目的:遗传和环境因素在帕金森病(PD)的发病机制中起着重要作用。最近,在欧洲人群的全基因组关联研究(GWAS)的荟萃分析中,发现了17个新的PD风险位点。为了澄清这些风险位点是否与台湾人群的PD相关,我们进行了一项病例对照研究,包括14个新的风险位点,并分析了基因分布和等位基因频率.
方法:本研究共招募了2798名受试者。使用MassARRAY对672例PD患者和609例健康对照进行基因分型,同时还检查了来自台湾生物库的另外1517名健康对照的数据。
结果:我们的结果表明,ITPKBrs4653767(OR(95%CI)=0.832(0.699,0.990),p=0.038),IL1R2rs34043159(OR(95%CI)=0.812(0.665,0.992),p=0.041)和COQ7rs11343(OR(95%CI)=0.304(0.180,0.512),p<0.001)与PD相关。在等位基因分析中,IL1R2rs34043159的T等位基因(OR(95%CI)=0.873(0.772,0.987),p=0.03)和COQ7rs11343的T等位基因(OR(95%CI)=0.098(0.040,0.238),p<0.001)显示PD的风险较低。Bonferroni校正后,只有显性模型和COQ7rs11343的T等位基因显示出显着降低PD的风险。
结论:这项研究表明,ITPKB,IL1R2和COQ7对台湾PD的风险有影响。
OBJECTIVE: Genetic and environmental factors play significant roles in the pathogenesis of Parkinson\'s disease (PD). Recently, 17 novel risk loci of PD were identified in a meta-analysis of genome-wide association study (GWAS) in the European populations. In order to clarify if these risk loci are associated with PD in Taiwanese population, we conducted a case-control study including 14 of the novel risk loci and analyzed the genetic distribution and allele frequency.
METHODS: A total of 2798 subjects were recruited in this study. Genotyping was performed in 672 PD patients and 609 healthy controls by using Mass ARRAY, and data of another 1517 healthy controls from Taiwan Biobank were also examined.
RESULTS: Our results show that the dominant models of ITPKB rs4653767 (OR (95% CI) = 0.832 (0.699, 0.990), p = 0.038), IL1R2 rs34043159 (OR (95% CI) = 0.812 (0.665, 0.992), p = 0.041) and
COQ7 rs11343 (OR (95% CI) = 0.304 (0.180, 0.512), p < 0.001) were associated with PD. In allelic analysis, the T allele of IL1R2 rs34043159 (OR (95% CI) = 0.873 (0.772, 0.987), p = 0.03) and T allele of
COQ7 rs11343 (OR (95% CI) = 0.098 (0.040, 0.238), p < 0.001) showed lower risk of PD. After Bonferroni correction, only dominant model and T allele of
COQ7 rs11343 showed significantly reduced the risk of PD.
CONCLUSIONS: This study suggests that ITPKB, IL1R2 and
COQ7 have influence on the risk of PD in Taiwan.