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在中国汉族人群中,FAM47E基因rs6812193、SCARB2基因rs6825004和STX1B基因rs4889603多态性与帕金森病无关联。

No association of FAM47E rs6812193, SCARB2 rs6825004 and STX1B rs4889603 polymorphisms with Parkinson's disease in a Chinese Han population.

作者信息

Chen YongPing, Yuan XiaoQin, Cao Bei, Wei QianQian, Ou RuWei, Yang Jing, Chen XuePing, Zhao Bi, Song Wei, Wu Ying, Shang HuiFang

机构信息

Department of Neurology, West China Hospital, Sichuan University, 610041, Chengdu, Sichuan, People's Republic of China.

出版信息

J Neural Transm (Vienna). 2015 Nov;122(11):1547-52. doi: 10.1007/s00702-015-1430-4. Epub 2015 Jul 30.

Abstract

Recently, a series of studies found that the single-nucleotide polymorphisms (SNPs) rs6812193 in the family with sequence similarity 47, member E (FAM47E), rs6825004 in the scavenger receptor class B member 2 (SCARB2) and rs4889603 in the Syntaxin1B (STX1B) genes increase the risk for Parkinson's disease (PD). However, the results of subsequent independent studies were inconsistent. To explore the associations between the three SNPs and PD in the Chinese population, a large cohort was analyzed in a case-control study. A total of 1994 subjects, including 1179 PD and 815 healthy controls (HCs), were investigated. All subjects were genotyped for rs6812193, rs6825004 and rs4889603 using the Sequenom iPLEX Assay. There was no significant difference in additive genetic model of rs6812193, rs6825004 and rs4889603 between PD and controls, even after being stratified by sex and age. In addition, no significant differences were found between other subgroups of PD patients with regard to clinical presentation. Our findings suggested that FAM47E rs6812193, SCARB2 rs6825004 and STX1B rs4889603 do not confer a significant risk for PD in Chinese population.

摘要

最近,一系列研究发现,家族相似性序列47成员E(FAM47E)基因中的单核苷酸多态性(SNP)rs6812193、清道夫受体B类成员2(SCARB2)基因中的rs6825004以及Syntaxin1B(STX1B)基因中的rs4889603会增加帕金森病(PD)的发病风险。然而,随后独立研究的结果并不一致。为了探究这三个SNP与中国人群中PD的关联,在一项病例对照研究中对一个大型队列进行了分析。共调查了1994名受试者,包括1179例PD患者和815名健康对照(HC)。使用Sequenom iPLEX检测法对所有受试者的rs6812193、rs6825004和rs4889603进行基因分型。即使按性别和年龄分层后,PD患者与对照组在rs6812193、rs6825004和rs4889603的加性遗传模型方面也没有显著差异。此外,PD患者的其他亚组在临床表现方面也未发现显著差异。我们的研究结果表明,FAM47E rs6812193、SCARB2 rs6825004和STX1B rs4889603在中国人群中不会显著增加患PD的风险。

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