rs5065
| Orientation | plus |
| Stabilized | plus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 11846011 |
| Gene | NPPA, NPPA-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5065 |
| dbSNP (classic) | rs5065 |
| ClinGen | rs5065 |
| ebi | rs5065 |
| HLI | rs5065 |
| Exac | rs5065 |
| Gnomad | rs5065 |
| Varsome | rs5065 |
| LitVar | rs5065 |
| Map | rs5065 |
| PheGenI | rs5065 |
| Biobank | rs5065 |
| 1000 genomes | rs5065 |
| hgdp | rs5065 |
| ensembl | rs5065 |
| geneview | rs5065 |
| scholar | rs5065 |
| rs5065 | |
| pharmgkb | rs5065 |
| gwascentral | rs5065 |
| openSNP | rs5065 |
| 23andMe | rs5065 |
| SNPshot | rs5065 |
| SNPdbe | rs5065 |
| MSV3d | rs5065 |
| GWAS Ctlg | rs5065 |
| GMAF | 0.1396 |
| Max Magnitude | 0 |
| ? | (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).
[PMID 20543198
] 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 18513389] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.
[PMID 19131662] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
[PMID 19200524] A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs.
[PMID 19263529] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
[PMID 19326473] Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting.
[PMID 19330901] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.
[PMID 19559392] A candidate gene association study of 77 polymorphisms in migraine.
[PMID 20031578] 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 21273288] 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 22388798] 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 24041948] Atrial Natriuretic Peptide Genetic Variant rs5065 and Risk for Cardiovascular Disease in the General Community: A 9-Year Follow-Up Study
[PMID 24093000] 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 | RCV000220174.2, |
[PMID 28275418] Sex Differences of the Natriuretic Peptide Polymorphism Associated With Angiographic Coronary Atherosclerosis.
