Ding Haixia, Wang Feng, Ding Xinsheng, Song Xinjian, Lu Xiaowei, Zhang Kezhong, Xiao Hang, Ye Min, Chen Jiechun, Zhang Qingshan
Department of Neurology, the First Affiliated Hospital of Nanjing Medical University, No. 300, Guangzhou Street, Nanjing, Jiangsu Province 210029, P.R. China.
Brain Res. 2008 Dec 15;1245:126-9. doi: 10.1016/j.brainres.2008.09.080. Epub 2008 Oct 10.
Parkinson's disease (PD) is a common neurodegenerative disorder with genetic risk factors. Semaphorin 5A (SEMA5A) was recognized as a risk factor for PD through high resolution whole genome association study by Maraganore et al. We used polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay to check two single nucleotide polymorphisms (SNPs) within SEMA5A in 340 PD patients and 222 PD free cases of Chinese Han ancestry and tested by gene sequencing. We found that the SEMA5A variant genotype (allele) of rs7702187 and rs3798097 had no association with the risk of PD in our sample. The AC haplotype was associated with a significant increased risk of PD and the AT haplotype showed an associated decreased risk of PD compared with the most common haplotype TC. Our findings suggested that haplotypes of SEMA5A may be involved in PD risk in the Chinese Han population.
帕金森病（PD）是一种具有遗传风险因素的常见神经退行性疾病。通过Maraganore等人的高分辨率全基因组关联研究，信号素5A（SEMA5A）被确认为PD的一个风险因素。我们采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析方法，对340例汉族帕金森病患者和222例无帕金森病的对照个体进行SEMA5A基因两个单核苷酸多态性（SNP）检测，并进行基因测序验证。我们发现，在我们的样本中，rs7702187和rs3798097的SEMA5A变异基因型（等位基因）与帕金森病风险无关。与最常见的TC单倍型相比，AC单倍型与帕金森病风险显著增加相关，而AT单倍型与帕金森病风险降低相关。我们的研究结果表明，SEMA5A单倍型可能与中国汉族人群帕金森病风险有关。
