rs4273545
This is a regulatory region variant variant in the WFS1 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Multicapillary gel electrophoresis based analysis of genetic variants in the WFS1 geneAssociationN=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.
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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