{{Rsnum
|rsid=5186
|Gene=AGTR1
|Chromosome=3
|position=148742201
|Orientation=plus
|GMAF=0.1575
|Gene_s=AGTR1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
}}
[[rs5186]], a SNP known as +1166A/C or A1166C, is located in the 3' untranslated region of the angiotensin II receptor type 1 gene [[AGTR1]], which is also known as AT2R1 or AT1R. It is among the most studied of over 50 SNPs in [[AGTR1]].

The [[rs5186]](C) allele is associated with increased risk for essential [[hypertension]] in Caucasian populations with an odds ratio of 7.3 (homozygote (C;C) compared to (A;C) and (A;A), CI: 1.9-31.9,p=0.0015).[PMID 8021009, PMID 9084931] There are likely to be ethnic differences in risk; while the [[rs5186]](C) allele was associated with hypertension in a Chinese population {{PMID|11793845}}, it was not been observed as a risk in a Japanese population.{{PMID|12627871}} Age and gender may also influence risk, as discussed in a review of [[AGTR1]] SNPs and their role in hypertension and related disorders.{{PMID|15640279}}

Pregnant women who are [[rs5186]](C) allele carriers are more likely to develop pregnancy-induced [[hypertension]].{{PMID|11208365}}

However, [[rs5186]] does not appear to modify risk for developing coronary heart disease (CHD). A literature-based meta-analysis of studies published before June 2008 and totaling over 20,000 CHD cases concluded that there were no significant associations among the larger sample-size and high-quality studies.{{PMID|20732682}}

Allele frequency:
*C @ chr3:148459988: 21.5% (985/4584) in EVS
*C @ chr3:149942677: 19.5% (25/128) in GET-Evidence
*Frequency shown in summary reports: 21.5% (985/4584)

[GET-Evidence http://evidence.pgp-hms.org/rs5186]

{{PMID Auto
|PMID=19330904
|Title=Genetic polymorphisms of the angiotensin II type 1 receptor gene and diastolic heart failure.
}}

{{omim
|desc=ANGIOTENSIN RECEPTOR 1; AGTR1
|id=106165
|rsnum=5186
}}

{{omim
|desc=MICRO RNA 155; MIRN155
|id=609337
|rsnum=5186
}}
{{PMID Auto
|PMID=19619703
|Title=Association of genetic variants with the metabolic syndrome in 20,806 white women: The women's health genome study
|OA=1
}}
{{PMID Auto
|PMID=19954723
|Title=The A1166C polymorphism of angiotensin II Type 1 receptor as a predictor of renal function decline over 4 years follow-up in an apparently healthy Chinese population
}}

{{PharmGKB
|RSID=rs5186
|Name_s=AGTR1:116A>C, AT(1)R A1166C
|Gene_s=AGTR1
|Feature=3' UTR
|Evidence=PubMed ID:11250978
|Annotation=In the REGRESS study of 885 Dutch male patients with stable coronary artery disease, patients who carried both the ACE:I/D DD genotype and AGTR1:116A>C CC genotype had significantly more ischaemic events during the two year follow up than those carrying other genotype combinations.
|Drugs=pravastatin
|Drug Classes=
|Diseases=Coronary Artery Disease
|Curation Level=Curated
|PharmGKB Accession ID=PA165107178
}}

{{PMID Auto
|PMID=20864943
|Title=Early Inflammatory and Metabolic Changes in Association With AGTR1 Polymorphisms in Prehypertensive Subjects
|OA=1
}}

{{PharmGKB
|RSID=rs5186
|Name_s=AGTR1:A1166C
|Gene_s=AGTR1
|Feature=3' UTR
|Evidence=PubMed ID:12215254; PubMed ID:12975417; PubMed ID:15863668; PubMed ID:17586411
|Annotation=Linked to increased risk for development of hypertension, coronary disease, and stroke.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA161145029
}}

{{PharmGKB
|RSID=rs5186
|Name_s=AGTR1:1166A/C
|Gene_s=AGTR1
|Feature=3' UTR
|Evidence=PubMed ID:17668390
|Annotation=AGTR1:1166A, but not AGTR1:1166C, is down-regulated by microRNA MIRN155 in vitro. This may explain the reported association of the C allele with hypertension.
|Drugs=
|Drug Classes=
|Diseases=Hypertension
|Curation Level=Curated
|PharmGKB Accession ID=PA162355580
}}

