Gender-Specific Associations between CHGB Genetic Variants and Schizophrenia in a Korean Population.
Gender-Specific Associations between CHGB Genetic Variants and Schizophrenia in a Korean Population.
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DOI：
10.3349/ymj.2017.58.3.619
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发表时间：
2017-05
影响因子：
2.4
通讯作者：
Woo SI
中科院分区：
文献类型：
--
作者：
Shin JG;Kim JH;Park CS;Kim BJ;Kim JW;Choi IG;Hwang J;Shin HD;Woo SI
精神分裂症是一种毁灭性的精神障碍，已知受到遗传因素的影响。嗜铬粒蛋白B(Chgb)是嗜铬粒蛋白基因家族中的一员，已被认为是与精神分裂症风险相关的候选基因。大脑中的多肽激素和神经肽的分泌途径受嗜铬颗粒蛋白的调节。本研究的目的是调查CHGB基因变异与精神分裂症易感性之间的潜在关联。本研究对310例精神分裂症患者和604例健康对照的CHGB基因15个单核苷酸多态性进行了基因分型。统计分析显示，两个基因变异(非同义rs910122；3‘-非翻译区rs2821)与精神分裂症相关[最小p=0.002；优势比(OR)=0.72]，即使在多次测试校正后(pcorr=0.02)。由于众所周知，精神分裂症在性别之间的表达存在差异，因此对性别进行了额外的分析。结果显示，这两个基因变异(rs910122和rs2821)和一个单倍型(Ht3)在男性受试者中与精神分裂症有显著关联(pcorr=0.02；OR=0.64)，而在女性受试者中这种相关性消失(p>；0.05)。尽管这项研究具有样本数量少、缺乏功能研究等局限性，但我们的研究结果表明CHGB基因变异可能对精神分裂症的风险具有性别特异性影响，并为进一步研究提供了有用的初步信息。
Schizophrenia is a devastating mental disorder and is known to be affected by genetic factors. The chromogranin B (CHGB), a member of the chromogranin gene family, has been proposed as a candidate gene associated with the risk of schizophrenia. The secretory pathway for peptide hormones and neuropeptides in the brain is regulated by chromogranin proteins. The aim of this study was to investigate the potential associations between genetic variants of CHGB and schizophrenia susceptibility. In the current study, 15 single nucleotide polymorphisms of CHGB were genotyped in 310 schizophrenia patients and 604 healthy controls. Statistical analysis revealed that two genetic variants (non-synonymous rs910122; rs2821 in 3′-untranslated region) were associated with schizophrenia [minimum p=0.002; odds ratio (OR)=0.72], even after correction for multiple testing (pcorr=0.02). Since schizophrenia is known to be differentially expressed between sexes, additional analysis for sex was performed. As a result, these two genetic variants (rs910122 and rs2821) and a haplotype (ht3) showed significant associations with schizophrenia in male subjects (pcorr=0.02; OR=0.64), whereas the significance disappeared in female subjects (p>0.05). Although this study has limitations including a small number of samples and lack of functional study, our results suggest that genetic variants of CHGB may have sex-specific effects on the risk of schizophrenia and provide useful preliminary information for further study.