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From SNPedia

Geno Mag Summary
(A;A) reduced colorectal risk when combined with INSR SNP
(A;G) reduced colorectal risk when combined with INSR SNP
(G;G) 0 normal
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs1801278
23andMe allrs1801278
SNP Nexus

GWAS Ctlgrs1801278
Max Magnitude0
? (A;A) (A;G) (G;G) 28
[PMID 17914103] The INSR A-603G promoter rs1864010 SNP, which is located within a known Sp1-binding site, was associated with the risk of colorectal cancer, with carriers of the G allele having a decreased risk (odds ratios (OR) 0.71, 95% confidence interval (CI) 0.54-0.93). Carrying the variant allele of the IRS1 Gly972Arg rs1801278 SNP further decreased the risk among the INSR-603G allele carriers (OR 0.28, 95% CI 0.11-0.70)

[PMID 19124510OA-icon.png] multiple myeloma

  • rs1801278 [C/T versus C/C genotypes; OR, 4.3; 95% confidence interval (CI), 1.5-12.1]
  • rs6684439 (T/T versus C/C; OR, 2.9; 95% CI, 1.2-7.0)
  • rs7529229 (C/C versus T/T; OR, 2.5; 95% CI, 1.1-6.0)
  • rs8192284 (C/C versus A/A; OR, 2.5, 95% CI, 1.1-6.0)

[PMID 21544032] Genetic and clinical risk factors of new-onset diabetes after transplantation in Hispanic kidney transplant recipients

[PMID 21645940] The rs1801278 G>A polymorphism of IRS-1 is associated with metabolic syndrome in healthy nondiabetic men. Modulation by cigarette smoking status

[PMID 22729394OA-icon.png] A non-synonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

Risk rs1801278(A;A)
Alt rs1801278(A;A)
Reference rs1801278(G;G)
Significance Other
Disease Insulin resistance Coronary artery disease
Variation info
Gene IRS1
CLNDBN Insulin resistance, susceptibility to Coronary artery disease, susceptibility to
Reversed 1
HGVS NC_000002.11:g.227660544C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022624.2, RCV000022625.2,

[PMID 17570749OA-icon.png] Genetic prediction of future type 2 diabetes.

[PMID 18398029] Genetic polymorphisms involved in insulin-like growth factor (IGF) pathway in relation to mammographic breast density and IGF levels.

[PMID 18398040OA-icon.png] Transcription factor 7-like 2 polymorphism and colon cancer.

[PMID 18599530OA-icon.png] Ser1369Ala variant in sulfonylurea receptor gene ABCC8 is associated with antidiabetic efficacy of gliclazide in Chinese type 2 diabetic patients.

[PMID 18603647OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.

[PMID 18992148OA-icon.png] Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.

[PMID 18992263OA-icon.png] Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.

[PMID 19843326OA-icon.png] Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriers.

[PMID 19956100OA-icon.png] No association of the IRS1 and PAX4 genes with type I diabetes.

[PMID 19956101OA-icon.png] Overview of the Rapid Response data.

[PMID 19956109OA-icon.png] The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.

[PMID 20416077OA-icon.png] Identification of type 2 diabetes-associated combination of SNPs using support vector machine.

[PMID 21834909] A replication study of the IRS1, CAPN10, TCF7L2, and PPARG gene polymorphisms associated with type 2 diabetes in two different populations of Mexico.

GET Evidence
aa_change Gly971Arg
aa_change_short G971R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0661833

[PMID 23133645OA-icon.png] The Interactive Effect of SIRT1 Promoter Region Polymorphism on Type 2 Diabetes Susceptibility in the North Indian Population

[PMID 23690305OA-icon.png] Genetic variants and the risk of gestational diabetes mellitus: a systematic review

[PMID 23633196] Joint effect of insulin signaling genes on insulin secretion and glucose homeostasis

[PMID 24071662] The IRS1 G972R polymorphism and glomerular filtration rate in patients with type 2 diabetes of European ancestry

[PMID 24371822OA-icon.png] IRS1, TCF7L2, ADRB1, PPARG, and HHEX Polymorphisms Associated with Atherogenic Risk in Mexican Population

[PMID 24493031] Association of the genetic variants of insulin receptor substrate 1 (IRS-1) with type 2 diabetes mellitus in a Saudi population

[PMID 24589556] Arg972 insulin receptor substrate-1 polymorphism and risk and severity of Alzheimer's disease

[PMID 24612564] Association of IRS-1, CAPN10 and PPARG gene polymorphisms with T2DM in the high risk population of Hyderabad, India

[PMID 23107043OA-icon.png] Joint effect of insulin signaling genes on cardiovascular events and on whole body and endothelial insulin resistance.

[PMID 23708959] Association between insulin receptor substrate 1 Gly972Arg polymorphism and cancer risk.

[PMID 25463099OA-icon.png] Joint effect of insulin signaling genes on all-cause mortality

[PMID 26582067] Associations between two single-nucleotide polymorphisms (rs1801278 and rs2943641) of insulin receptor substrate 1 gene and type 2 diabetes susceptibility: a meta-analysis