rs234709

This is a regulatory region variant variant in the CBS gene.

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GWAS Catalog Trait Associations (2)

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

homocysteine measurement

van Meurs JB et al. “Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.” The American Journal of Clinical Nutrition 98(3):668-76 (2013)

Allele T

OR 0.07

p 4.0e-24

N 44,147

Large GWAS

European

selenium amount

Cornelis MC et al. “Genome-wide association study of selenium concentrations.” Human Molecular Genetics 24(5):1469-77 (2015)

Allele T

OR —

p 5.0e-9

N 9,639

Large GWAS

European

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Research that mentions this SNP (1)

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Oral facial clefts and gene polymorphisms in metabolism of folate/one‐carbon and vitamin A: a pathway‐wide association study

AssociationN=425Abee L. Boyles et al.(2009)· Genetic Epidemiology

A pathway-wide association study in 425 case-parent triads examined 109 SNPs in 29 folate/one-carbon metabolism genes and 68 SNPs in 16 vitamin A metabolism genes for associations with cleft lip/palate (CL/P) and cleft palate only (CPO). Despite strong epidemiologic evidence that folic acid and vitamin A reduce cleft risk, no convincing genetic associations were found; the strongest association was FOLH1 with CPO (p=0.0008), but findings were fewer than expected by chance and inconsistent with protective effects of vitamin supplementation, suggesting vitamin metabolism gene polymorphisms do not play an etiologic role in oral facial clefts.

Traits studied:Cleft lip with or without cleft palateCleft palate onlyOral facial clefts

PubMed DOI Metascience Observatory

About CBS

The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]