Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.A72S
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COMT

NM_000754.4:p.A72S

Associated Papers

Does COMT Play a Role in Parkinson's Disease Susceptibility across Diverse Ancestral Populations?

Martín-Bórnez M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

Does COMT Play a Role in Parkinson's Disease Susceptibility Across Diverse Ancestral Populations?

Martín-Bórnez M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Rare Catechol-O-methyltransferase Missense Variants Are Structurally Unstable Proteasome Targets.

Larsen FB et al.

Biochemistry, 2023

Brain radiotoxicity-related 15CAcBRT gene expression signature predicts survival prognosis of glioblastoma patients.

Reyes-González J et al.

Neuro-oncology, 2023

Pharmacogenomic profile of actionable molecular variants related to drugs commonly used in anesthesia: WES analysis reveals new mutations.

Parada-Márquez JF et al.

Frontiers in Pharmacology, 2023

37021041 (PubMed )
Supplement: Table3.xlsx › Hoja1

The effects of catechol-O-methyltransferase single nucleotide polymorphisms on positive and negative symptoms of schizophrenia: A systematic review and meta-analysis.

Misir E et al.

Psych Journal, 2022

35642295 (PubMed )
Supplement: supplement_1.docx

Computational analysis of deleterious single nucleotide polymorphisms in catechol O-Methyltransferase conferring risk to post-traumatic stress disorder.

Chitrala KN et al.

Journal of Psychiatric Research, 2021

Which Dopamine Polymorphisms Are Functional? Systematic Review and Meta-analysis of COMT, DAT, DBH, DDC, DRD1-5, MAOA, MAOB, TH, VMAT1, and VMAT2.

Tunbridge EM et al.

Biological Psychiatry, 2019

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons.

Deneault E et al.

Stem Cell Reports, 2018

30392976 (PubMed )
Supplement: mmc5.pdf

The advances of genetics research on Hirschsprung's disease.

Ke J et al.

Pediatric Investigation, 2018

Interaction Between Environmental Risk Factors and Catechol-O-Methyltransferase (COMT) and X-Ray Repair Cross-Complementing Protein 1 (XRCC1) Gene Polymorphisms in Risk of Lung Cancer Among Non-Smoking Chinese Women: A Case-Control Study.

Pan JL et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2018

Catechol-O-methyltransferase (COMT) genetic variants are associated with cognitive decline in patients with Parkinson's disease.

Lin CH et al.

Parkinsonism & Related Disorders, 2018

Interacting Effect of Catechol-O-Methyltransferase (COMT) and Monoamine Oxidase A (MAOA) Gene Polymorphisms, and Stressful Life Events on Aggressive Behavior in Chinese Male Adolescents.

Wang M et al.

Frontiers in Psychology, 2018

Depression and Catechol-O-methyltransferase (COMT) genetic variants are associated with pain in Parkinson's disease.

Lin CH et al.

Scientific Reports, 2017

Exome-Wide Association Study Identified New Risk Loci for Hirschsprung's Disease.

Tang W et al.

Molecular Neurobiology, 2017

No associations between five polymorphisms in COMT gene and migraine.

Takigawa H et al.

Acta Neurologica Scandinavica, 2017

Meta-Analysis of the COMT Val158Met Polymorphism in Major Depressive Disorder: Effect of Ethnicity.

Wang M et al.

Journal of Neuroimmune Pharmacology : the Official Journal of the Society on Neuroimmune Pharmacology, 2016

Catechol-O-Methyltransferase Val158Met Polymorphism and Clinical Response to Antipsychotic Treatment in Schizophrenia and Schizo-Affective Disorder Patients: a Meta-Analysis.

Huang E et al.

The International Journal of Neuropsychopharmacology, 2016

Investigation of Recessive Effects in Schizophrenia Using Next-Generation Exome Sequence Data.

Curtis D

Annals of Human Genetics, 2015

COMT and MAO-A polymorphisms and obsessive-compulsive disorder: a family-based association study.

