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神经调节蛋白 3 不会增加韩国人群精神分裂症和视动性眼跟踪异常的风险。

Neuregulin 3 does not confer risk for schizophrenia and smooth pursuit eye movement abnormality in a Korean population.

机构信息

Department of Life Science, Sogang University, Seoul, Republic of Korea.

出版信息

Genes Brain Behav. 2011 Nov;10(8):828-33. doi: 10.1111/j.1601-183X.2011.00722.x. Epub 2011 Aug 9.

DOI:10.1111/j.1601-183X.2011.00722.x
PMID:21762460
Abstract

Located on chromosome 10q22-q23, the human neuregulin3 (NRG3) is considered to be a strong positional and functional candidate gene for schizophrenia pathogenesis. Several case-control studies examining the association of polymorphisms in NRG3 with schizophrenia and/or related traits such as delusion have been reported recently in cohorts of Han Chinese, Ashkenazi Jews, Australians and white Americans of Western European ancestry. Thus, this study aimed to comprehensively investigate the association of NRG3 genetic variations with the risk of schizophrenia and smooth pursuit eye movement (SPEM) abnormality in a Korean population. Using TaqMan assay, six single-nucleotide polymorphisms (SNPs) in the intronic region of NRG3 were genotyped and two major haplotypes were identified in 435 patients with schizophrenia as cases and 393 unrelated healthy individuals as controls. A total of 113 schizophrenia patients underwent an eye tracking task, and degree of SPEM abnormality was measured using the logarithmic values of the signal/noise (Ln S/N) ratio. Differences in frequency distributions were analyzed using logistic and regression models following various modes of genetic inheritance and controlling for age and sex as covariates. Subsequent analysis revealed that the frequency distributions of NRG3 polymorphisms and haplotypes were similar between schizophrenia patients and healthy controls of Korean ethnicity. Furthermore, no significant differences were observed between the genetic variants tested for SPEM abnormality. By elucidating a lack of association in a Korean population, findings from this study may contribute to the understanding of the genetic etiology focusing on the role of NRG3 in schizophrenia pathogenesis.

摘要

位于染色体 10q22-q23 上的人类神经调节蛋白 3 (NRG3) 被认为是精神分裂症发病机制的一个强有力的位置和功能候选基因。最近,在汉族、阿什肯纳兹犹太人、澳大利亚人和具有西欧血统的白种美国人的队列中,有几项病例对照研究检查了 NRG3 多态性与精神分裂症和/或妄想等相关特征的关联。因此,本研究旨在全面研究 NRG3 遗传变异与韩国人群精神分裂症风险和平滑追随眼动 (SPEM) 异常的关联。使用 TaqMan 分析,对 NRG3 内含子区域的 6 个单核苷酸多态性 (SNP) 进行了基因分型,并在 435 例精神分裂症患者(病例)和 393 名无关健康个体(对照)中确定了两个主要单倍型。共有 113 例精神分裂症患者接受了眼跟踪任务,并使用信号/噪声 (Ln S/N) 比值的对数测量 SPEM 异常的程度。使用逻辑和回归模型分析了不同遗传模式下和控制年龄和性别作为协变量的频率分布差异。随后的分析表明,NRG3 多态性和单倍型的频率分布在韩国精神分裂症患者和健康对照者之间相似。此外,在所测试的遗传变异与 SPEM 异常之间没有观察到显著差异。通过阐明韩国人群中缺乏关联,本研究的结果可能有助于理解以 NRG3 在精神分裂症发病机制中的作用为重点的遗传病因。

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