An association study between cathechol-O-methyltransferase gene and mental retardation in the Chinese Han population

作者：Zhang, Kejin; Gao, Jianjun; An, Caiyan; Gao, Xiaocai; Zheng, Zijian; Li, Ruilin; Huang, Shaoping; Zhang, Fuchang^*

来源：Neuroscience Letters, 2007, 419(1): 83-87.

DOI：10.1016/j.neulet.2007.03.050

• mental retardation (MR)
• cathechol-O-methyltransterase (COMT)
• single-nucleotide polymorphism (SNP)
• haplotype analysis
• association study

Cathechol-O-methyltransferase (COMT) regulates the amount of dopamine in the prefrontal cortex (PFC). Substantial studies indicate a close relationship between COMT and several human psychotic disorders. The case-control method was used to study the association between mental retardation (MR) and genetic variants of COMT. Three single nucleotide polymorphisms (SNPs: rs4680, rs165656 and rs165774), in the cathechol-O-methyltransferase (COMT) gene, were genotyped by PCR-RFLP method. Individual SNP analysis shows significant differences only at SNP rs165656 for both genotype and allele frequency when comparing MR cases and controls (p = 0.023, 0.011, respectively). Further haplotype analysis indicates that there are two haplotype sets, rs165656-rs4680 and rs165656-rs165774, which show statistical differences between MR cases and controls (global p = 0.047, p = 0.033, respectively). Our results suggest a positive association between the genetic variants of the COMT gene and MR in the Chinese Han population in the Qinba region.

• 出版日期2007-5-23
• 单位内蒙古医科大学; 西北大学; 西安交通大学; 上海交通大学