SNCA基因内含子区多态性rs3857059与中国散发性帕金森病的关联研究

摘要

ABSTRACT Aim To clarify the relationship between single nucleotide polymorphisms ( SNPs ) of SNCA gene( rs3857059) and the risk and clinical systems of sporadic Parkinson’s disease( PD) in Chinese population. Methods The relationship between SNPs of SNCA gene( rs3857059) and the risk and clinical systems of PD was investigated by the case-control study in 171 PD patients and 197 healthy controls from Jiangsu province. Results SNCA rs3857059 locus G allele frequency in PD group was significantly higher than the control group( OR=1.49,95% CI:1.11-2.00, P=0.008) . Carrying the GG genotype increases the risk of PD ( OR =2.17, 95% CI: 1.18-4.00, P =0.013). Male GG genotype PD patients are more susceptible than female patients, while SNP rs3857059 having no relationship with the clinical systems. Conclusion SNP rs3857059 of SNCA gene was associated with the risk of sporadic PD in China.%目的 探究SNCA基因rs3857059位点的单核苷酸多态性( SNPs)与中国人群散发性帕金森病( PD)发病风险及临床症状的关联.方法 采用病例-对照研究,收集南京地区PD患者171例为PD组;另选择健康者197例为对照组.应用基质辅助激光解吸附电离飞行时间质谱(MALDI-TOF-MS)技术检测基因SNPs.结果 PD组SNCA基因rs3857059位点G等位基因频率显著高于对照组(OR=1.49,95% CI:1.11~2.00,P=0.008),携带GG基因型增加PD的发病风险(OR=2.17,95% CI:1.18~4.00,P=0.013),男性GG型PD患者易感性高于女性,但与临床症状无关联.结论SNCA基因rs3857059位点的SNPs与中国人群散发性PD易感性有关.