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

rs4343

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2 usually the ACE Alu insertion; better endurance vs strength;
(G;G) 2 usually the ACE Alu deletion; better strength vs endurance;
Make rs4343(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position63488670
GeneACE
is asnp
is mentioned by
dbSNPrs4343
ebirs4343
HLIrs4343
Exacrs4343
Varsomers4343
Maprs4343
PheGenIrs4343
hapmaprs4343
1000 genomesrs4343
hgdprs4343
ensemblrs4343
gopubmedrs4343
geneviewrs4343
scholarrs4343
googlers4343
pharmgkbrs4343
gwascentralrs4343
openSNPrs4343
23andMers4343
23andMe allrs4343
SNP Nexus

SNPshotrs4343
SNPdbers4343
MSV3drs4343
GWAS Ctlgrs4343
GMAF0.3815
Max Magnitude2
? (A;A) (A;G) (G;G) 28

A and G alleles of rs4343 are strongly associated marking insertion and deletion alleles of ACE I/D respectively. For those looking for the ACE Alu Insertion/Deletion, this is a very good substitute for people searching for ACE Del16. G would mean deletion.

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


[PMID 19956428OA-icon.png] Angiotensin-converting enzyme levels and activity in Alzheimer's disease: differences in brain and CSF ACE and association with ACE1 genotypes


GWAS snp
PMID [PMID 20066004]
Trait Angiotensin-converting enzyme activity
Title A genome-wide association study identifies new loci for ACE activity: potential implications for response to ACE inhibitor
Risk Allele G
P-val 3E-25
Odds Ratio 16.20 [NR] % variance


[PMID 20639399] Association between angiotensin converting enzyme G2350A polymorphism and hypertension risk: a meta-analysis



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


[PMID 14986105] Common variants of ACE contribute to variable age-at-onset of Alzheimer's disease.


[PMID 17173513] 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 17460369] Angiotensin-converting enzyme gene 2350 G/A polymorphism is associated with left ventricular hypertrophy but not essential hypertension.


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


[PMID 18194558OA-icon.png] A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples.


[PMID 18431000] Haplotypes across ACE and the risk of Alzheimer's disease: the three-city study.


[PMID 18622756] An alternative method for genotyping of the ACE I/D polymorphism.


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


[PMID 18698231OA-icon.png] Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.


[PMID 18805939OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.


[PMID 18813964OA-icon.png] Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta.


[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 19291311OA-icon.png] ACE I/D genotype, adiposity, and blood pressure in children.


[PMID 19539712] An age effect on the association of common variants of ACE with Alzheimer's disease.


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


[PMID 20565774OA-icon.png] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.


[PMID 20625269] Amyloid-beta-Related Genes SORL1 and ACE are Genetically Associated With Risk for Late-onset Alzheimer Disease in the Chinese Population.


[PMID 20682755OA-icon.png] A pilot study of gene/gene and gene/environment interactions in Alzheimer disease.


[PMID 21258267] Angiotensin-converting enzyme tag single nucleotide polymorphisms in patients with intracerebral hemorrhage.


[PMID 21297258OA-icon.png] A multi-center study of ACE and the risk of late-onset Alzheimer's disease.


[PMID 21709586] Common variants of the ACE gene and aneurysmal subarachnoid hemorrhage in a Danish population: a case-control study.


[PMID 21832968] Pharmacogenetic predictors of angiotensin-converting enzyme inhibitor-induced cough: the role of ACE, ABO, and BDKRB2 genes.


[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.


GET Evidence
rs4343
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.56135
summary



[PMID 23065222] Association of angiotensin-converting enzyme gene 2350 G/A polymorphism with diabetic retinopathy in Chinese Han population.


[PMID 24851853] Angiotensin-converting enzyme gene polymorphisms and risk for sporadic Alzheimer's disease: a meta-analysis


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

GWAS snp
PMID [PMID 24625756OA-icon.png]
Trait Serum metabolite levels
Title Genetic determinants influencing human serum metabolome among African Americans.
Risk Allele G
P-val 9E-25
Odds Ratio .22 [NR] unit increase
GWAS snp
PMID [PMID 24816252OA-icon.png]
Trait Blood metabolite ratios
Title An atlas of genetic influences on human blood metabolites.
Risk Allele A
P-val 1E-37
Odds Ratio .06 [0.049-0.069] unit decrease


[PMID 26242120] [Relevant Research on ACE Gene Single Nucleotide Polymorphisms and Premature Coronary Heart Disease Patients with Blood Stasis Syndrome]


[PMID 26403748] [Association between angiotensin-converting enzyme gene polymorphism and Alzheimer's disease]


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


[PMID 26823847] Association of angiotensin-converting enzyme gene polymorphisms with Crohn's disease in a Chinese Han population.