中国汉族人群中LRRK2、SNCA和ITGA8基因变异与散发性帕金森病易感性的分析
Analysis of LRRK2, SNCA, and ITGA8 Gene Variants with Sporadic Parkinson's Disease Susceptibility in Chinese Han Population.
作者信息
Fang Jie, Yi Kehui, Guo Mingwei, An Xingkai, Qu Hongli, Lin Qing, Bi Min, Ma Qilin
机构信息
Department of Neurology, The First Affiliated Hospital of Xiamen University, Xiamen, China.
The First Clinical Medical College of Fujian Medical University, Fuzhou, China.
出版信息
Parkinsons Dis. 2016;2016:3474751. doi: 10.1155/2016/3474751. Epub 2016 Sep 7.
Background. Parkinson's disease (PD) is an age-related neurodegenerative disease affected by multiple genetic and environmental factors. We performed a case-control study on candidate gene to scrutinize whether genetic variants in LRRK2, SNCA, and ITGA8 genes could be associated with sporadic PD in Chinese Han population. Methods. Five single-nucleotide polymorphisms (SNPs) of LRRK2 (rs1491942), SNCA (rs2301134, rs2301135, and rs356221), and ITGA8 (rs7077361) were selected and genotyped among 583 unrelated PD patients and 558 healthy controls. Results. Rs1491942 of LRRK2 gene had a significantly higher genotype frequency (P = 3.543E - 09) and allelic G/C frequencies (P = 2.601E - 10) in PD patients than controls. Rs2301135 of SNCA gene also showed an obvious difference in genotype frequency (P = 4.394E - 07) and allelic G/C frequencies (P = 9.116E - 13) between PD patients and controls. SNPs rs2301134 and rs356221 of SNCA gene and rs7077361 of ITGA8 gene lacked the significant association with the susceptibility of PD in Chinese Han population. Conclusions. Our study firstly expresses that rs1491942 of LRRK2 and rs2301135 of SNCA gene are substantially associated with sporadic Parkinson's disease in Chinese Han population.
背景。帕金森病（PD）是一种与年龄相关的神经退行性疾病，受多种遗传和环境因素影响。我们对候选基因进行了一项病例对照研究，以审查富含亮氨酸重复激酶2（LRRK2）、α-突触核蛋白（SNCA）和整合素α8（ITGA8）基因中的遗传变异是否可能与中国汉族人群的散发性PD相关。方法。选择LRRK2的5个单核苷酸多态性（SNP）（rs1491942）、SNCA的（rs2301134、rs2301135和rs356221）以及ITGA8的（rs7077361），并在583例无亲缘关系的PD患者和558例健康对照中进行基因分型。结果。与对照组相比，PD患者中LRRK2基因的rs1491942具有显著更高的基因型频率（P = 3.543×10⁻⁹）和等位基因G/C频率（P = 2.601×10⁻¹⁰）。SNCA基因的rs2301135在PD患者和对照组之间的基因型频率（P = 4.394×10⁻⁷）和等位基因G/C频率（P = 9.116×10⁻¹³）也显示出明显差异。SNCA基因的SNP rs2301134和rs356221以及ITGA8基因的rs7077361与中国汉族人群PD易感性缺乏显著关联。结论。我们的研究首次表明，LRRK2的rs1491942和SNCA基因的rs2301135与中国汉族人群的散发性帕金森病显著相关。
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