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    BHMT betaine--homocysteine S-methyltransferase [ Homo sapiens (human) ]

    Gene ID: 635, updated on 28-Oct-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Ribosomal modification protein rimK-like family member A activates betaine-homocysteine S-methyltransferase 1 to ameliorate hepatic steatosis.

    Ribosomal modification protein rimK-like family member A activates betaine-homocysteine S-methyltransferase 1 to ameliorate hepatic steatosis.
    Yan H, Liu W, Xiang R, Li X, Hou S, Xu L, Wang L, Zhao D, Liu X, Wang G, Chi Y, Yang J., Free PMC Article

    09/17/2024
    BHMT polymorphism and susceptibility to PTE in Chinese patients.

    BHMT polymorphism and susceptibility to PTE in Chinese patients.
    Zhang WH, Zhao SM, Guo JF, Liu YP, Jiang YQ.

    05/22/2023
    Interaction analysis of gene variants related to one-carbon metabolism with chronic hepatitis B infection in Chinese patients.

    Interaction analysis of gene variants related to one-carbon metabolism with chronic hepatitis B infection in Chinese patients.
    Sun YH, Gao J, Liu XD, Tang HW, Cao SL, Zhang JK, Wen PH, Wang ZH, Li J, Guo WZ, Zhang SJ.

    02/5/2022
    The BHMT-betaine methylation pathway epigenetically modulates oligodendrocyte maturation.

    The BHMT-betaine methylation pathway epigenetically modulates oligodendrocyte maturation.
    Sternbach S, West N, Singhal NK, Clements R, Basu S, Tripathi A, Dutta R, Freeman EJ, McDonough J., Free PMC Article

    10/16/2021
    Associations between folate and choline intake, homocysteine metabolism, and genetic polymorphism of MTHFR, BHMT and PEMT in healthy pregnant Polish women.

    Associations between folate and choline intake, homocysteine metabolism, and genetic polymorphism of MTHFR, BHMT and PEMT in healthy pregnant Polish women.
    Chmurzynska A, Seremak-Mrozikiewicz A, Malinowska AM, Różycka A, Radziejewska A, KurzawiŃska G, Barlik M, Wolski H, Drews K.

    04/24/2021
    Association of Betaine-Homocysteine S-Methyl Transferase (rs3797546 and rs3733890) polymorphisms with non-syndromic cleft lip/palate: A meta-analysis.

    Association of Betaine-Homocysteine S-Methyl Transferase (rs3797546 and rs3733890) polymorphisms with non-syndromic cleft lip/palate: A meta-analysis.
    Imani MM, Lopez-Jornet P, López EP, Ghanbari F, Sadeghi M.

    10/3/2020
    Lower levels of BHMT or CBS promoter total methylation might be associated with increased the risk of treatment failure.

    Association between BHMT and CBS gene promoter methylation with the efficacy of folic acid therapy in patients with hyperhomocysteinemia.
    Huang X, Li D, Zhao Q, Zhang C, Ren B, Yue L, Du B, Godfrey O, Wang X, Zhang W.

    03/14/2020
    It can be inferred from the data obtained that folate system genetic variants and mild hyperhomocysteimenia may affect ADHD associated traits by attenuating folate metabolism.

    Genetic variants of the folate metabolic system and mild hyperhomocysteinemia may affect ADHD associated behavioral problems.
    Saha T, Chatterjee M, Verma D, Ray A, Sinha S, Rajamma U, Mukhopadhyay K.

    01/12/2019
    Our study suggested markers in BHMT/BHMT2 and DMGDH might affect the risk of NSCL/P through pairwise interaction.

    Evidence of interaction between genes in the folate/homocysteine metabolic pathway in controlling risk of non-syndromic oral cleft.
    Wang P, Wu T, Schwender H, Wang H, Shi B, Wang ZQ, Yuan Y, Liu DJ, Wang MY, Li J, Zhou ZB, Zhu HP, Beaty TH.

    11/10/2018
    BHMT (rs3733890) polymorphism showed no association with ALL. Hence this investigation needs further evaluation in larger sample size and effect of other SNPs, CNVs and miRNA's is required to elucidate the role of BHMT gene in ALL development.

    Acute lymphoblastic leukemia and genetic variations in BHMT gene: Case-control study and computational characterization.
    Bellampalli R, Vohra M, Sharma K, Bhaskaranand N, Bhat KG, Prasad K, Sharma AR, Satyamoorthy K, Rai PS.

    05/5/2018
    In genotypic combination analysis considering PEMT -744GG/CHDH +432GG/BHMT +742GG as the reference combination, PEMT -744GC/CHDH +432GG/BHMT +742GG genotypic combination was significantly higher in mothers of a down syndrome child compared with that in control mothers with an odds ratio of 2.061 (95% CI: 1.10-3.86, P=0.0342).

    Choline metabolic pathway gene polymorphisms and risk for Down syndrome: An association study in a population with folate-homocysteine metabolic impairment.
    Jaiswal SK, Sukla KK, Chauhan A, Lakhotia AR, Kumar A, Rai AK.

    01/13/2018
    It was concluded that during pregnancy, the BHMT pathway is affected by folate status and by the variant BHMT c.716A allele.

