rs6586282

This is a intron 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.

serum metabolite level

Feofanova EV et al. “A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.” American Journal of Human Genetics 107(5):849-863 (2020)

Allele C

OR 0.29

p 9.0e-21

N 3,926

Large GWAS

Hispanic or Latin American

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 4.0e-9

N 9,639

Large GWAS

European

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Research that mentions this SNP (1)

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Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome

AssociationN=243Adam E. Locke et al.(2010)· Genetic Epidemiology

This case-control study examined folate pathway gene variants in 121 DS-AVSD cases and 122 DS controls (no CHD). Tag SNPs in MTHFR, MTR, MTRR, CBS, and SLC19A1 were genotyped. SLC19A1 showed significant gene-level association with atrioventricular septal defect (P=0.01), with multiple tag SNPs nominally associated (OR 1.08-1.72). All significant SLC19A1 SNPs showed strong LD (r²≥0.80) with the nonsynonymous variant rs1051266 (c.80A>G, p.H27R). MTHFR c.1298A was over-transmitted to cases (P=0.05) and under-transmitted to controls (P=0.02), showing association in FBAT analysis (P=0.03 dominant, P=0.01 additive). These results suggest folate pathway disruption contributes to AVSD risk in Down syndrome individuals.

Traits studied:Atrioventricular septal defect (AVSD)Congenital heart defectsDown syndrome

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]