Variants in the 39 End of SLC6A3 in Northwest Han Population with Parkinson’s
Variants in the 39 End of SLC6A3 in Northwest Han Population with Parkinson’s
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西北汉族帕金森患者SLC6A3 39端变异
DOI：
10.1155/2019/6452471
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发表时间：
2019
期刊：
影响因子：
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通讯作者：
Yulin He
中科院分区：
文献类型：
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作者：
Peiye Chang;Yongwang Fu;Ping Zhao;Chunmei Wang;Mingfang Jiang;Rui Li;Yulin He
帕金森病(Parkinson‘s Disease，PD)是神经科最常见的神经退行性疾病之一。其发病机制可能与多因素和遗传因素有关。最近，有报道称SLC6A3基因变异导致帕金森病。然而，SLC6A3基因3‘端在帕金森病中的作用在不同种族中的研究较少。为探讨SLC6A3基因3‘端SNP在帕金森病发病中的作用，对360例帕金森病患者和392例中国地区汉族正常对照的SLC6A3基因3’端17个SNP位点进行了分析。仅在rs40184位点上，PD组和对照组之间的基因类型和等位基因频率存在显著差异(P= 分别为0.013和0.004；优势比2.529，95%可信区间1.325~4.827)。其余16个SNP位点的基因型和等位基因频率在帕金森病组和对照组之间无明显差异。选择rs2550936、rs3776510和rs429699构建单倍型，5种单倍型在帕金森病组和对照组之间的频率无显著差异。提示rs40184A等位基因SLC6A3变异可能增加西北汉族人群患帕金森病的风险，可能是帕金森病的一个生物标志物。
Parkinson’s disease (PD) is one of the most common neurodegenerative disorders in neurology. It is possible that multifactorial and genetic factors are related to its pathogenesis. Recently, there have been reports of SLC6A3 genetic variants leading to PD. However, the role of 3′ end of SLC6A3 in PD is less studied in different ethnic groups. To explore the roles of 3′ end of SLC6A3 in PD development, 17 SNP sites in 3′ end of SLC6A3 were analyzed in 360 PD patients and 392 normal controls of Han population residing in northwest of China. The significant difference of gene type and allele frequencies between the PD and control groups was detected only in rs40184 (P= 0.013 and 0.004, respectively; odds ratio 2.529, 95% confidence interval 1.325–4.827). The genotype and allele frequencies of the other 16 SNP sites were not found to be different between the PD group and the control group. rs2550936, rs3776510, and rs429699 were selected to construct the haplotypes; no significant difference was found in a frequency of 5 haplotypes between the PD group and the control group. These results suggest that the SLC6A3 variant in rs40184 A allele may increase the risk of PD in northwest Han population and may be a biomarker of PD.