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rs699

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 2 increased risk of hypertension
(C;T) 2 increased risk of hypertension
(T;T) normal risk of hypertension
ReferenceGRCh38 38.1/141
Chromosome1
Position230710048
GeneAGT
is asnp
is mentioned by
dbSNPrs699
ebirs699
HLIrs699
Exacrs699
Varsomers699
Maprs699
PheGenIrs699
hapmaprs699
1000 genomesrs699
hgdprs699
ensemblrs699
gopubmedrs699
geneviewrs699
scholarrs699
googlers699
pharmgkbrs699
gwascentralrs699
openSNPrs699
23andMers699
23andMe allrs699
SNP Nexus

SNPshotrs699
SNPdbers699
MSV3drs699
GWAS Ctlgrs699
GMAF0.3384
Max Magnitude2
? (C;C) (C;T) (T;T) 28
rs699 is a SNP in the angiotensin AGT gene that encodes a functional change. In most published literature, the name for this SNP is M235T, or perhaps Met235Thr, however its amino acid 268 (not 235) that varies based on the numbering in todays databases. rs699 is also occasionally known as C4072T.

In any case, the rs699(C) allele encodes the threonine variant, which is associated with higher plasma angiotensin levels, and ultimately higher blood pressure leading to increased risk for hypertension associated disorders.

This association was first reported in 1992 [PMID 1394429], and many studies, though not all, have replicated these findings.[PMID 11731937OA-icon.png]

rs699 is also (generally) reported to be in tight linkage with rs5051, a neighboring SNP in the promoter of the AGT gene.

rs699(C) has also been implicated as a risk allele in at least two Caucasian populations for pre-eclampsia (pregnancy-induced hypertension)[PMID 8513325, PMID 8348146] but did not present a risk in one African population [PMID 16059745].

[PMID 19108684] A haplotype of rs4311, rs4343, rs699 increases risk of diabetic nephropathy 4x.

Neighborrs4762
Distance183


Venter snp
Source plos
Gene AGT
allele G
frequency
sift TOLERATED
HuRef 1103675360420
Disease Association Defects in AGT are associated with susceptibility to essential hypertension (MIM:145500). Hypertension also occurs in 5-7% of all pregnancies where it is a leading cause of maternal, fetal and neonatal morbidity and mortality. Among pregnancy- induced hypertension cases, severe preeclampsia (MIM:189800) is characterized by the development of hypertension and proteinuria after the 20th week of pregnancy and is the most distinctive, life-threatening form.



[PMID 18653189] Interaction of gender, hypertension, and the angiotensinogen gene haplotypes on the risk of coronary artery disease in a large angiographic cohort


[PMID 19932491] Angiotensinogen polymorphisms and acquired atrial fibrillation in Chinese


[PMID 20029521] The C allele of the AGT Met235Thr polymorphism is associated with power sports performance


[PMID 20185782OA-icon.png] Renin Angiotensin System Gene Polymorphisms and Cerebral Blood Flow Regulation. The MOBILIZE Boston Study


[PMID 20592051OA-icon.png] Interactions among related genes of renin-angiotensin system associated with type 2 diabetes



[PMID 20570668] Genetic associations with mountain sickness in Han and Tibetan residents at the Qinghai-Tibetan Plateau


[PMID 21261619] Genetic variation in renin predicts the effects of thiazide diuretics

[PMID 21306748OA-icon.png] The association of the angiotensinogen gene with insulin sensitivity in humans: a tagging single nucleotide polymorphism and haplotype approach

OMIM106150
Desc
Variant0001
Relatedalso


[PMID 21988197] Angiotensinogen gene haplotype is associated with the prevalence of Japanese non-alcoholic steatohepatitis


[PMID 22508051] Renin-Angiotensin-aldosterone system gene polymorphisms and coronary artery disease: detection of gene-gene and gene-environment interactions


[PMID 22531885] Revising the M235T Polymorphism Position for the AGT Gene and Reporting a Modifying Variant in the Brazilian Population with Potential Cardiac and Neural Impact


[PMID 22569109OA-icon.png] The role of renin-angiotensin-aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy


ClinVar
Risk rs699(C;C)
Alt rs699(C;C)
Reference rs699(T;T)
Significance Other
Disease Hypertension Preeclampsia Susceptibility to progression to renal failure in IgA nephropathy
Variation info
Gene AGT
CLNDBN Hypertension, essential, susceptibility to Preeclampsia, susceptibility to Susceptibility to progression to renal failure in IgA nephropathy
Reversed 1
HGVS NC_000001.10:g.230845794A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019691.4, RCV000019692.4, RCV000019693.4,



[PMID 18069999] 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.


