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

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

doi:10.1016/j.neulet.2007.03.050

Cited by 12 publications

(10 citation statements)

References 18 publications

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“…The SNP rs165656 in the literature has been associated with the development of mental retardation in the Han Chinese population, but the authors did not formulate any hypothesis about the underlying pathogenic mechanism of such association. 22,23 Therefore, our data support and extend the number of SNPs present in the promoter region of the COMT gene that could exert a regulatory role in the COMT gene and predispose to pain-associated diseases, by influencing processes such as DNA transcription, RNA splicing, mRNA stability, and mRNA transport and translation. 24 The other polymorphism rs165722 has been recently reported, together to other noncoding SNPs, as common polymorphisms in the COMT gene.…”

Section: Discussionsupporting

confidence: 70%

Catechol-O-Methyltransferase (COMT) Gene Polymorphisms as Risk Factor in Temporomandibular Disorders Patients From Southern Italy

Michelotti¹,

Liguori

Toriello

et al. 2014

The Clinical Journal of Pain

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Section: Discussionsupporting

confidence: 70%

Catechol-O-Methyltransferase (COMT) Gene Polymorphisms as Risk Factor in Temporomandibular Disorders Patients From Southern Italy

Michelotti¹,

Liguori

Toriello

et al. 2014

The Clinical Journal of Pain

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“…This SNP has previously been reported in association with mental retardation in a Chinese population in the Qinba region 25. Although not always included in reviews of low back pain and SNPs, (such as reviews of Eskola et al 6 and of Mayer et al 5), Tegeder and Lotsch have provided a recent 2009 review of COMT genetic variants related to back pain 7.…”

Section: Discussionmentioning

confidence: 99%

A Novel Catechol-O-Methyltransferase Variant Associated with Human Disc Degeneration

Gruber¹,

Wang²,

Brouwer³

et al. 2014

Int. J. Med. Sci.

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Background: Disc degeneration and its associated low back pain are a major health care concern causing disability with a prominent role in this country's medical, social and economic structure. Low back pain is devastating and influences the quality of life for millions. Low back pain lifetime prevalence approximates 80% with an estimated direct cost burden of $86 billion per year. Back pain patients incur higher costs, greater health care utilization, and greater work loss than patients without back pain.Methods: Research was performed following approval of our Institutional Review Board. DNA was isolated, processed and amplified using routine techniques. Amplified DNA was hybridized to Affymetrix Genome-Wide Human SNP Arrays. Quality control and genotyping analysis were performed using Affymetrix Genotyping Console. The Birdseed v2 algorithm was used for genotyping analysis. 2589 SNPs were selected a priori to enter statistical analysis using lotistic regression in SAS.Results: Our objective was to search for novel single nucleotide polymorphisms (SNPs) associated with disc degeneration. Four SNPs were found to have a significant relationship to disc degeneration; three are novel. Rs165656, a new SNP found to be associated with disc degeneration, was in catechol-O-methyltransferase (COMT), a gene with well-recognized pain involvement, especially in female subjects (p=0.01). Analysis confirmed the previously association between COMT SNP rs4633 and disc degeneration. We also report two novel disc degeneration-related SNPs (rs2095019 and rs470859) located in intergenic regions upstream to thrombospondin 2.Conclusions: Findings contribute to the challenging field of disc degeneration and pain, and are important in light of the high clinical relevance of low back pain and the need for improved understanding of its fundamental basis.

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“…The inconsistent results from the association study of allele and genotype with SCZ might be also due to the genetic variability of the COMT gene. Zhang et al (2007) indicated that the G allele and GG genotype rs165656 are significantly associated with mental retardation, which is closely related to psychotic disorders. Our results showed that there was no significant difference between patients and controls by allele or genotype status.…”

Section: Discussionmentioning

confidence: 99%

“…It is well known that DRD3 may mediate the therapeutic actions of antipsychotic drugs (Suzuki et al, 1998) while cathechol-o-methyltransferase (COMT) regulates the amount of dopamine in the prefrontal cortex. Substantial studies indicate a close relationship between COMT and several human psychotic disorders such as bipolar disorder (Kunugi et al, 1997;Shifman et al, 2004) and mental retardation (Zhang et al, 2007).…”

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confidence: 99%

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No evidence for association between DRD3 and COMT with schizophrenia in a Malay population

Tee¹,

Tang²,

Loh³

2011

Genet. Mol. Res.

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ABSTRACT. 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 1851 ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 10 (3): 1850-1855 (2011) Association between DRD3 and COMT with schizophrenia association between other dopamine-related genes and the behavioral phenotypes of schizophrenia.

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

Cited by 12 publications

References 18 publications

Catechol-O-Methyltransferase (COMT) Gene Polymorphisms as Risk Factor in Temporomandibular Disorders Patients From Southern Italy

Catechol-O-Methyltransferase (COMT) Gene Polymorphisms as Risk Factor in Temporomandibular Disorders Patients From Southern Italy

A Novel Catechol-O-Methyltransferase Variant Associated with Human Disc Degeneration

No evidence for association between DRD3 and COMT with schizophrenia in a Malay population

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