广西壮族人群散发性帕金森病PARK2和LRRK2基因的多态性

The polymorphism of PARK2 and LRRK2 gene for Zhuang patients with sporadic Parkinson's disease in Guangxi area

目的探讨帕金森病蛋白(PARK)2和富亮氨酸重复激酶(LRRK)2基因5个位点的单核苷酸多态性(SNP)与广西壮族人群散发性帕金森病(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〔男59例,女53例,年龄(64.29±12.93)岁〕壮族散发性PD患者PARK2基因的rs1801582(V380L)、rs45530340(L63V)及LRRK2基因的rs34778348(G2385R)、rs1491942(N511K)、rs7133914(R1398H)位点进行基因分型,并与156例〔男84例,女72例,年龄(62.85±11.62)岁〕健康壮族老年人比较,分析这些变异与PD的相关性。结果SNP rs45530340 T等位基因明显增加PD的风险(OR=2.252,95%CI:1.186~3.517,P=0.009);不管是早发、晚发或总体上,PD组的CT杂合基因型频率及T等位基因频率均明显高于对照组的相应亚组(P<0.01~0.05),而PD组内的早发及晚发亚组在基因型频率及等位基因频率上无明显差别(P>0.05);SNP 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3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PARK2 rs45530340及LRRK2 rs34778348与广西地区壮族散发性PD的遗传易感性有关。

Objective To look at the potential relationship between the polymorphism of PARK2 and LRRK2 gene and sporadic Par-kinson′s disease ( PD) in Guangxi Zhuang population.Methods PCR-RFLP technique was employed to genotype the single nucleotide poly-morphism (SNP) of PARK2 rs1801582(V380L) and rs45530340(L63V) and LRRK2 rs34778348(G2385R),rs1491942(N511K) and rs7133914(R1398H) for 112 sporadic PD patients 〔59 men,53 women,aged (64.29 ±12.93) years〕 and 156 controls 〔84 men,72 women,aged(62.85 ±11.62)years〕.The association between these SNPs and PD were evaluated.Results SNP rs45530340 T allele sig-nificantly increased the risk of PD (OR=2.252,95%CI:1.186~3.517,P=0.009).The frequency of heterozygous CT genotype and T al-lele were higher in PD group than those in controls,regardless in the early-onset,late-onset or the overall population tested (P<0.01 ~0.05),while within the PD group,no significantly different genotypic and allelic frequencies were noted between PD and control groups (P>0.05);the A allele of SNP rs34778348 also increased the PD risk (OR=1.632,95%CI:1.238~2.346,P=0.029).No difference was seen on the genotypic and allelic frequency on the remaining 3 SNPs (P=0.445 ~0.894).Conclusions PARK2 rs45530340 and LRRK2 rs34778348 might serve as one of the genetic susceptibility in sporadic Zhuang PD patients in Guangxi region.