RIT2和STX1B基因多态性与帕金森病相关。
The RIT2 and STX1B polymorphisms are associated with Parkinson's disease.
作者信息
Wang Jian-Yong, Gong Mei-Ying, Ye Yang-Lie, Ye Jin-Min, Lin Guo-Liang, Zhuang Qing-Qing, Zhang Xiong, Zhu Jian-Hong
机构信息
Department of Geriatrics & Neurology, The Second Affiliated Hospital, Wenzhou Medical University, Wenzhou, Zhejiang 325035, China.
Department of Preventive Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325035, China.
出版信息
Parkinsonism Relat Disord. 2015 Mar;21(3):300-2. doi: 10.1016/j.parkreldis.2014.12.006. Epub 2014 Dec 16.
INTRODUCTION
GWAS meta-analysis identified RIT2 rs12456492 and STX1B rs4889603 as PD susceptible loci. While proteins encoded by the genes, in particular RIT2, may involve in PD pathogenesis, the association of these two variants with PD remains to be further clarified.
METHODS
We enrolled a Chinese cohort comprising 537 PD patients and 517 controls, determined the genotypes of rs12456492 and rs4889603, and analyzed these variants in relation to PD.
RESULTS
Both rs12456492 and rs4889603 were associated with PD susceptibility (P = 0.012 and 0.03, respectively). The G allele of rs12456492 and the A allele of rs4889603 served as risk alleles toward PD. Statistical differences in genotype distribution between the patients and controls were observed both in rs12456492 (marginal, P = 0.042 for GG vs. AG vs. AA) and in rs4889603 (P = 0.021 for AA + AG vs.
GG) CONCLUSION: Our data suggest that the RIT2 and STX1B polymorphisms are associated with PD etiology. The role of RIT2 in PD pathogenesis warrants further mechanistical investigation.
引言
全基因组关联研究（GWAS）的荟萃分析确定RIT2基因的rs12456492位点和STX1B基因的rs4889603位点为帕金森病（PD）的易感位点。虽然这些基因编码的蛋白质，特别是RIT2，可能参与了PD的发病机制，但这两个变异位点与PD的关联仍有待进一步阐明。
方法
我们纳入了一个由537例PD患者和517例对照组成的中国队列，确定了rs12456492和rs4889603的基因型，并分析了这些变异与PD的关系。
结果
rs12456492和rs4889603均与PD易感性相关（P值分别为0.012和0.03）。rs12456492的G等位基因和rs4889603的A等位基因是PD的风险等位基因。在rs12456492（边缘性，GG与AG与AA相比，P = 0.042）和rs4889603（AA + AG与GG相比，P = 0.021）中，患者和对照之间的基因型分布均观察到统计学差异。
结论
我们的数据表明，RIT2和STX1B基因多态性与PD病因相关。RIT2在PD发病机制中的作用值得进一步进行机制研究。
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