rs1801278
| Orientation | minus |
| Stabilized | minus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 226795828 |
| Gene | IRS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1801278 |
| dbSNP (classic) | rs1801278 |
| ClinGen | rs1801278 |
| ebi | rs1801278 |
| HLI | rs1801278 |
| Exac | rs1801278 |
| Gnomad | rs1801278 |
| Varsome | rs1801278 |
| LitVar | rs1801278 |
| Map | rs1801278 |
| PheGenI | rs1801278 |
| Biobank | rs1801278 |
| 1000 genomes | rs1801278 |
| hgdp | rs1801278 |
| ensembl | rs1801278 |
| geneview | rs1801278 |
| scholar | rs1801278 |
| rs1801278 | |
| pharmgkb | rs1801278 |
| gwascentral | rs1801278 |
| openSNP | rs1801278 |
| 23andMe | rs1801278 |
| SNPshot | rs1801278 |
| SNPdbe | rs1801278 |
| MSV3d | rs1801278 |
| GWAS Ctlg | rs1801278 |
| GMAF | 0.05372 |
| Max Magnitude | 0 |
| ? | (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 19124510
] 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 22729394] A non-synonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers
| ClinVar | |
|---|---|
| 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 17570749] 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 18398040] Transcription factor 7-like 2 polymorphism and colon cancer.
[PMID 18599530] Ser1369Ala variant in sulfonylurea receptor gene ABCC8 is associated with antidiabetic efficacy of gliclazide in Chinese type 2 diabetic patients.
[PMID 18603647] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
[PMID 18992148] Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.
[PMID 18992263] Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.
[PMID 19843326] Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriers.
[PMID 19956100] No association of the IRS1 and PAX4 genes with type I diabetes.
[PMID 19956101] Overview of the Rapid Response data.
[PMID 19956109] The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.
[PMID 20416077] 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.
[PMID 23133645] The Interactive Effect of SIRT1 Promoter Region Polymorphism on Type 2 Diabetes Susceptibility in the North Indian Population
[PMID 23690305] 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 24371822] 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 23107043] 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 25463099] 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
[PMID 30319284] IRS-1 genetic polymorphism (r.2963G>A) in type 2 diabetes mellitus patients associated with insulin resistance.
[PMID 30649085] The effects of genetic variants related to insulin metabolism pathways and the interactions with lifestyles on colorectal cancer risk.
[PMID 31704287] Genetic variants in mTOR-pathway-related genes contribute to osteoarthritis susceptibility.
