title: An association study between cathechol-O-methyltransferase gene and mental retardation in the Chinese Han population.
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.
authors: Chinese Ministry of Education Key Laboratory of Resource Biology & Biotechnology, Institute of Population & Health, Institute of Applied Psychology, Northwest University, Xi'an 710069, China.
authors: Kejin
authors: K
authors: Zhang
authors: Jianjun
authors: J
authors: Gao
authors: Caiyan
authors: C
authors: An
authors: Xiaocai
authors: X
authors: Gao
authors: Zijian
authors: Z
authors: Zheng
authors: Ruilin
authors: R
authors: Li
authors: Shaoping
authors: S
authors: Huang
authors: Fuchang
authors: F
authors: Zhang
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D002394:Catechol O-Methyltransferase / Q000235:genetics*; D002681:China / Q000453:epidemiology / Q000208:ethnology; D016001:Confidence Intervals; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007361:Intelligence Tests; D008297:Male; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods
chemical_list: D012333:RNA, Messenger; D002394:Catechol O-Methyltransferase