{{PharmGKB
|RSID=rs5186
|Name_s=AGTR1:1166A>C, angiotensin II type 1 receptor A1166C
|Gene_s=AGTR1
|Feature=3' UTR
|Evidence=PubMed ID:11593098
|Annotation=Angiotensin II type 1 receptor polymorphism AGTR1:1166A>C was not related to the response to antihypertensives in the SILVHIA study of 86 white hypertensive patients.
|Drugs=atenolol; losartan
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA165107174
}}
{{PMID Auto
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|Title=Genetic associations with mountain sickness in Han and Tibetan residents at the Qinghai-Tibetan Plateau
}}

{{PMID Auto
|PMID=21671168
|Title=Association of polymorphisms in angiotensin II receptor genes with aldosterone-producing adenoma
}}

{{PMID Auto
|PMID=21722816
|Title=Contribution of Deletion in Angiotensin-converting Enzyme But Not A1166C Angiotensin II Type-1 Receptor Gene Polymorphisms to Clinical Outcomes in Atherothrombotic Disease
}}

{{PMID Auto
|PMID=22508051
|Title=Renin-Angiotensin-aldosterone system gene polymorphisms and coronary artery disease: detection of gene-gene and gene-environment interactions
}}

{{PMID Auto
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|Title=The role of renin-angiotensin-aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy
|OA=1
}}

{{PMID Auto
|PMID=22645060
|Title=Association study of angiotensin II type 1 receptor: A1166C (rs5186) polymorphism with coronary heart disease using systematic meta-analysis
}}

{{PMID Auto
|PMID=16175505
|Title=Identification of four gene variants associated with myocardial infarction.
|OA=1
}}

{{PMID Auto
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|Title=No association between variants in the ACE and angiotensin II receptor 1 genes and acute mountain sickness in Nepalese pilgrims to the Janai Purnima Festival at 4380 m.
}}

{{PMID Auto
|PMID=17207964
|Title=Epistatic effects of polymorphisms in genes from the renin-angiotensin, bradykinin, and fibrinolytic systems on plasma t-PA and PAI-1 levels.
|OA=1
}}

{{PMID Auto
|PMID=17211857
|Title=Quantitated transcript haplotypes (QTH) of AGTR1, reduced abundance of mRNA haplotypes containing 1166C (rs5186:A>C), and relevance to metabolic syndrome traits.
}}

{{PMID Auto
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|Title=Renin-angiotensin and endothelial nitric oxide synthase gene polymorphisms are not associated with the risk of incident type 2 diabetes mellitus: a prospective cohort study.
}}

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|OA=1
}}

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|OA=1
}}

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|OA=1
}}

{{PMID Auto
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|Title=New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.
|OA=1
}}

{{PMID Auto
|PMID=18637188
|Title=RAS gene polymorphisms, classical risk factors and the advent of coronary artery disease in the Portuguese population.
|OA=1
}}

{{PMID Auto
|PMID=18641512
|Title=Angiotensin II type 1 receptor polymorphisms and susceptibility to hypertension: a HuGE review.
}}

{{PMID Auto
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|Title=Association of renin-angiotensin and endothelial nitric oxide synthase gene polymorphisms with blood pressure progression and incident hypertension: prospective cohort study.
|OA=1
}}

{{PMID Auto
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|Title=Male-female differences in the genetic regulation of t-PA and PAI-1 levels in a Ghanaian population.
|OA=1
}}

{{PMID Auto
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|Title=A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
|OA=1
}}

{{PMID Auto
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|OA=1
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{{PMID Auto
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|Title=MicroRNA polymorphisms: the future of pharmacogenomics, molecular epidemiology and individualized medicine.
|OA=1
}}

{{PMID Auto
|PMID=19330901
|Title=Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.
|OA=1
}}

{{PMID Auto
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|Title=Determination of genetic predisposition to patent ductus arteriosus in preterm infants.
|OA=1
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{{PMID Auto
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|Title=dbSMR: a novel resource of genome-wide SNPs affecting microRNA mediated regulation.
|OA=1
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{{PMID Auto
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|Title=Development of a fingerprinting panel using medically relevant polymorphisms.
|OA=1
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|OA=1
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|OA=1
}}

