Lv Zhanyun, Tian Wenjing, Ma Qianqian, Hao Yanlei, Yang Yan
a Department of Neurology , Affiliated Hospital of Jining Medical University , Jining , People's Republic of China.
Int J Neurosci. 2017 Dec;127(12):1154-1160. doi: 10.1080/00207454.2017.1332601. Epub 2017 Jun 1.
The four previously reported Parkinson's disease (PD)-related single-nucleotide polymorphisms (SNPs) - rs1775143, rs823114, rs2071746 and rs62063857 - have rarely been studied in Chinese Han populations. To examine the association between these SNPs and PD, we conducted a case-control study of 158 patients with PD and 210 controls. All participants were Chinese Han from Northern China. With covariate adjustment for clinical characteristics, logistic regression analysis revealed no differences in genotype or allele frequencies for the four SNPs. Stratified by age of disease onset, sex, smoking status, duration of disease, baseline UPDRS, Hoehn-Yahr Stage, PD subtypes, scores of Hamilton anxiety scale, Hamilton depression scale and activity of daily living, all of the p values did not remain significant after Bonferroni correction. However, the haplotype rs1775143T-rs823114G-rs2071746T-rs62063857A was associated with increased risk of developing PD (p = 0.003, OR = 456.88, 95% CI: 27.40-7619.75) in our case-control sample set. The haplotype rs1775143T-rs823114G-rs2071746T was also associated with increased risk of developing PD (p = 0.003, OR = 338.43, 95% CI: 20.68-5538.27). Although the haplotype rs1775143T-rs823114G-rs62063857A was associated with increased risk of PD (p = 0.03), the 95% CI was 0.993-22.469. Our data demonstrate that although specific SNPs were not related with PD patients, certain haplotypes were associated with increased risk for PD in the Chinese Han population. These results provide further evidence that the etiology of PD is multifactorial, although the underling mechanism needs further study.
此前报道的4个与帕金森病(PD)相关的单核苷酸多态性(SNP)——rs1775143、rs823114、rs2071746和rs62063857——在中国汉族人群中鲜有研究。为了检验这些SNP与PD之间的关联,我们对158例PD患者和210名对照进行了一项病例对照研究。所有参与者均为来自中国北方的汉族人。经对临床特征进行协变量调整后,逻辑回归分析显示这4个SNP的基因型或等位基因频率无差异。按疾病发病年龄、性别、吸烟状况、病程、基线统一帕金森病评定量表(UPDRS)、霍伊恩-亚尔分级(Hoehn-Yahr Stage)、PD亚型、汉密尔顿焦虑量表评分、汉密尔顿抑郁量表评分及日常生活活动能力进行分层后,经邦费罗尼校正,所有p值均不再显著。然而,在我们的病例对照样本集中,单倍型rs1775143T-rs823114G-rs2071746T-rs62063857A与患PD风险增加相关(p = 0.003,比值比[OR]=456.88,95%置信区间[CI]:27.40 - 7619.75)。单倍型rs1775143T-rs823114G-rs2071746T也与患PD风险增加相关(p = 0.003,OR = 338.43,95% CI:20.68 - 5538.27)。尽管单倍型rs1775143T-rs823114G-rs62063857A与PD风险增加相关(p = 0.03),但其95% CI为0.993 - 22.469。我们的数据表明,虽然特定的SNP与PD患者无关,但某些单倍型与中国汉族人群患PD风险增加相关。这些结果进一步证明PD的病因是多因素的,尽管其潜在机制有待进一步研究。