摘要
目的探讨PARK16基因单核苷酸多态性（SNP）与帕金森病（PD）易患性的关系，分析其SNP的基因型和等位基因频率及不同基因型的优势比（OR）和其临床特征。方法采用病例一对照研究选择PD患者226例和362名健康对照，利用TaqMan荧光定量PCR方法检测中国汉族人群中PARK16基因Rs947211和Rs823128基因多态性，并对不同基因型临床资料进行分析。结果PARK16基因的多态性位点Rs947211在PD组基因型频率为：GG34．1％（77／226）、AG46．0％（104／226）、AA19．9％（45／226），对照组分别为23．8％（86／362）、53．0％（192／362）、23．2％（84／362），2组基因型频率差异具有统计学意义（以野生型GG为参考，AG：OR=0．57，95％CI0．38—0．85，P=0．006；AA：OR=0．55，95％CI0．34—0．85，P=0．015）。以PD组野生型GG为参照，暴露于A等位基因型（AA＋AG）的OR=0．56，95％CI0．38～0．82，P=0．003。晚发型PD（LOPD）Rs947211的基因型频率与对照组比较差异亦有统计学意义（AG：OR=0．46，95％CI0．27～0．78，P=0．004；AA：OR=0．35，95％CI0．18—0．68，P=0．002）。PD组3种基因型在临床表现上差异没有统计学意义。Rs823128在PD组基因型频率分布与对照组差异无统计学意义（以野生型AA为参照，AG：OR=1．12，95％CI0．75—1．68，P=0．568；GG：OR=0．99，95％CI0．35—2．76，P=0．994）。结论中国汉族人群中PARK16基因与PD易患性相关。
Objective To investigate the association between PARK16 gene polymorphism and Parkinson＇ s disease （PD） susceptibility in Chinese Han population, and to analyze its single-nucleotide polymorphism （SNP） genotypes, frequencies and odds ratios （OR） of different genotypes. Methods The association between two SNP loci in PARK16 gene （Rs947211, Rs823128 ） and PD susceptibility was investigated by TaqMan quantitative polymerase chain reaction （PCR） in 226 PD patients and 362 healthy controls. Allele and genotype frequencies were calculated by the Chi-square test, and the clinical data were also analyzed. Results Three genotypes of Rs947211 （ GG, AG and AA） account for 34. 1% （77/226）, 46.0% （104/226）, 19. 9% （45/226） in the PD group, and 23.8% （ 86/362）, 53.0% （ 192/362）, 23.2% （84/362） in the control group, respectively. There was significant difference between two groups （P 〈 0. 05）. Setting the GG genotype as the reference, OR values of AG and AA genotype were 0. 57 （95% CI 0. 38-0. 85,P =0. 006） and 0. 55 （95% CI 0. 34-0. 85,P = 0. 015）, while the OR value for exposure to the A allele （AA ＋AG） was 0. 56 （95% CI0. 38-0. 82, P=0. 003）. Genotypes of late-onset PD were also significantly different from the controls（ OR value of AG = 0.46,95% CI 0. 27-0. 78 ,P = 0. 004;OR value of AA =0. 35,95% CI 0. 18-0. 68,P =0. 002）. And there was no difference in clinical features among the 3 genotypes. The frequency of Rs823128, another locus, in PD group was not significantly different from the control group（AA genotype as the reference,OR value of AG was 1.12, 95% CI 0. 75- 1.68, P = 0.568; OR value of GG was 0.99, 95% CI 0.35-2.76, P = 0.994）. Conclusion Polymorphism of PARK16 locus Rs947211 is associated with PD patients in Chinese Han population.
出处
《中华神经科杂志》
CAS
CSCD
北大核心
2011年第5期343-346,共4页
Chinese Journal of Neurology
基金
江苏省中医药科技项目资助项目（LB09088）
南京市科技计划项目资助项目（200905016）
