rs10012946

This is a intron variant variant in the WFS1 gene.

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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →
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Research that mentions this SNP (2)

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Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations
Meta-analysisN=30,248Franks PW et al.(2008)· Diabetologia

This replication study examined four WFS1 gene SNPs (rs10010131, rs6446482, rs752854, rs734312) in a Swedish type 2 diabetes case-control study (N=1,296 cases/1,412 controls) and conducted meta-analysis of 11 studies (up to 14,139 cases and 16,109 controls). In the Swedish study, rs752854 was associated with reduced diabetes risk (OR=0.85, 95% CI=0.75-0.96, p=0.010). Meta-analysis confirmed robust association for rs10010131 and proxy variants (OR=0.89, 95% CI=0.86-0.92, p=4.9×10⁻¹¹ across all 11 studies).

Traits studied:Type 2 diabetes
PubMedDOIMetascience Observatory
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Testing of diabetes-associated WFS1 polymorphisms in the Diabetes Prevention Program
AssociationN=3,548Florez JC et al.(2008)· Diabetologia

This study tested WFS1 gene polymorphisms (rs10010131, rs752854, rs734312) for association with type 2 diabetes incidence in the Diabetes Prevention Program (DPP) with 3,548 participants. While no statistically significant associations were found in the overall cohort, white participants homozygous for protective alleles showed a trend toward reduced diabetes risk in the lifestyle intervention arm (HR 0.30 for rs752854, p=0.048). Genome-wide association data identified rs10012946 in strong LD with these variants, which was significantly associated with type 2 diabetes (allelic OR 0.85, 95% CI 0.75-0.97, p=0.026).

Traits studied:Diabetes incidenceInsulin secretionInsulin sensitivityType 2 diabetes
PubMedDOIMetascience Observatory

About WFS1

This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]

View all WFS1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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