{{Rsnum
|rsid=1801278
|Gene=IRS1
|Chromosome=2
|position=226795828
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.05372
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=IRS1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 10.8 | 89.2
| HCB | 0.0 | 4.8 | 95.2
| JPT | 2.3 | 11.6 | 86.0
| YRI | 1.6 | 15.9 | 82.5
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 4.8 | 95.2
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=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|OA=1
}} [[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 Auto
|PMID=21544032
|Title=Genetic and clinical risk factors of new-onset diabetes after transplantation in Hispanic kidney transplant recipients
}}

{{PMID Auto
|PMID=21645940
|Title=The rs1801278 G&gt;A polymorphism of IRS-1 is associated with metabolic syndrome in healthy nondiabetic men. Modulation by cigarette smoking status
}}

{{PMID Auto
|PMID=22729394
|Title=A non-synonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers
|OA=1
}}

{{ClinVar
|rsid=1801278
|Reversed=1
|FwdREF=G
|FwdALT=A,C,T
|REF=C
|ALT=A,G,T
|RSPOS=227660544
|CHROM=2
|GMAF=0.0536
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x05016800000015051f110105
|GENEINFO=IRS1:3667
|GENE_NAME=IRS1
|GENE_ID=3667
|WGT=0
|VC=SNV
|CLNALLE=3
|CLNHGVS=NC_000002.11:g.227660544C>T
|CLNORIGIN=1
|CLNSIG=255
|Tags=RV;PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM;NOV
|CAF=0.9463; 0.05372
|CLNACC=RCV000022624.1; RCV000022625.1
|CLNDBN=Insulin resistance, susceptibility to; Coronary artery disease, susceptibility to
|CLNDSDB=MedGen
|CLNDSDBID=C1852091; C1840169
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=147545.0002
|COMMON=1
|Disease=Insulin resistance; Coronary artery disease
}}

{{PMID Auto
|PMID=17570749
|Title=Genetic prediction of future type 2 diabetes.
|OA=1
}}

{{PMID Auto
|PMID=18398029
|Title=Genetic polymorphisms involved in insulin-like growth factor (IGF) pathway in relation to mammographic breast density and IGF levels.
}}

{{PMID Auto
|PMID=18398040
|Title=Transcription factor 7-like 2 polymorphism and colon cancer.
|OA=1
}}

{{PMID Auto
|PMID=18599530
|Title=Ser1369Ala variant in sulfonylurea receptor gene ABCC8 is associated with antidiabetic efficacy of gliclazide in Chinese type 2 diabetic patients.
|OA=1
}}

{{PMID Auto
|PMID=18603647
|Title=Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
|OA=1
}}

{{PMID Auto
|PMID=18992148
|Title=Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.
|OA=1
}}

{{PMID Auto
|PMID=18992263
|Title=Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.
|OA=1
}}

{{PMID Auto
|PMID=19843326
|Title=Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriers.
|OA=1
}}

{{PMID Auto
|PMID=19956100
|Title=No association of the IRS1 and PAX4 genes with type I diabetes.
|OA=1
}}

{{PMID Auto
|PMID=19956101
|Title=Overview of the Rapid Response data.
|OA=1
}}

{{PMID Auto
|PMID=19956109
|Title=The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.
|OA=1
}}

{{PMID Auto
|PMID=20416077
|Title=Identification of type 2 diabetes-associated combination of SNPs using support vector machine.
|OA=1
}}

{{PMID Auto
|PMID=21834909
|Title=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
|gene=IRS1
|aa_change=Gly971Arg
|aa_change_short=G971R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1801278
|overall_frequency_n=712
|overall_frequency_d=10758
|overall_frequency=0.0661833
|n_genomes=5
|n_genomes_annotated=0
|n_haplomes=5
|n_articles=0
|n_articles_annotated=0
|pph2_score=0.707
|nblosum100=6
|autoscore=1
|n_web_uneval=9
}}

{{PMID Auto
|PMID=23133645
|Title=The Interactive Effect of SIRT1 Promoter Region Polymorphism on Type 2 Diabetes Susceptibility in the North Indian Population
|OA=1
}}

{{PMID Auto
|PMID=23690305
|Title=Genetic variants and the risk of gestational diabetes mellitus: a systematic review
}}

{{PMID Auto
|PMID=23633196
|Title=Joint effect of insulin signaling genes on insulin secretion and glucose homeostasis
}}

{{PMID Auto
|PMID=24071662
|Title=The IRS1 G972R polymorphism and glomerular filtration rate in patients with type 2 diabetes of European ancestry
}}

{{PMID Auto
|PMID=24371822
|Title=IRS1, TCF7L2, ADRB1, PPARG, and HHEX Polymorphisms Associated with Atherogenic Risk in Mexican Population
|OA=1
}}

{{PMID Auto
|PMID=24493031
|Title=Association of the genetic variants of insulin receptor substrate 1 (IRS-1) with type 2 diabetes mellitus in a Saudi population
}}

{{PMID Auto
|PMID=24589556
|Title=Arg972 insulin receptor substrate-1 polymorphism and risk and severity of Alzheimer's disease
}}

{{PMID Auto
|PMID=24612564
|Title=Association of IRS-1, CAPN10 and PPARG gene polymorphisms with T2DM in the high risk population of Hyderabad, India
}}

{{PMID Auto
|PMID=23107043
|Title=Joint effect of insulin signaling genes on cardiovascular events and on whole body and endothelial insulin resistance.
|OA=1
}}

{{PMID Auto
|PMID=23708959
|Title=Association between insulin receptor substrate 1 Gly972Arg polymorphism and cancer risk.
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}