rs625879
This is a intron variant variant in the BHMT2 gene.
▶Research that mentions this SNP (1)
▶Polymorphisms in CHDH gene and the risk of tooth agenesisAssociationN=344Adrianna Mostowska et al.(2011)· Birth Defects Research Part A: Clinical and Molecular Teratology
This case-control study examined 21 SNPs in 13 folate and choline metabolism genes for associations with tooth agenesis (hypodontia/oligodontia) in a Polish population of 159 cases and 185 controls. The CHDH gene variant rs6445606 showed the strongest association with a protective effect (OR=0.434, p=0.0004), with individuals carrying the C allele having reduced risk of tooth agenesis. Multifactor dimensionality reduction analysis revealed a significant epistatic interaction between CHDH rs6445606 and PLD2 rs3764897 (p=0.004).
About BHMT2
Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and other intracellular metabolites. The protein encoded by this gene is one of two methyl transferases that can catalyze the transfer of the methyl group from betaine to homocysteine. Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
View all BHMT2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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