{{PMID Auto
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|Title=Genetic variation in angiotensin-converting enzyme-related pathways associated with sudden cardiac arrest risk.
|OA=1
}}

{{PMID Auto
|PMID=20308035
|Title=Common genetic variation, residential proximity to traffic exposure, and left ventricular mass: the multi-ethnic study of atherosclerosis.
|OA=1
}}

{{PMID Auto
|PMID=20428464
|Title=MicroRNA polymorphisms: a giant leap towards personalized medicine.
|OA=1
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{{PMID Auto
|PMID=20486282
|Title=Genetic variants in the renin-angiotensin-aldosterone system and salt sensitivity of blood pressure.
|OA=1
}}

{{PMID Auto
|PMID=20565774
|Title=Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
|OA=1
}}

{{PMID Auto
|PMID=21304999
|Title=Epistatic interactions in genetic regulation of t-PA and PAI-1 levels in a Ghanaian population.
|OA=1
}}

{{PMID Auto
|PMID=21316998
|Title=A polymorphism in the angiotensin II type 1 receptor gene has different effects on the risk of diabetic nephropathy in men and women.
}}

{{PMID Auto
|PMID=21346624
|Title=Interactive effect of angiotensin II type 1 receptor (AGT1R) polymorphisms and plasma irbesartan concentration on antihypertensive therapeutic responses to irbesartan.
}}

{{PMID Auto
|PMID=21771600
|Title=A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia.
}}

{{PMID Auto
|PMID=21799445
|Title=Genetic variants in the renin-angiotensin-aldosterone system and blood pressure responses to potassium intake.
}}

{{PMID Auto
|PMID=22433249
|Title=Genetic polymorphisms located in TGFB1, AGTR1, and VEGFA genes are associated to chronic renal allograft dysfunction.
}}

{{PMID Auto
|PMID=22664914
|Title=MicroRNA-mediated regulation of gene expression is affected by disease-associated SNPs within the 3'-UTR via altered RNA structure.
|OA=1
}}

{{PMID Auto
|PMID=17588946
|Title=The human angiotensin II type 1 receptor +1166 A/C polymorphism attenuates microrna-155 binding.
|OA=1
}}

{{PMID Auto
|PMID=23081748
|Title=ACACβ gene (rs2268388) and AGTR1 gene (rs5186) polymorphism and the risk of nephropathy in Asian Indian patients with type 2 diabetes
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Low clinical importance, Likely pathogenic
|inheritance=undefined
|quality_scores=Array
|dbsnp_id=rs5186
|overall_frequency_n=985
|overall_frequency_d=4584
|overall_frequency=0.214878
|n_genomes=17
|n_genomes_annotated=0
|n_haplomes=21
|n_articles=6
|n_articles_annotated=6
|qualityscore_in_silico=0
|qualityscore_in_vitro=2
|qualitycomment_in_vitro=Y
|qualityscore_case_control=3
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=4
|qualitycomment_severity=Y
|qualityscore_treatability=4
|qualitycomment_treatability=Y
|in_pharmgkb=Y
|autoscore=1
|webscore=N
|variant_evidence=0
|clinical_importance=1
|summary_short=This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs.
}}

{{PMID Auto
|PMID=23132613
|Title=Genetic association studies in pre-eclampsia: systematic meta-analyses and field synopsis
}}

{{PMID Auto
|PMID=23339167
|Title=Single nucleotide polymorphisms in G protein signaling pathway genes in preeclampsia.
}}

{{PMID Auto
|PMID=24801553
|Title=Analysis of multiple genetic polymorphisms in aggressive-growing and slow-growing abdominal aortic aneurysms
}}

{{PMID Auto
|PMID=24860821
|Title=Gender Specific Association of RAS Gene Polymorphism with Essential Hypertension: A Case-Control Study
}}

{{PMID Auto
|PMID=24978482
|Title=Polymorphisms in genes of the renin-angiotensin-aldosterone system and renal cell cancer risk: Interplay with hypertension and intakes of sodium, potassium and fluid
}}

{{PMID Auto
|PMID=24981111
|Title=Impact of the AGTR1 A1166C polymorphism on subcortical hyperintensities and cognition in healthy older adults
}}

{{PMID Auto
|PMID=25020710
|Title=P324Circadian genes in the regulation of lipids in coronary artery disease
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}