rs4689388

This is a upstream gene variant variant in the WFS1 gene.

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GWAS Catalog Trait Associations (5)

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

diabetes mellitus

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.08
p 3.0e-33
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry

type 2 diabetes mellitus

Zhao W et al. “Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.” Nature Genetics 49(10):1450-1457 (2017)
Allele A
OR 0.07
p 1.0e-15
N 183,651
Large GWAS
multi-ancestry
Rung J et al. “Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia.” Nature Genetics 41(10):1110-5 (2009)
Allele A
OR 1.16
p 1.0e-8
N 1,376
Large GWAS
European

dermatophytosis

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.04
p 1.0e-12
N 401,217
Major Consortium StudyLarge GWAS
European

dermatomycosis, dermatophytosis

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.03
p 6.0e-12
N 400,018
Major Consortium StudyLarge GWAS
European

tinea unguium

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.04
p 4.0e-11
N 417,664
Major Consortium StudyLarge GWAS
European
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Research that mentions this SNP (1)

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Multicapillary gel electrophoresis based analysis of genetic variants in the WFS1 gene
AssociationN=996Zsuzsanna Elek et al.(2016)· ELECTROPHORESIS

This association study investigated three WFS1 promoter polymorphisms (rs4689388, rs148797429, rs4273545) in relation to type 2 diabetes mellitus using a case-control design with 996 Hungarian subjects. All three polymorphisms showed statistically significant association with T2DM in both allele-wise and genotype-wise analyses (p < 0.0001 after Bonferroni correction), with odds ratios of 1.45-1.47. Functional studies using luciferase reporter assays demonstrated that rs4273545 T allele resulted in ~2.5-fold increased promoter activity, with effect dependent on the rs148797429 region context.

Traits studied:Type 2 diabetes mellitus
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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