Short communication: genetic variations of SLC2A9 in relation to Parkinson's disease.
Short communication: genetic variations of SLC2A9 in relation to Parkinson's disease.
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DOI：
10.1186/2047-9158-2-5
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发表时间：
2013-02-19
影响因子：
12.6
通讯作者：
Chen H
中科院分区：
文献类型：
--
作者：
Gao J;Xu H;Huang X;Chen H
流行病学研究表明，较高的血浆尿酸盐与帕金森病（PD）的风险较低和疾病进展较慢相关。最近的全基因组关联研究（GWAS）一致表明，溶质载体家族2成员9基因（SLC 2A 9）中的几个单核苷酸多态性（SNP）与血浆尿酸盐浓度和痛风风险相关。我们进行了一项病例对照研究，以检查SLC 2A 9基因的12个标签SNPs与PD之间的788例和911名欧洲血统的对照。优势比（OR）和95%置信区间（CI）来自logistic回归模型，调整年龄，性别，吸烟和咖啡因摄入量。这些SNPs均处于连锁不平衡状态（R2 > 0.7）。这些事件均与PD风险无关。然而，在女性中，有一种观点认为，一个SNP（rs7442295）的次要等位基因的存在与PD风险的小幅增加有关[OR（95%CI）= 1.48（1.01-2.16）]。这项研究为SLC 2A 9的遗传变异和PD风险提供了很少的支持。
Epidemiological studies showed that higher plasma urate was associated with lower risk for Parkinson’s disease (PD) and slower disease progression. Recent genome-wide association studies (GWAS) consistently showed that several single nucleotide polymorphisms (SNPs) in the solute carrier family 2 member 9 gene (SLC2A9 ) were associated with plasma urate concentration and the risk of gout. We conducted a case–control study to examine twelve tag SNPs of the SLC2A9 gene in relation to PD among 788 cases and 911 controls of European ancestry. Odds ratios (OR) and 95% confidence intervals (CI) were derived from logistic regression models, adjusting for age, sex, smoking and caffeine consumption. These SNPs were all in linkage disequilibrium (R2 > 0.7). None of them were associated with PD risk. Among women, however, there was a suggestion that the presence of the minor allele of one SNP (rs7442295) was related to a small increase in PD risk [OR (95% CI) = 1.48 (1.01-2.16)]. This study provides little support for genetic variations of SLC2A9 and PD risk.