GRIN1基因启动子区域G1001C多态性与精神分裂症之间的关联。
Association between the G1001C polymorphism in the GRIN1 gene promoter region and schizophrenia.
作者信息
Begni Silvia, Moraschi Stefania, Bignotti Stefano, Fumagalli Fabio, Rillosi Luciana, Perez Jorge, Gennarelli Massimo
机构信息
Genetics Unit, IRCCS S. Giovanni di Dio, Fatebenefratelli, Brescia, Italy
出版信息
Biol Psychiatry. 2003 Apr 1;53(7):617-9. doi: 10.1016/s0006-3223(02)01783-3.
BACKGROUND
The GRIN1 gene plays a fundamental role in many brain functions, and its involvement in the pathogenesis of the schizophrenia has been widely investigated. Non-synonymous polymorphisms have not been identified in the coding regions. To investigate the potential role of GRIN1 in the susceptibility to schizophrenia, we analyzed the G1001C polymorphism located in the promoter region in a case-control association study.
METHODS
The G1001C polymorphism allele distribution was analyzed in a sample of 139 Italian schizophrenic patients and 145 healthy control subjects by a polymerase chain reaction amplification followed by digestion with a restriction endonuclease.
RESULTS
We found that the C allele may alter a consensus sequence for the transcription factor NF-kappa B and that its frequency was higher in patients than in control subjects (p =.0085). The genotype distribution also was different, with p =.034 (if C allele dominant, p =.0137, odds ratio 2.037, 95% confidence interval 1.1502-3.6076).
CONCLUSIONS
The association reported in this study suggests that the GRIN1 gene is a good candidate for the susceptibility to schizophrenia.
背景
GRIN1基因在多种脑功能中起关键作用，其与精神分裂症发病机制的关联已得到广泛研究。编码区未发现非同义多态性。为研究GRIN1在精神分裂症易感性中的潜在作用，我们在一项病例对照关联研究中分析了位于启动子区的G1001C多态性。
方法
采用聚合酶链反应扩增后用限制性内切酶消化的方法，对139例意大利精神分裂症患者和145例健康对照者样本中的G1001C多态性等位基因分布进行分析。
结果
我们发现C等位基因可能改变转录因子NF-κB的共有序列，且其在患者中的频率高于对照者（p = 0.0085）。基因型分布也不同，p = 0.034（若C等位基因占优势，p = 0.0137，优势比2.037，95%可信区间1.1502 - 3.6076）。
结论
本研究报道的关联表明GRIN1基因是精神分裂症易感性的一个良好候选基因。
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