Association study of semaphorin 5A

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• 作者：Haixia Ding ; Feng Wang ; Xinsheng Ding ; Xinjian Song ; Xiaowei Lu ; Kezhong Zhang ; Hang Xiao ; Min Ye ; Jiechun Chen ; Qingshan Zhang
• 关键词：Parkinson's disease ; Semaphorin 5A ; Single nucleotide polymorphism ; Case control study
• 刊名：Brain Research
• 出版年：2008
• 出版时间：15 December 2008
• 年：2008
• 卷：1245
• 期：Complete
• 页码：126-129
• 全文大小：160 K

文摘

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.