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  • Title: An association study between cathechol-O-methyltransferase gene and mental retardation in the Chinese Han population.
    Author: Zhang K, Gao J, An C, Gao X, Zheng Z, Li R, Huang S, Zhang F.
    Journal: Neurosci Lett; 2007 May 23; 419(1):83-7. PubMed ID: 17442488.
    Abstract:
    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.
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