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神经调节蛋白 1 错义多态性(rs3924999,Arg253Gln)与韩国人群精神分裂症的关联。

Association between a Missense Polymorphism (rs3924999, Arg253Gln) of Neuregulin 1 and Schizophrenia in Korean Population.

机构信息

College of Nursing, Sungshin Women's University, Seoul 136-742, Korea.

出版信息

Exp Neurobiol. 2012 Dec;21(4):158-63. doi: 10.5607/en.2012.21.4.158. Epub 2012 Dec 26.

DOI:10.5607/en.2012.21.4.158
PMID:23319876
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3538180/
Abstract

Neuregulin 1 (NRG1) is associated with the pathogenesis of schizophrenia through controlling activation and signaling of neurotransmitter receptors. Influence to schizophrenia development by the NRG1 gene may differ in individuals, and genetic polymorphism is one of the factors affecting their differences. Association between three single nucleotide polymorphisms (SNPs) (rs7014762, -1174 A/T; rs11998176, -788 A/T; rs3924999, Arg253Gln) of NRG1 and the development of schizophrenia was analyzed in 221 schizophrneia and 359 control subjects. Polymerase chain reaction and direct sequencing were performed to obtain genotype data of NRG1 SNPs of the subjects. In analysis of genetic data, multiple logistic regression models (codominant1, codominant2, dominant, recessive, and log-additive model) were applied. SNPStats and SPSS 18.0 were used to calculate odds ratio (OR), 95% confidence interval (CI), and p-value of each model. The genotype distributions of rs3924999 were associated with schizophrenia development (OR=0.67, 95% CI=0.47-0.95, p=0.022 in the dominant model and OR=0.69, 95% CI=0.51-0.93, p=0.013 in the log-addtive model) and allelic distributions also showed significant association (OR=0.70, 95% CI=0.52-0.93, p=0.014). The results suggest that rs3924999 of the NRG1 gene may be associated with schizophrenia susceptibility.

摘要

神经调节蛋白 1(NRG1)通过控制神经递质受体的激活和信号转导与精神分裂症的发病机制有关。NRG1 基因对精神分裂症发展的影响在个体之间可能不同,而遗传多态性是影响其差异的因素之一。分析了 NRG1 的三个单核苷酸多态性(SNP)(rs7014762、-1174A/T;rs11998176、-788A/T;rs3924999、Arg253Gln)与精神分裂症发展之间的关系,在 221 例精神分裂症患者和 359 例对照中进行了研究。采用聚合酶链反应和直接测序法获得了受试者 NRG1SNP 的基因型数据。在遗传数据分析中,应用了多变量逻辑回归模型(共显性 1、共显性 2、显性、隐性和对数加性模型)。使用 SNPStats 和 SPSS18.0 计算每个模型的优势比(OR)、95%置信区间(CI)和 p 值。rs3924999 的基因型分布与精神分裂症的发病有关(显性模型中的 OR=0.67,95%CI=0.47-0.95,p=0.022;对数加性模型中的 OR=0.69,95%CI=0.51-0.93,p=0.013),等位基因分布也显示出显著的相关性(OR=0.70,95%CI=0.52-0.93,p=0.014)。结果表明,NRG1 基因的 rs3924999 可能与精神分裂症易感性有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b927/3538180/2006146e964b/en-21-158-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b927/3538180/2006146e964b/en-21-158-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b927/3538180/2006146e964b/en-21-158-g001.jpg

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