rs617219

neutralMag 2.8

This is a intron variant variant in the BHMT gene.

Key Literature Trait Associations

Betaine-Homocysteine Methylation

The BHMT-04 variant (rs617219) is an intronic polymorphism in betaine-homocysteine S-methyltransferase. No peer-reviewed association studies have established independent clinical significance for this variant. It is primarily reported in methylation nutrigenomics protocols.

Hartiala JA et al. “Genome-wide association study and targeted metabolomics identifies sex-specific association of CPS1 with coronary artery disease.” Nature Communications 7:10558 (2016)

Allele C

OR —

β 0.059 ±0.008

p 7.0e-13

N 3,880

Large GWAS

European (ancestry not reported)

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 C

OR —

p 1.0e-1

Candidate gene study

Andreu-Sánchez S et al. “Unraveling interindividual variation of trimethylamine N-oxide and its precursors at the population level.” Imeta (2024)

Allele C

OR —

β 0.104 ±0.018

p 4.0e-9

N 7,834

Large GWAS

European (Dutch)

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

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Research that mentions this SNP (1)

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Folate pathway and nonsyndromic cleft lip and palate

AssociationN=445Susan H. Blanton et al.(2011)· Birth Defects Research Part A: Clinical and Molecular Teratology

This family-based association study examined 14 folate pathway genes using 89 SNPs in 445 NSCLP families (317 non-Hispanic White, 128 Hispanic) to identify genetic variants contributing to nonsyndromic cleft lip and palate. Evidence for association was found with SNPs in NOS3 and TYMS in the non-Hispanic White group (rs2373929/NOS3, rs502396/TYMS, and others), and with MTR, BHMT2, MTHFS, and SLC19A1 in the Hispanic group (rs1422086/BHMT2, rs2115540/MTHFS significant after Bonferroni correction). Multiple gene-gene interactions were detected, with CBS and MTHFD1 showing the most extensive interactions. Significant interactions were also found between several SNPs and maternal smoking and one SNP (rs651646/FOLR2) with offspring sex.

rs617219

Key Literature Trait Associations

Betaine-Homocysteine Methylation

GWAS Catalog Trait Associations (1)

Research that mentions this SNP (1)

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