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中国北方帕金森病患者中FGF20和TMEM175基因多态性的筛查

Screening of polymorphisms located in the FGF20 and TMEM175 genes in North Chinese Parkinson's disease patients.

作者信息

Jing C C, Luo X G, Cui H G, Li F R, Li P, Jiang E Z, Ren Y, Pang H

机构信息

School of Forensic Medicine, China Medical University, Shenyang, China.

Department of Neurology, First Affiliated Hospital of China Medical University, Shenyang, China.

出版信息

Genet Mol Res. 2015 Oct 29;14(4):13679-87. doi: 10.4238/2015.October.28.30.

Abstract

Genome-wide association studies have reported numerous susceptibility loci for Parkinson's disease (PD). However, there have been few replication studies examining these loci in northern Chinese populations. To evaluate the relationships among 3 polymorphic markers located in the fibroblast growth factor 20 and transmembrane protein 175 genes and the genetic susceptibility to PD in northern Chinese subjects, 2 single nucleotide polymorphisms, and 1 insertion/deletion marker (rs591323 in FGF20; rs6599388 and rs142821586 in transmembrane protein 175 near the G-associated kinase/diacylglycerol kinase theta region) were investigated in 313 PD patients and 318 matched controls. Mismatched multiplex polymerase chain reaction-restriction fragment length polymorphism analysis as well as sequence-specific primer polymerase chain reaction and restriction fragment length polymorphism assays were performed. The genotypic frequency of rs591323 differed significantly between the patient and control groups; however, neither rs6599388 nor rs142821586 was associated with PD. We corrected the Hardy-Weinberg disequilibrium for rs6599388, which was previously reported to be common in 4 Asian descent populations into equilibrium status by simultaneously genotyping rs6599388 and rs142821586. In summary, we found that rs591323 was associated with PD but rs6599388 and rs142821586 were not associated with PD in a northern Chinese population.

摘要

全基因组关联研究已经报道了帕金森病(PD)的众多易感基因座。然而,针对这些基因座在中国北方人群中的重复研究却很少。为了评估位于成纤维细胞生长因子20(FGF20)和跨膜蛋白175(TMEM175)基因上的3个多态性标记与中国北方人群PD遗传易感性之间的关系,我们对313例PD患者和318例匹配的对照进行了研究,检测了2个单核苷酸多态性以及1个插入/缺失标记(FGF20基因中的rs591323;G-相关激酶/二酰基甘油激酶θ区域附近的跨膜蛋白175基因中的rs6599388和rs142821586)。采用错配多重聚合酶链反应-限制性片段长度多态性分析以及序列特异性引物聚合酶链反应和限制性片段长度多态性分析方法。rs591323的基因型频率在患者组和对照组之间存在显著差异;然而,rs6599388和rs142821586均与PD无关。我们通过同时对rs6599388和rs142821586进行基因分型,将先前报道在4个亚洲裔人群中常见的rs6599388的哈迪-温伯格不平衡校正到平衡状态。总之,我们发现rs591323与中国北方人群的PD相关,但rs6599388和rs142821586与PD无关。

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