rs5065

A SNP in the NPPA gene on chromosome 1. Its most notable genotype is A;A: 1.12x risk on diuretic; if hypertensive, better outcome when treated with calcium channel blocker than with diuretic

Gene
NPPA
Location
Chr 111,846,011 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
14%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableGood1.12x risk on diuretic; if hypertensive, better outcome when treated with calcium channel blocker than with diureticTypical · 0.070% of people
  2. A;GNot ratednormal riskTypical · 0.025% of people
  3. G;GGood0.87x risk on diuretic; if hypertensive, better outcome when treated with diuretic than with calcium channel blockerTypical · 0.05% of people

On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 11 HapMap populations.

  • AverageA;A 70% A;G 25% G;G 5%
  • European ancestry (Utah)A;A 73% A;G 27% G;G <1%
  • Han Chinese (Beijing)A;A 99% A;G <1% G;G 0%
  • Japanese (Tokyo)A;A 97% A;G 3% G;G 0%
  • Yoruba (Nigeria)A;A 33% A;G 46% G;G 21%
  • African ancestry (Southwest US)A;A 37% A;G 53% G;G 11%
  • Chinese (Denver)A;A 99% A;G <1% G;G 0%
  • Gujarati IndianA;A 76% A;G 22% G;G 2%
  • Luhya (Kenya)A;A 45% A;G 46% G;G 10%
  • Mexican ancestry (Los Angeles)A;A 83% A;G 14% G;G 3%
  • Maasai (Kenya)A;A 46% A;G 44% G;G 10%
  • TuscanA;A 78% A;G 22% G;G 0%

Notes

From SNPedia

Show notes, about 200 words

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. 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).

Source and license

Adapted from rs5065 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.