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Association study of semaphorin 5A with risk of Parkinson's disease in a Chinese Han population.

机译:汉语汉族人口帕金森病风险的血症素5A的缔章研究。

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摘要

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.
机译:帕金森病(PD)是一种常见的神经变性障碍,遗传危险因素。 通过Maraganore等人通过高分辨率全基因组协会研究被认为是PD的危险因素.Maraganore等人。 我们使用聚合酶链反应限制片段长度多态性(PCR-RFLP)测定在340名PD患者中检查SEMA5A中的两个单一核苷酸多态性(SNP),222个PD自由患者的中国汉族血统和基因测序测试。 我们发现RS7702187和RS3798097的Sema5a变体基因型(等位基因)与我们样本中Pd的风险没有关联。 与最常见的单倍型TC相比,AC单倍型与Pd的风险显着增加,并且在单倍型与最常见的单倍型Tc相比,Pd的风险相关。 我们的研究结果表明Sema5a的单倍型可能参与中国汉族人群的PD风险。

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