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rs5065

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 1.12x risk on diuretic; if hypertensive, better outcome when treated with calcium channel blocker than with diuretic
(A;G) normal risk
(G;G) 0.87x risk on diuretic; if hypertensive, better outcome when treated with diuretic than with calcium channel blocker
ReferenceGRCh38 38.1/141
Chromosome1
Position11846011
GeneNPPA, NPPA-AS1
is asnp
is mentioned by
dbSNPrs5065
ebirs5065
HLIrs5065
Exacrs5065
Varsomers5065
Maprs5065
PheGenIrs5065
hapmaprs5065
1000 genomesrs5065
hgdprs5065
ensemblrs5065
gopubmedrs5065
geneviewrs5065
scholarrs5065
googlers5065
pharmgkbrs5065
gwascentralrs5065
openSNPrs5065
23andMers5065
23andMe allrs5065
SNP Nexus

SNPshotrs5065
SNPdbers5065
MSV3drs5065
GWAS Ctlgrs5065
GMAF0.1396
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs5065, also known as T2238C, is a SNP in the atrial natriuretic precursor A NPPA gene.

A large study has been conducted in which 42,418 hypertensive participants 55 or older were followed for several years while on one of four medications: a diuretic, a calcium antagonist, an angiotensin-converting enzyme inhibitor, or an alpha-blocker. The primary endpoint was either fatal heart disease or a heart attack.[PMID 18212314]

The blood pressure after six months of rs5065(G;G) patients (note: genotype is in dbSNP orientation, not as published) was lower if the patients were treated with diuretics compared to other medications, with smaller variation seen for (A;A) genotypes. The authors noted that none of the findings retained statistical significance after correction for multiple comparisons, but since the trend held in five of seven outcomes, they felt the results were nonetheless worth reporting.

In summary, rs5065(G) allele carriers were better off (i.e. experienced more favorable cardiovascular disease outcomes) if treated with the diuretic (in this case, chlorthalidone), whereas rs5065(A;A) carriers were better off if treated with the calcium channel blocker (in this case, amlodipine).

Neighborrs5067
Distance87
[PMID 20543198OA-icon.png] Evaluation of non-synonymous NPPA single nucleotide polymorphisms in atrial fibrillation



[PMID 22575314] Influence of rs5065 Atrial Natriuretic Peptide Gene Variant on Coronary Artery Disease.


[PMID 17984371] Natriuretic peptide precursor a gene polymorphisms and risk of blood pressure progression and incident hypertension.


[PMID 18294255] A polymorphism in the NPPA gene associates with asthma.


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


[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 19200524OA-icon.png] A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs.


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


[PMID 19326473OA-icon.png] Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting.


[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 20031578OA-icon.png] Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study.


[PMID 21273288OA-icon.png] Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster.


[PMID 21276798] Association of genetic variation in the natriuretic peptide system with cardiovascular outcomes.


[PMID 22170009] Association of 2238T>C polymorphism of the atrial natriuretic peptide gene with coronary artery disease in Afro-Caribbeans with type 2 diabetes.


[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
NPPA-X152R
aa_change Stop152Arg
aa_change_short X152R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.240844
summary



[PMID 24041948OA-icon.png] Atrial Natriuretic Peptide Genetic Variant rs5065 and Risk for Cardiovascular Disease in the General Community: A 9-Year Follow-Up Study


[PMID 24093000OA-icon.png] Atrial Natriuretic Peptide Single Nucleotide Polymorphisms in Patients with Nonfamilial Structural Atrial Fibrillation


ClinVar
Risk rs5065(G;G)
Alt rs5065(G;G)
Reference rs5065(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene NPPA NPPA-AS1
CLNDBN not specified
Reversed 0
HGVS NC_000001.10:g.11906068A>G
CLNSRC
CLNACC RCV000220174.1,