Dong Hai-rong, Hua Ye, Ding Xin-sheng
Department of Neurology, First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China.
Zhonghua Yi Xue Za Zhi. 2009 Jun 16;89(23):1589-92.
To investigate the relationship of Semaphorin 5A (SEMA5A) and risk of Parkinson's disease (PD).
Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay was used to check two single nucleotide polymorphisms (SNPs) within SEMA5A in 244 PD patients and 174 healthy control subjects of Chinese Han ancestry. And the results were verified by gene sequencing.
The SEMA5A variant genotype (allele) of rs7702187 and rs3798097 had no correlation with the risk of PD in the samples (rs7702187: OR(genotype AT) 0.95, 95% CI 0.61-1.48, OR (genotype AA) = 1.84, 95% CI 0.85-3.99, OR(genotype AT + AA) = 1.21, 95% CI 0.82-1.77, P > 0.05; rs3798097: OR(genotype CT) = 1.06, 95% CI 0.62-1.79, OR(genotype TT) = 0.72, 95% CI 0.10-5.18, OR(genotype CT + T) = 1.01, 95% CI 0.62-1.67, P > 0.05). Comparing with the most common haplotype TC, neither AC haplotype nor TT haplotype showed any correlation with risk of PD (OR = 1.19, 95% CI 0.84-1.69 for AC haplotype P > 0.05; OR = 0.99, 95% CI 0.59-1.70 for TT haplotype, P > 0.05).
SEMA5A is not implicated in PD risk in a Chinese Han population.
研究信号素5A（SEMA5A）与帕金森病（PD）风险的关系。
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析法，检测244例汉族PD患者和174例健康对照者中SEMA5A基因内的两个单核苷酸多态性（SNP）。结果通过基因测序进行验证。
rs7702187和rs3798097的SEMA5A变异基因型（等位基因）与样本中PD的风险无相关性（rs7702187：OR（基因型AT）0.95，95%CI 0.61-1.48，OR（基因型AA）=1.84，95%CI 0.85-3.99，OR（基因型AT+AA）=1.21，95%CI 0.82-1.77，P>0.05；rs3798097：OR（基因型CT）=1.06，95%CI 0.62-1.79，OR（基因型TT）=0.72，95%CI 0.10-5.18，OR（基因型CT+T）=1.01，95%CI 0.62-1.67，P>0.05）。与最常见的单倍型TC相比，AC单倍型和TT单倍型均与PD风险无相关性（AC单倍型的OR=1.19，95%CI 0.84-1.69，P>0.05；TT单倍型的OR=0.99，95%CI 0.59-1.70，P>0.05）。
在汉族人群中，SEMA5A与PD风险无关。
