rs651852

neutralMag 1.5

This is a intron variant variant in the BHMT gene.

Key Literature Trait Associations

Betaine-Homocysteine Methylation

The BHMT-08 variant (rs651852) is a polymorphism in the BHMT gene region. This variant has been proposed to influence the betaine-dependent homocysteine remethylation shortcut pathway. Some studies suggest associations with altered glycine levels in homozygous carriers, but peer-reviewed evidence for clinical significance is limited.

Hu Y et al. “BHMT gene polymorphisms as risk factors for cleft lip and cleft palate in a Chinese population.” Biomedical and Environmental Sciences : Bes (2011)

Allele T

OR —

p —

N 451

Candidate gene study

East Asian (Chinese)

van der Linden IJ et al. “The methionine synthase reductase 66A>G polymorphism is a maternal risk factor for spina bifida.” Journal of Molecular Medicine (berlin, Germany) 84(12):1047-1054 (2006)

Allele T

OR —

p 5.0e-2

Candidate gene study

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Research that mentions this SNP (1)

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MTHFR rs2274976 polymorphism is a risk marker for nonsyndromic cleft lip with or without cleft palate in the Brazilian population

AssociationN=1,712Sibele Nascimento de Aquino et al.(2014)· Birth Defects Research Part A: Clinical and Molecular Teratology

Case-control study of 501 young stroke patients and 1,211 controls examining 58 polymorphisms in 17 genes involved in methionine metabolism. Multiple logistic regression identified four independent risk factors for early-onset ischaemic stroke: rs10037045 BHMT (OR 1.38, p=0.033), rs682985 BHMT2 (OR 1.46, p=0.017), rs1051319 CBS (OR 3.75, p<0.0001), and rs202680 FOLH1 (OR 3.00, p<0.0001). Haplotype analyses identified significant associations with BHMT, CBS, FOLH1, MTR, PON2, TCN2 and TYMS haplotypes and stroke risk.

rs651852

Key Literature Trait Associations

Betaine-Homocysteine Methylation

Research that mentions this SNP (1)

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