rs3842755

This variant is located in the INS gene.

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GWAS Catalog Trait Associations (2)

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

type 1 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 C
OR 0.28
p 1.0e-16
N 627,819
Major Consortium StudyLarge GWAS
multi-ancestry

sodium measurement

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 C
OR 0.02
p 7.0e-12
N 421,240
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Benign★☆☆☆
1 submitter
View on ClinVar →
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Research that mentions this SNP (2)

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Common variants in the TCF7L2 gene help to differentiate autoimmune from non-autoimmune diabetes in young (15–34 years) but not in middle-aged (40–59 years) diabetic patients
AssociationN=3,261Bakhtadze E. et al.(2008)· Diabetologia

This study examined whether genetic markers (HLA-DQB1, PTPN22, INS VNTR, TCF7L2) could distinguish autoimmune from non-autoimmune diabetes in 1,642 young (15-34 years) and 1,619 middle-aged (40-59 years) Swedish diabetic patients. TCF7L2 rs7903146 CT/TT genotypes were significantly more common in young GADA-negative than GADA-positive patients (53% vs 43%; p=0.0004), suggesting TCF7L2 variants help differentiate type 2 diabetes from autoimmune diabetes in young but not middle-aged patients.

Traits studied:Autoimmune diabetesLADA (latent autoimmune diabetes in adults)Non-autoimmune diabetesType 1 diabetesType 2 diabetes
PubMedDOIMetascience Observatory
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Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): Association between a promoter polymorphism and type 1 diabetes in Asian populations
ReviewEiji Kawasaki et al.(2006)· American Journal of Medical Genetics Part A

This review examines slowly progressive type 1 diabetes mellitus (SPIDDM), also known as latent autoimmune diabetes in adults (LADA), discussing its pathogenesis, diagnostic markers, and genetic associations. Key findings include T-cell-mediated insulitis and pseudoatrophic islets characteristic of type 1 diabetes, absence of amyloid deposition seen in type 2 diabetes, and identification of multiple genetic susceptibility loci including HLA haplotypes, PTPN22 rs2476601, INS rs689, CTLA4, TCF7L2 rs7903146, ZMIZ1 rs12571751, SH2B3 rs7310615, and PFKFB3 rs1983890. GAD autoantibodies and HLA genotypes are important risk factors for beta-cell failure progression.

Traits studied:Acute-onset type 1 diabetesFulminant type 1 diabetesLatent autoimmune diabetes in adultsSlowly progressive type 1 diabetes mellitusType 1 diabetesType 2 diabetes
PubMedDOIMetascience Observatory

About INS

This gene encodes insulin, a peptide hormone that plays a vital role in the regulation of carbohydrate and lipid metabolism. After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with phenotypic effects have been identified, including insulin-dependent diabetes mellitus, permanent neonatal diabetes diabetes mellitus, maturity-onset diabetes of the young type 10 and hyperproinsulinemia. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region. [provided by RefSeq, May 2020]

View all INS variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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