Tee S F, Tang P Y, Loh H C
Department of Chemical Engineering, Faculty of Engineering and Science, Universiti Tunku Abdul Rahman, Kuala Lumpur, Malaysia.
Genet Mol Res. 2011 Aug 26;10(3):1850-5. doi: 10.4238/vol10-3gmr1237.
Molecular components of the dopamine D3 receptor (DRD3) may play an important role in the pathophysiology of schizophrenia. Previous studies have demonstrated an association between DRD3 Ser9Gly and cathechol-o-methyltransferase (COMT, SNP = rs165656) polymorphisms and schizophrenia but the results were inconclusive. We investigated this apparent association between Ser9Gly (A/G) polymorphism and an intronic SNP (dbSNP or rs165656) in 261 Malay patients diagnosed with schizophrenia and 216 controls, using PCR-RFLP. The genotype distribution of the polymorphism DRD3 Ser9Gly was in Hardy-Weinberg equilibrium (HWE) for patients (P = 0.1251) and out of HWE for controls (P = 0.0137). However, both healthy controls and schizophrenia patients were out of HWE for the polymorphism COMT rs165656. Based on allele and genotype frequencies in both groups, we found no significant association of DRD3 Ser9Gly polymorphisms and COMT (rs165656) with schizophrenia in Malays. Further studies should examine the association between other dopamine-related genes and the behavioral phenotypes of schizophrenia.
多巴胺D3受体(DRD3)的分子成分可能在精神分裂症的病理生理学中发挥重要作用。先前的研究已证明DRD3基因Ser9Gly多态性与儿茶酚-O-甲基转移酶(COMT,单核苷酸多态性=rs165656)多态性和精神分裂症之间存在关联,但结果尚无定论。我们采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,对261名被诊断为精神分裂症的马来患者和216名对照者进行研究,以调查Ser9Gly(A/G)多态性与内含子单核苷酸多态性(dbSNP或rs165656)之间的这种明显关联。DRD3基因Ser9Gly多态性的基因型分布在患者中处于哈迪-温伯格平衡(HWE)(P = 0.1251),而在对照者中则偏离哈迪-温伯格平衡(P = 0.0137)。然而,对于COMT基因rs165656多态性,健康对照者和精神分裂症患者均偏离哈迪-温伯格平衡。基于两组的等位基因和基因型频率,我们发现DRD3基因Ser9Gly多态性和COMT(rs165656)与马来人精神分裂症之间无显著关联。进一步的研究应考察其他多巴胺相关基因与精神分裂症行为表型之间的关联。