Genetic analysis of indel markers in three loci associated with Parkinson's disease.
Genetic analysis of indel markers in three loci associated with Parkinson's disease.
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与帕金森病相关的三个位点的插入缺失标记的遗传分析
DOI：
10.1371/journal.pone.0184269
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发表时间：
2017
期刊：
影响因子：
3.7
通讯作者：
Pang H
中科院分区：
文献类型：
--
作者：
Huo Z;Luo X;Zhan X;Chu Q;Xu Q;Yao J;Pang H
与帕金森病（PD）易感性相关的致病突变和遗传多态性已被广泛描述。为了探讨插入（I）/缺失（D）多态性（indel）对中国人群PD风险的潜在贡献，我们对ACE、DJ-1和GIGYF 2基因的indel位点进行了遗传分析。从348名PD患者和325名年龄和性别匹配的无神经退行性疾病的对照组的静脉血中提取基因组DNA。通过PCR和DNA测序后的片段长度分析进行indel位点的基因分型。我们的研究结果表明，两个等位基因X（不含5的等位基因）vs. 5（比值比= 1.378，95%置信区间= 1.112-1.708，P = 0.003），基因型5/X+X/X与5/5（比值比= 1.681，95%置信区间= 1.174-2.407，P = 0.004）;然而，ACE和DJ-1 indel没有检测到显著差异。按性别分层后，在任何indel中均未观察到显著差异。这些结果表明，GIGYF 2插入缺失可能与中国北方PD风险增加有关。
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.
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