·论著·

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

1)福建医科大学第一临床医学院福州3500012)厦门大学附属第一医院厦门361000

【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。

【关键词】散发性帕金森病；单核苷酸多态性；SNCA；ITGA；LRRK2

基金项目：福建省自然科学基金重点项目(2012D062)

通讯作者方杰1) 郭名伟1)陈帅1)林青2)马琪林1,2)()

【中图分类号】R742.5

The associated research between gene polymorphism and sporadic Parkinson's disease in the Minnan region of China

FangJie＊,GuoMingwei,ChenShuai,LinQing,MaQilin

＊TheFirstClinicalMedicalCollegeofFujianMedicalUniversity,Fuzhou35001,China

Abstract【】 ObjectiveTo research the correlation between the SNP of SNCA(rs356221), ITGA8(rs7077361), LRRK2(rs1491942) and sporadic PD in the Minnan region of China. MethodsOne 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 August 2011 to December 2013. The target gene loci was genotyped by the SNaPshot technique, and the SNP data were statistically 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 stratification, 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.

【Key words】Sporadic Parkinson's disease; Single Nucleotide Polymorphisms; SNCA; ITGA; LRRK2

帕金森病(PD)是一种常见于中老年人、发病率仅次于阿尔茨海默病的第二大神经变性疾病。临床上以静止性震颤、运动迟缓、肌强直和姿势步态障碍为主要特征。主要病理特征是黑质致密部多巴胺能神经元大量变性缺失和神经细胞质内路易小体(Lewy body, LB)形成[1]。其……