rs507080

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

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GWAS Catalog Trait Associations (1)

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

serum metabolite level

Yu B et al. “Genetic determinants influencing human serum metabolome among African Americans.” Plos Genetics 10(3):e1004212 (2014)
Allele A
OR 0.51
p 3.0e-30
N 1,260
Large GWAS
African American or Afro-Caribbean
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Research that mentions this SNP (1)

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Involvement of different risk factors in clinically severe large joint osteoarthritis according to the presence of hand interphalangeal nodes
Meta-analysisN=21,240Ana M. Valdes et al.(2010)· Arthritis &amp; Rheumatism

Genome-wide meta-analysis of minimal joint space width (cartilage thickness proxy) in 21,240 participants identified four novel loci for cartilage thickness and osteoarthritis: TGFA (rs2862851, beta=-0.067), PIK3R1 (rs10471753, beta=0.062), FGFR3/SLBP (rs2236995, beta=0.049), and TREH/DDX6 (rs496547, beta=-0.058), plus two previously identified loci (DOT1L and RUNX2). This is the first report linking TGFA to human OA.

Traits studied:Cartilage thickness (minimal joint space width)Hip osteoarthritis
PubMedDOIMetascience Observatory

About TREH

This gene encodes an enzyme that hydrolyses trehalose, a disaccharide formed from two glucose molecules found mainly in fungi, plants, and insects. A partial duplication of this gene is located adjacent to this locus on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

View all TREH variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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