检测Omi／HtrA2基因启动子958C／G单核苷酸多态性，并分析其基因型及等位基因频率在正常人群及PD患者中的分布特点。结果Omi／HtrA2基因启动子SNP-958C／G在病例组中C等位基因频率为75．0％，对照组为84．4％，两组比较差异有统计学意义（P〈0．05）；病例组CC基因型为53．6％，对照组为69．7％，两组比较差异有统计学意义（P〈0．05）。结论Omi／HtrA2基因启动子SNP一958C／G与PD相关，C等位基因及CC基因型对PD可能是保护性因素。

Objective To investigate the frequency distribution of single-nucleotide polymorphisms（SNP） of Omi/HtrA2 gene promoter -958C/G, and the relationship between these polymorphism and Parkinson＇ s disease （PD）. Methods By using a case-control method, 56 PD patients （ the case group） and 109 healthy controls（ the control group） were selected in the study. The SNP of -958C/G of Omi/HtrA2 gene was identified by the polymerase chain reaction（PCR） and restriction fragment length polymorphism（RFLP） ,and genotype and allele frequency distributions in normal people and PD patients were analyzed. Results The C allele frequency of Omi/HtrA2 gene SNP-958C/G was 75.0% in the case group, and which in the control group was 84.4%. The difference was significant（ P 〈 0.05 ） ;In PD, CC genotyping frequencies was 53.6%, and that in controls was 69.7%. The difference was also significant （P 〈 0.05）. Conclusion Omi/HtrA2 gene SNP-958C/G was associated with PD, C allele and CC genotype might be the protective factor of PD patients.