Have questions? Visit https://www.reddit.com/r/SNPedia

rs1801278

From SNPedia

Orientationminus
Stabilizedminus
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
Chromosome2
Position226795828
GeneIRS1
is asnp
is mentioned by
dbSNPrs1801278
ebirs1801278
HLIrs1801278
Exacrs1801278
Varsomers1801278
Maprs1801278
PheGenIrs1801278
hapmaprs1801278
1000 genomesrs1801278
hgdprs1801278
ensemblrs1801278
gopubmedrs1801278
geneviewrs1801278
scholarrs1801278
googlers1801278
pharmgkbrs1801278
gwascentralrs1801278
openSNPrs1801278
23andMers1801278
23andMe allrs1801278
SNP Nexus

SNPshotrs1801278
SNPdbers1801278
MSV3drs1801278
GWAS Ctlgrs1801278
GMAF0.05372
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


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 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
IRS1-G971R
aa_change Gly971Arg
aa_change_short G971R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0661833
summary



[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