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rs4762

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 normal risk
(C;T) 1.9x risk for pre-eclampsia
(T;T) >1.9x risk for pre-eclampsia
ReferenceGRCh38 38.1/141
Chromosome1
Position230710231
GeneAGT
is asnp
is mentioned by
dbSNPrs4762
ebirs4762
HLIrs4762
Exacrs4762
Varsomers4762
Maprs4762
PheGenIrs4762
hapmaprs4762
1000 genomesrs4762
hgdprs4762
ensemblrs4762
gopubmedrs4762
geneviewrs4762
scholarrs4762
googlers4762
pharmgkbrs4762
gwascentralrs4762
openSNPrs4762
23andMers4762
23andMe allrs4762
SNP Nexus

SNPshotrs4762
SNPdbers4762
MSV3drs4762
GWAS Ctlgrs4762
GMAF0.1038
Max Magnitude0
? (C;C) (C;T) (T;T) 28
rs4762, a SNP in the angiotensin II AGT gene, has been reported to be associated with increased risk for developing pre-eclampsia, based on a study of ~180 French-Canadian women. The odds ratio associated with the rs4762(T) allele (encoding methionine) was 1.9 (CI:1.2–2.9, p=0.0033).[PMID 14638622]

Note that rs4762 is commonly referred to in the literature as "T174M" or "Thr174Met"; however, databases now indicate that the amino acid that varies is #207 (not 174), as the protein is currently numbered.

rs4762 was also reported to play the major role in the 2.1 fold increased risk (CI: 1.4-3.4, p=0.0008) for pre-eclampsia of the rs3889728(A)-rs4762(T)-rs699(C) haplotype.[PMID 14638622]

Neighborrs699
Distance183


Venter snp
Source plos
Gene AGT
allele A
frequency 0.075
sift AFFECT FUNCTION
HuRef 1103675360421
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 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 18196181OA-icon.png] Correction of population stratification in large multi-ethnic association studies.

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

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

[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 19587357OA-icon.png] A systematic meta-analysis of genetic association studies for diabetic retinopathy.


GET Evidence
AGT-T207M
aa_change Thr207Met
aa_change_short T207M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.107827
summary



[PMID 23594830] Angiotensinogen Polymorphisms and Post-Transplantation Diabetes Mellitus in Korean Renal Transplant Subjects


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


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


[PMID 23648704OA-icon.png] Allele-specific expression of angiotensinogen in human subcutaneous adipose tissue.


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


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