RAB7L1基因启动子多态性与中国西南地区汉族帕金森病的关联

目的：探讨RAB7L1基因启动子区位点rs1572931的多态性与中国西南地区汉族帕金森病（PD ）的关联。方法收集2010年10月～2014年12月于川北医学院就诊的243例PD患者（PD组）和455名年龄匹配、无PD的健康体检者（对照组），运用限制性片段长度多态性聚合酶链反应（PCR －RFLP）方法进行基因分型，探讨RAB7L1基因 rs1572931位点的单核苷酸多态性（SNP）与中国西南地区汉族PD的关系。结果 rs1572931的 T 等位基因频率在 PD 组和对照组中分别为27．98％和34．18％，差异有统计学意义（ P＝0．019，OR＝0．748，95％ C I＝0．588～0．952）；T T基因型频率在PD组和对照组中分别为4．94％与10．99％，差异有统计学意义（ P＝0．008，OR＝0．421，95％ C I＝0．220～0．806）。结论 RAB7L1基因 rs1572931位点的 T T基因型可能在中国西南汉族人群 PD的发生中起保护作用。

Association between RAB7L1 gene promoter polymorphism and Parkinson disease in Southwestern Chinese Han Population

Objective To discuss the association between rs1572931 polymorphisms in promoter of RAB7L1 gene and Parkinson disease (PD) in Southwestern Chinese Han population .Methods One sin‐gle nucleotide polymorphism (SNP) ,rs1572931 in RAB7L1 gene was genotyped in 243 PD patients and 455 healthy controls by polymerase chain reaction -restriction fragment length polymorphism (PCR-RFLP) method .All controls and PD patients were ethnically and geographically matched .Differences of allele and genotype frequencies distributions between two groups were compared .Results A significantly de‐creased rs1572931 T allele frequency (27 .98% vs 34 .18% ,P=0 .019 ,OR=0 .748 ,95% CI=0.588 -0.952) and TT genotype frequency (4 .94% vs 10 .99% ,P= 0 .008 ,OR= 0 .421 ,95% CI= 0 .220-0.806) were found in PD group compared with control group .Conclusions TT genotype of rs1572931 in RAB7L1 gene may be a protective factor of PD in Southwestern Chinese Han Population .