rs10790256

This is a synonymous variant in the TREH gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (1)

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

alkaline phosphatase measurement

Olafsson S et al. “Common and Rare Sequence Variants Influencing Tumor Biomarkers in Blood.” Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology 29(1):225-235 (2020)

Allele T

OR 0.03

p 1.0e-9

N 162,774

Large GWAS

European

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ClinVar annotation

Benign

1 submitter

TREH-related disorder

View on ClinVar →

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Research that mentions this SNP (1)

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Identification of genetic variation that determines human trehalase activity and its association with type 2 diabetes

AssociationN=7,667Yunhua L. Muller et al.(2013)· Human Genetics

This association study identified genetic variants in the TREH gene that determine trehalase enzyme activity in Pima Indians. Four tag SNPs (rs2276064, rs117619140, rs10790256, rs558907) explained 51% of trehalase activity variance (p-values from 2.2×10−11 to 1.4×10−23). Notably, rs558907 was reproducibly associated with type 2 diabetes across three Pima samples (combined OR 1.27, p=1.6×10−4, n=7,667), though trehalase activity itself did not predict diabetes progression, suggesting the T2D association may operate through a different mechanism.

Traits studied:Body mass indexTrehalase activityType 2 diabetes

PubMed DOI Metascience 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]