Huo Zhixin, Luo Xiaoguang, Zhan Xiaoni, Chu Qiaohong, Xu Qin, Yao Jun, Pang Hao
Department of Forensic Genetics and Biology, China Medical University, Shenyang North New Area, Shenyang, P.R., China.
Department of Neurology, 1st Affiliated Hospital of China Medical University, Shenyang, P.R., China.
PLoS One. 2017 Sep 5;12(9):e0184269. doi: 10.1371/journal.pone.0184269. eCollection 2017.
The causal mutations and genetic polymorphisms associated with susceptibility to Parkinson's disease (PD) have been extensively described. To explore the potential contribution of insertion (I)/deletion (D) polymorphisms (indels) to the risk of PD in a Chinese population, we performed genetic analyses of indel loci in ACE, DJ-1, and GIGYF2 genes. Genomic DNA was extracted from venous blood of 348 PD patients and 325 age- and sex-matched controls without neurodegenerative disease. Genotyping of the indel loci was performed by fragment length analysis after PCR and DNA sequencing. Our results showed a statistically significant association for both allele X (alleles without 5) vs. 5 (odds ratio = 1.378, 95% confidence interval = 1.112-1.708, P = 0.003) and genotype 5/X+X/X vs. 5/5 (odds ratio = 1.681, 95% confidence interval = 1.174-2.407, P = 0.004) in the GIGYF2 locus; however, no significant differences were detected for the ACE and DJ-1 indels. After stratification by gender, no significant differences were observed in any indels. These results indicate that the GIGYF2 indel may be associated with increased risk of PD in northern China.
与帕金森病（PD）易感性相关的因果突变和基因多态性已被广泛描述。为了探究插入（I）/缺失（D）多态性（插入缺失）对中国人群患PD风险的潜在影响，我们对ACE、DJ - 1和GIGYF2基因中的插入缺失位点进行了基因分析。从348例PD患者以及325例年龄和性别匹配的无神经退行性疾病对照者的静脉血中提取基因组DNA。通过PCR后的片段长度分析和DNA测序对插入缺失位点进行基因分型。我们的结果显示，在GIGYF2位点，等位基因X（无5的等位基因）与5相比（优势比 = 1.378，95%置信区间 = 1.112 - 1.708，P = 0.003）以及基因型5/X + X/X与5/5相比（优势比 = 1.681，95%置信区间 = 1.174 - 2.407，P = 0.004）均存在统计学显著关联；然而，ACE和DJ - 1插入缺失未检测到显著差异。按性别分层后，任何插入缺失均未观察到显著差异。这些结果表明，GIGYF2插入缺失可能与中国北方人群患PD的风险增加有关。