Sampaio AS et al.

Plos One, 2015

The Role of the Catechol-o-Methyltransferase (COMT) GeneVal158Met in Aggressive Behavior, a Review of Genetic Studies.

Qayyum A et al.

Current Neuropharmacology, 2015

COMT gene and risk for Parkinson's disease: a systematic review and meta-analysis.

Jiménez-Jiménez FJ et al.

Pharmacogenetics and Genomics, 2014

Therapygenetics in mindfulness-based cognitive therapy: do genes have an impact on therapy-induced change in real-life positive affective experiences?

Bakker JM et al.

Translational Psychiatry, 2014

Structural and energetic analyses of SNPs in drug targets and implications for drug therapy.

Sun HY et al.

Journal of Chemical Information and Modeling, 2013

24304102 (PubMed )
Supplement: ci400457v_si_003.xls › Sheet1

Association Between Catechol-O-Methyltransferase (COMT) Gene Polymorphisms, Parkinson's Disease, and Levodopa Efficacy.

Yin B et al.

Molecular Diagnosis & Therapy, 2013

Association between a COMT polymorphism and clinical response to risperidone treatment: a pharmacogenetic study.

Zhao QZ et al.

Psychiatric Genetics, 2012

Prediction of susceptibility to major depression by a model of interactions of multiple functional genetic variants and environmental factors.

Wong ML et al.

Molecular Psychiatry, 2012

A meta-analysis of the Val158Met COMT polymorphism and violent behavior in schizophrenia.

Singh JP et al.

Plos One, 2012

Orientation and cellular distribution of membrane-bound catechol-O-methyltransferase in cortical neurons: implications for drug development.

Chen J et al.

The Journal of Biological Chemistry, 2011

Neurobiology of aggression and violence in schizophrenia.

Soyka M

Schizophrenia Bulletin, 2011

Association analysis of COMT polymorphisms with schizophrenia and smooth pursuit eye movement abnormality.

Park BL et al.

Journal of Human Genetics, 2009

A hotspot of inactivation: The A22S and V108M polymorphisms individually destabilize the active site structure of catechol O-methyltransferase.

Rutherford K et al.

Biochemistry, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

Characterization of a novel human catechol-O-methyl-transferase mutant with triplet point mutations.

Bai HW et al.

International Journal of Molecular Medicine, 2008

Lack of association between the functional polymorphisms in the estrogen-metabolizing genes and risk for hepatocellular carcinoma.

Yuan X et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2008

New functional single nucleotide polymorphism (Ala72Ser) in the COMT gene is associated with aggressive behavior in male schizophrenia.

Hong JP et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2008

Mutations in human monoamine-related neurotransmitter pathway genes.

Haavik J et al.

Human Mutation, 2008

A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of non-small cell lung cancer in smokers.

Zienolddiny S et al.

Carcinogenesis, 2008

Association analysis of COMT polymorphisms and schizophrenia in a Chinese Han population: a case-control study.

Yu R et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2007

Polymorphisms of catechol-O-methyltransferase in men with renal cell cancer.

Tanaka Y et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2007

The catechol-O-methyl transferase (COMT) gene as a candidate for psychiatric phenotypes: evidence and lessons.

Craddock N et al.

Molecular Psychiatry, 2006

Significant association of catechol-O-methyltransferase (COMT) haplotypes with nicotine dependence in male and female smokers of two ethnic populations.

Beuten J et al.

Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology, 2006

Japanese single nucleotide polymorphism database for 267 possible drug-related genes.

Iida A et al.

Cancer Science, 2006

Association of Ala72Ser polymorphism with COMT enzyme activity and the risk of schizophrenia in Koreans.

Lee SG et al.

Human Genetics, 2005

[SNP collection, pharmacogenomics, and the future of drug therapy].

Iida A et al.

Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2002

Pharmacogenetic analysis of adverse drug effect reveals genetic variant for susceptibility to liver toxicity.

Acuña G et al.

The Pharmacogenomics Journal, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."