Varaico: Literature-Extracted Genetic Variants

Gene:BHMT
Variant:p.R239Q
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BHMT

NM_001713.3:p.R239Q

Associated Papers

Association of folate metabolism gene polymorphisms with autism susceptibility and symptom severity in the Chinese population.

Zhang CY et al.

World Journal of Psychiatry, 2025

Higher Incidence of Common Polymorphisms in the Genes of Folate and Methionine Cycles in Children With Orofacial Clefs and Congenital Heart Defects Compared to their Unaffected Siblings.

Karas Kuželički N et al.

Birth Defects Research, 2024

Metabolic liver cancer: associations of rare and common germline variants in one-carbon metabolism and DNA methylation genes.

Antwi SO et al.

Human Molecular Genetics, 2023

Betaine consumption as a new clinical approach to treatment and prophylaxis of folate-related pathologies.

Yeroshkina K et al.

Nutrition Reviews, 2023

BHMT polymorphism and susceptibility to PTE in Chinese patients.

Zhang WH et al.

European Review for Medical and Pharmacological Sciences, 2023

Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.

Pape K et al.

Cancers, 2022

36291768 (PubMed )
Supplement: cancers-14-04984-s001.zip › Table_S2.xlsx › DD204

Folate Pathway Gene Single Nucleotide Polymorphisms and Neural Tube Defects: A Systematic Review and Meta-Analysis.

Almekkawi AK et al.

Journal of Personalized Medicine, 2022

36294748 (PubMed )
Supplement: jpm-12-01609-s001.zip › Supplementary_Table_S1.pdf

Associations between Plasma Choline Metabolites and Genetic Polymorphisms in One-Carbon Metabolism in Postmenopausal Women: The Women's Health Initiative Observational Study.

Ilozumba MN et al.

The Journal of Nutrition, 2020

Methylation map genes can be critical in determining the methylome of intracranial aneurysm patients.

Shafeeque CM et al.

Epigenomics, 2020

SNPs in folate pathway are associated with the risk of nonsyndromic cleft lip with or without cleft palate, a meta-analysis.

Li Q et al.

Bioscience Reports, 2020

Genetic Variants of Homocysteine Metabolism, Homocysteine, and Frailty - Rugao Longevity and Ageing Study.

Ma T et al.

The Journal of Nutrition, Health & Aging, 2020

Non-syndromic Cleft Palate: An Overview on Human Genetic and Environmental Risk Factors.

Martinelli M et al.

Frontiers in Cell and Developmental Biology, 2020

Association between the BHMT gene rs3733890 polymorphism and the efficacy of oral folate therapy in patients with hyperhomocysteinemia.

Ren B et al.

Annals of Human Genetics, 2019

Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

Marini NJ et al.

American Journal of Medical Genetics. Part A, 2019

31063268 (PubMed )
Supplement: AJMG-179-1260-s005.xlsx › Table_S2

MicroRNA-655-3p and microRNA-497-5p inhibit cell proliferation in cultured human lip cells through the regulation of genes related to human cleft lip.

Gajera M et al.

Bmc Medical Genomics, 2019

31122291 (PubMed )
Supplement: 12920_2019_535_MOESM1_ESM.zip › 6_Human_Cleft_Lip_Table_S6__Not_Significant___R2.xlsx › Non-_significant

Genetic polymorphisms in MTR are associated with non-syndromic congenital heart disease from a family-based case-control study in the Chinese population.

Deng C et al.

Scientific Reports, 2019

30911047 (PubMed )
Supplement: 41598_2019_41641_MOESM1_ESM.pdf

Linking genetics to epigenetics: The role of folate and folate-related pathways in neurodevelopmental disorders.

Lintas C

Clinical Genetics, 2019

Serum homocysteine, arsenic methylation, and arsenic-induced skin lesion incidence in Bangladesh: A one-carbon metabolism candidate gene study.

Niedzwiecki MM et al.

Environment International, 2018

Associations between genetic variation in one-carbon metabolism and leukocyte DNA methylation in valproate-treated patients with epilepsy.

Ni G et al.

Clinical Nutrition (edinburgh, Scotland), 2018

Association of neural tube defects with gene polymorphisms in one-carbon metabolic pathway.

