论文部分内容阅读
目的探讨LRRK2基因3个位点的单核苷酸多态性(SNP)与壮族人群帕金森病(PD)的相关性。方法使用聚合酶链反应-限制性片段长度多态(PCR-RFLP)方法对112例壮族PD患者LRRK2基因的rs34778348(G2385R),rs1491942(N511K),rs7133914(R1398H)位点进行基因分型,并与156例健康壮族老年人比较,分析这些变异与PD的相关性。结果 rs34778348 A等位基因携带者罹患PD的风险也明显升高(OR=1.632,95%CI:1.238~2.346,P=0.029),总体上PD组等位基因A及纯合突变型AA的频率明显高于对照组(P<0.05)。另2个SNP的基因型和等位基因频率分布在两组间无差异(P=0.445~0.894)。结论 LRRK2 rs34778348与壮族人群PD的遗传易感性有关。
Objective To investigate the association of single nucleotide polymorphism (SNP) at three loci of LRRK2 with Parkinson’s disease (PD) in Zhuang population. Methods The genotypes of rs34778348 (G2385R), rs1491942 (N511K) and rs7133914 (R1398H) of LRRK2 gene in 112 PD patients were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) Compared with 156 healthy Zhuang elders, the correlation between these changes and PD was analyzed. Results The risk of PD in rs34778348 A allele was also significantly increased (OR = 1.632, 95% CI: 1.238-2.346, P = 0.029). Overall, the frequency of allele A and homozygous mutant AA in PD group Significantly higher than the control group (P <0.05). The other two SNPs had no difference in genotype and allele frequencies between the two groups (P = 0.445-0.894). Conclusion LRRK2 rs34778348 is associated with the genetic predisposition of PD in Zhuang.