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

rs5051

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal risk
(C;T) increased risk for hypertension
(T;T) increased risk for hypertension
ReferenceGRCh38 38.1/141
Chromosome1
Position230714126
GeneAGT
is asnp
is mentioned by
dbSNPrs5051
ebirs5051
HLIrs5051
Exacrs5051
Varsomers5051
Maprs5051
PheGenIrs5051
hapmaprs5051
1000 genomesrs5051
hgdprs5051
ensemblrs5051
gopubmedrs5051
geneviewrs5051
scholarrs5051
googlers5051
pharmgkbrs5051
gwascentralrs5051
openSNPrs5051
23andMers5051
23andMe allrs5051
SNP Nexus

SNPshotrs5051
SNPdbers5051
MSV3drs5051
GWAS Ctlgrs5051
GMAF0.3356
Max Magnitude0
? (C;C) (C;T) (T;T) 28
rs5051 is a SNP in the promoter of the angiotensin AGT gene, and presumably due to it's tight linkage with rs699, the rs5051(T) allele - as oriented to the dbSNP entry, not as published - has been associated with increased risk for hypertension and complications thereof. rs699(T) is associated with higher plasma angiotensinogen levels, and therefore the increased risk of essential hypertension. The frequency of the rs699(T) allele is also generally higher in African populations compared to Caucasian populations, correlating to the higher incidence of hypertension in African population.[PMID 15077204OA-icon.png]

rs5051 is also known as "A-6G". For more details, see rs699.

rs5051(T;T) homozygotes have been reported to be at increased risk for Crohn's disease, as based on one cohort of ~350 Australian patients. The odds ratio was 2.38 (CI: 1.32-4.32, p=0.007). The authors suggest that association of an AGT SNP with Crohn's disease supports a potential role for angiotensin-converting enzyme inhibitors and angiotensin II receptor antagonists in the treatment of Crohn's disease.[PMID 17047091OA-icon.png]


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

[PMID 16286570] A population association study of angiotensinogen polymorphisms and haplotypes with left ventricular phenotypes.

[PMID 18076107OA-icon.png] Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasis.

[PMID 19105203OA-icon.png] An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3.

[PMID 20808897OA-icon.png] Disease-associated mutations that alter the RNA structural ensemble.

[PMID 22388798OA-icon.png] Gene panels to help identify subgroups at high and low risk of coronary heart disease among those randomized to antihypertensive treatment: the GenHAT study.


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


[PMID 21859746OA-icon.png] Genetic and BMI risks for predicting blood pressure in three generations of West African Dogon women.


[PMID 26142106] Epistatic interaction between common AGT G(-6)A (rs5051) and AGTR1 A1166C (rs5186) variants contributes to variation in kidney size at birth


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