    Maternal Folate Status and the BHMT c.716G>A Polymorphism Affect the Betaine Dimethylglycine Pathway during Pregnancy.
    Colomina JM, Cavallé-Busquets P, Fernàndez-Roig S, Solé-Navais P, Fernandez-Ballart JD, Ballesteros M, Ueland PM, Meyer K, Murphy MM., Free PMC Article

    04/1/2017
    low BHMT expression is correlated with aggressive malignant phenotype of HCC. Our data indicate that BHMT may serve as a novel prognostic marker for HCC.

    Downregulation of betaine homocysteine methyltransferase (BHMT) in hepatocellular carcinoma associates with poor prognosis.
    Jin B, Gong Z, Yang N, Huang Z, Zeng S, Chen H, Hu S, Pan G.

    02/18/2017
    The faster evolutionary rate of BHMT2 overall suggests that selective constraints were reduced relative to BHMT.

    Evolutionary Analyses and Natural Selection of Betaine-Homocysteine S-Methyltransferase (BHMT) and BHMT2 Genes.
    Ganu RS, Ishida Y, Koutmos M, Kolokotronis SO, Roca AL, Garrow TA, Schook LB., Free PMC Article

    05/7/2016
    Multiple SNPs in BHMT and BHMT2 were identified to be associated with the occurrence of infant obstructive heart defects and interaction effects with maternal use of folic acid supplements.

    Obstructive heart defects associated with candidate genes, maternal obesity, and folic acid supplementation.
    Tang X, Cleves MA, Nick TG, Li M, MacLeod SL, Erickson SW, Li J, Shaw GM, Mosley BS, Hobbs CA, National Birth Defects Prevention Study., Free PMC Article

    02/20/2016
    Data suggest BHMT is activated by binding of potassium ions; role of potassium ions in BHMT appears to be structural; potassium ions facilitate specific binding of substrate homocysteine (rather than substrate betaine) to active site of the enzyme.

    Specific potassium ion interactions facilitate homocysteine binding to betaine-homocysteine S-methyltransferase.
    Mládková J, Hladílková J, Diamond CE, Tryon K, Yamada K, Garrow TA, Jungwirth P, Koutmos M, Jiráček J.

    10/31/2015
    Study suggests BHMT holds considerable potential as a blood biomarker for acute liver injury.

    Betaine homocysteine methyltransferase (BHMT) as a specific and sensitive blood marker for acute liver injury.
    Ma H, Ning J, Jin X, Mao C, Bu X, Wang M, Liu H, Wang K, Lausted C, Hood L, Chen J, Hu Z.

    06/20/2015
    Women harboring the single nucleotide polymorphism BHMT 742G>A have a decreased risk of a Down Syndrome pregnancy.

    Betaine-homocysteine methyltransferase 742G>A polymorphism and risk of down syndrome offspring in a Brazilian population.
    Amorim MR, Moura CM, Gomes AD, Barboza HN, Lopes RB, Ribeiro MG, Costa Lima MA.

    03/1/2014
    Our study suggests that the polymorphism BHMT G742A may modulate the Down syndrome risk in Brazilian mothers.

    BHMT G742A and MTHFD1 G1958A polymorphisms and Down syndrome risk in the Brazilian population.
    Zampieri BL, Biselli JM, Goloni-Bertollo EM, Pavarino EC.

    10/27/2012
    Known common single-nucleotide polymorphisms in MTRR and BHMT genes may not be significant risk factors for cororonary artery disease.

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

    10/27/2012
    The BHMT 742GA or AA genotypes associated with tobacco consumption (P = 0.016) increase the risk for head and neck squamous cell carcinoma.

    MTHFD1 G1958A, BHMT G742A, TC2 C776G and TC2 A67G polymorphisms and head and neck squamous cell carcinoma risk.
    da Silva LM, Galbiatti AL, Ruiz MT, Raposo LS, Maniglia JV, Pavarino EC, Goloni-Bertollo EM.

    05/5/2012
    A transcription variant of exon 4 of betaine-homocysteine methyltransferase (BHMT) produces a loss of function of BHMT in human hepatocarcinoma

    A splicing variant leads to complete loss of function of betaine-homocysteine methyltransferase (BHMT) gene in hepatocellular carcinoma.
    Pellanda H, Namour F, Fofou-Caillierez M, Bressenot A, Alberto JM, Chéry C, Ayav A, Bronowicki JP, Guéant JL, Forges T.

    04/7/2012
    Three SNPs (rs41272270, rs16876512, and rs6875201), located 28kb upstream, in the 5'-UTR and in intron 1 of BHMT, respectively, were significantly correlated with both BHMT activity and protein levels.

    Betaine-homocysteine methyltransferase: human liver genotype-phenotype correlation.
    Feng Q, Kalari K, Fridley BL, Jenkins G, Ji Y, Abo R, Hebbring S, Zhang J, Nye MD, Leeder JS, Weinshilboum RM., Free PMC Article

    10/29/2011
    No significant level of association was found with cleft lip with or without cleft palate and BHMT variants.

    New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate.
    Martinelli M, Masiero E, Carinci F, Morselli PG, Pezzetti F, Scapoli L.

    10/15/2011
    Results might suggest the protective role of the BHMT 239Gln variant in cervical cancer incidence.

    Folate and choline metabolism gene variants and development of uterine cervical carcinoma.
    Mostowska A, Myka M, Lianeri M, Roszak A, Jagodziński PP.

    10/8/2011
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