Cao L et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2018

Finding the genetic mechanisms of folate deficiency and neural tube defects-Leaving no stone unturned.

Au KS et al.

American Journal of Medical Genetics. Part A, 2017

Acute lymphoblastic leukemia and genetic variations in BHMT gene: Case-control study and computational characterization.

Bellampalli R et al.

Cancer Biomarkers : Section a of Disease Markers, 2017

Genetic Variation in Choline-Metabolizing Enzymes Alters Choline Metabolism in Young Women Consuming Choline Intakes Meeting Current Recommendations.

Ganz AB et al.

International Journal of Molecular Sciences, 2017

One-carbon genetic variants and the role of MTHFD1 1958G>A in liver and colon cancer risk according to global DNA methylation.

Moruzzi S et al.

Plos One, 2017

Maternal Folate Status and the BHMT c.716G>A Polymorphism Affect the Betaine Dimethylglycine Pathway during Pregnancy.

Colomina JM et al.

Nutrients, 2016

Systematic meta-analyses and field synopsis of genetic association studies in colorectal adenomas.

Montazeri Z et al.

International Journal of Epidemiology, 2016

Association between BHMT gene rs3733890 polymorphism and cancer risk: evidence from a meta-analysis.

Xu Y et al.

Oncotargets and Therapy, 2016

The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects.

Coppedè F

Frontiers in Genetics, 2015

Investigations of single nucleotide polymorphisms in folate pathway genes in Chinese families with neural tube defects.

Liu J et al.

Journal of the Neurological Sciences, 2014

Candidate gene polymorphisms in patients with acetaminophen-induced acute liver failure.

Court MH et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2014

Betaine-homocysteine methyltransferase 742G>A polymorphism and risk of down syndrome offspring in a Brazilian population.

Amorim MR et al.

Molecular Biology Reports, 2013

A candidate gene study of one-carbon metabolism pathway genes and colorectal cancer risk.

Martinelli M et al.

The British Journal of Nutrition, 2013

Folate gene polymorphisms MTR A2756G, MTRR A66G, and BHMT G742A and risk for coronary artery disease: a meta-analysis.

Singh PR et al.

Genetic Testing and Molecular Biomarkers, 2012

Folate and vitamin B12-related genes and risk for omphalocele.

Mills JL et al.

Human Genetics, 2012

Folate and choline metabolism gene variants in relation to ovarian cancer risk in the Polish population.

Pawlik P et al.

Molecular Biology Reports, 2012

Genetic aspects of folate metabolism.

Molloy AM

Sub-cellular Biochemistry, 2012

Folate and vitamin B12 in idiopathic male infertility.

Murphy LE et al.

Asian Journal of Andrology, 2011

Polymorphisms in genes involved in folate metabolism and orofacial clefts.

Bhaskar LV et al.

Archives of Oral Biology, 2011

Prenatal vitamins, one-carbon metabolism gene variants, and risk for autism.

Schmidt RJ et al.

Epidemiology (cambridge, Mass.), 2011

Folate and choline metabolism gene variants and development of uterine cervical carcinoma.

Mostowska A et al.

Clinical Biochemistry, 2011

New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate.

Martinelli M et al.

European Journal of Oral Sciences, 2011

Association between selected folate pathway polymorphisms and nonsyndromic limb reduction defects: a case-parental analysis.

Cleves MA et al.

Paediatric and Perinatal Epidemiology, 2011

Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population.

Carter TC et al.

American Journal of Medical Genetics. Part A, 2011

Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study.

Wakai K et al.

Journal of Epidemiology, 2011

Associations of folate and choline metabolism gene polymorphisms with orofacial clefts.

Mostowska A et al.

Journal of Medical Genetics, 2010

Variants of folate metabolism genes and risk of left-sided cardiac defects.

Mitchell LE et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2010

Epidemiologic and genetic aspects of spina bifida and other neural tube defects.

Au KS et al.

Developmental Disabilities Research Reviews, 2010

Single nucleotide polymorphisms in homocysteine metabolism pathway genes: association of CHDH A119C and MTHFR C677T with hyperhomocysteinemia.

Kumar J et al.

Circulation. Cardiovascular Genetics, 2009

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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."