[PMID 18248681OA-icon.png] Prevalence of common disease-associated variants in Asian Indians.


[PMID 18279468OA-icon.png] Ten renin-angiotensin system-related gene polymorphisms in maximally treated Canadian Caucasian patients with heart failure.


[PMID 18513389OA-icon.png] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.


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


[PMID 18637188OA-icon.png] RAS gene polymorphisms, classical risk factors and the advent of coronary artery disease in the Portuguese population.


[PMID 18698212OA-icon.png] Association of renin-angiotensin and endothelial nitric oxide synthase gene polymorphisms with blood pressure progression and incident hypertension: prospective cohort study.


[PMID 18953568OA-icon.png] Male-female differences in the genetic regulation of t-PA and PAI-1 levels in a Ghanaian population.


[PMID 19131662OA-icon.png] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.


[PMID 19263529OA-icon.png] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.


[PMID 19330901OA-icon.png] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.


[PMID 19559392OA-icon.png] A candidate gene association study of 77 polymorphisms in migraine.


[PMID 20061926] Randomized controlled trial: lisinopril reduces proteinuria, ammonia, and renal polypeptide tubular catabolism in patients with chronic allograft nephropathy.


[PMID 20486282OA-icon.png] Genetic variants in the renin-angiotensin-aldosterone system and salt sensitivity of blood pressure.


[PMID 21304999OA-icon.png] Epistatic interactions in genetic regulation of t-PA and PAI-1 levels in a Ghanaian population.


[PMID 21438754] Gene variation in resistant hypertension: multilocus analysis of the angiotensin 1-converting enzyme, angiotensinogen, and endothelial nitric oxide synthase genes.


GET Evidence
AGT-M268T
aa_change Met268Thr
aa_change_short M268T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.56135
summary



[PMID 23132613] Genetic association studies in pre-eclampsia: systematic meta-analyses and field synopsis


[PMID 23681449] Genes for Elite Power and Sprint Performance: ACTN3 Leads the Way


[PMID 23681285] Association of aldosterone synthase (CYP11B2) gene -344T/C polymorphism with the risk of primary chronic glomerulonephritis in the Polish population


[PMID 23716723] The Relationship Between Angiotensinogen Gene Polymorphisms and Essential Hypertension in a Northern Han Chinese Population


[PMID 24622918] Renin-Angiotensin System Genetic Polymorphisms and Brain White Matter Lesions in Older Australians


[PMID 22858200] Angiotensinogen gene polymorphisms and food-intake behavior in young, normal female subjects in Japan.


[PMID 23021345] Gene-diet interactions on plasma lipid levels in the Inuit population.


[PMID 23251296OA-icon.png] Assessment of two missense polymorphisms (rs4762 and rs699) of the angiotensinogen gene and stroke.


[PMID 23333443] Analysis of polymorphisms and haplotypes in genes associated with vascular tone, hypertension and oxidative stress in Mexican-Mestizo women with severe preeclampsia.


[PMID 23354977] Human loci involved in drug biotransformation: worldwide genetic variation, population structure, and pharmacogenetic implications.


[PMID 24860821OA-icon.png] Gender Specific Association of RAS Gene Polymorphism with Essential Hypertension: A Case-Control Study


[PMID 25020710] P324Circadian genes in the regulation of lipids in coronary artery disease


[PMID 25683681] Positive Association of D Allele of ACE Gene With High Altitude Pulmonary Edema in Indian Population


[PMID 24722536OA-icon.png] Relationship of renin-angiotensin-aldosterone system polymorphisms and phenotypes to mortality in Chinese coronary atherosclerosis patients


[PMID 27480094] Association of interactions between dietary salt consumption and hypertension-susceptibility genetic polymorphisms with blood pressure among Japanese male workers.