基因多态性与中国闽南地区散发性帕金森病的相关性研究

摘要

目的：研究 SNCA（rs356221）、ITGA8（rs7077361）及 LRRK2（rs1491942）基因单核苷酸多态性（SNP）与中国闽南地区汉族人群散发性帕金森病（Sporadic Parkinson’s Disease ，SPD）的相关性。方法收集2011‐08－2013‐12厦门市第一医院神经内科门诊及住院确诊、临床资料完整、明确无血缘关系的 SPD 患者168例，健康对照组177例，运用 SNaPshot 技术对目标位点进行基因分型，采用χ2检验和 Fisher 确切概率法统计分析各 SNP 数据。结果（1）SPD 组与对照组 LRRK2基因 rs1491942基因型频率和等位基因频率差异有统计学意义（P＝0.008／0.007），（CC ＋ CG）与 GG 相比差异有统计学意义（P＝0.003）；在各亚组中，LOPD（晚发型散发性帕金森病）组／女性组与对照组相比，差异均有统计学意义（P ＝0.006／0.001）。（2） SNSA（rs356221）、ITGA（rs7077361）基因型频率和等位基因频率差异均无统计学意义（P ＞0.05）。结论（1）LRRK2（rs1491942）基因单核苷酸多态性与中国闽南地区汉族女性晚发型散发性帕金森病发病相关，等位基因 C 可能是其发病的危险因素。（2） SNSA（rs356221）、ITGA（rs7077361）基因单核苷酸多态性可能与中国闽南地区散发性帕金森病发病无关。%Objective To research the correlation between the SNP of SNCA (rs356221) ,ITGA8(rs7077361) ,LRRK2 (rs1491942) and sporadic PD in the Minnan region of China. Methods One hundred and sixty eight inpatients and outpatients with complete clinical information of PD and without family history of PD ,and one hundred and seventy seven healthy controls were respectively recruited at department of neurology and physical examination center in the first hospital of Xiamen from Au‐gust 2011 to December 2013. The target gene loci was genotyped by the SNaPshot technique ,and the SNP data were statisti‐cally analyzed by Chi‐square test and Fisher exact probability method. Results (1 ) The genotype and allele frequencies of rs1491942 in LRRK2 showed statistically great difference between SPD group and control group (P= 0.008/0.007) ,and there was statistically great significance between (CC + CG) and GG (P= 0.003) ;According to age stratification and sex stratifica‐tion ,just LOPD and women's group showed statistically great difference compared with control group (P= 0.006/0.001). (2) The genotype and allele frequencies of SNSA(rs356221)and ITGA(rs7077361)showed no statistically great difference between SPD group and control group (P= 1.000).Conclusion (1)The SNP of LRRK2(rs1491942) may be related to late sporadic PD in women patients ,and allele rs1491942‐C may be a risk factor for Han Chinese in Minnan region. (2) The SNP of SNCA (rs356221) and ITGA8(rs7077361) may have nothing to do with SPD in the same area.