Galehdari Hamid, Pooryasin Atefeh, Foroughmand Alimohammad, Daneshmand Setareh, Saadat Mostafa
Shahid Chamran University, Ahvaz, Iran.
J Mol Neurosci. 2009 Jun;38(2):178-81. doi: 10.1007/s12031-008-9148-5. Epub 2008 Sep 16.
Schizophrenia is a complex genetic disorder to which genetic variation in the glutamatergic signaling pathways is believed to play a substantial role in the etiology of the disease. Association studies have implicated the N-methyl-D-aspartate receptor subunit gene, GRIN1, as a candidate gene for schizophrenia. In this report, we used a case control study to establish the possible association between the G1001C polymorphism in the GRIN1 gene promoter region and schizophrenia in an Iranian cohort of 200 unrelated patients and 200 controls. The allelic and genotypic frequencies of the polymorphism were determined using polymerase chain reaction restriction fragment length polymorphism. Data analysis using logistic regression and the Mantel-Haenszel chi-square test revealed a strong association between the G1001C polymorphism and schizophrenia (CG genotype: odds ratio (OR) = 2.12, 95% confidence interval (CI) 1.34-3.48, P = 0.001 and CC genotype: OR = 29.10, 95% CI 3.40-565.78, P < 0.001). Furthermore, the C allele is significantly associated with an increasing risk of schizophrenia.
精神分裂症是一种复杂的遗传性疾病,谷氨酸能信号通路中的基因变异被认为在该疾病的病因中起重要作用。关联研究表明,N-甲基-D-天冬氨酸受体亚基基因GRIN1是精神分裂症的候选基因。在本报告中,我们采用病例对照研究,在一个由200名无亲缘关系的患者和200名对照组成的伊朗队列中,确定GRIN1基因启动子区域的G1001C多态性与精神分裂症之间的可能关联。使用聚合酶链反应-限制性片段长度多态性方法确定该多态性的等位基因和基因型频率。通过逻辑回归和Mantel-Haenszel卡方检验进行数据分析,结果显示G1001C多态性与精神分裂症之间存在强关联(CG基因型:比值比(OR)=2.12,95%置信区间(CI)1.34 - 3.48,P = 0.001;CC基因型:OR = 29.10,95% CI 3.40 - 565.78,P < 0.001)。此外,C等位基因与精神分裂症风险增加显著相关。