rs975278

A SNP in the SERPINE2 gene on chromosome 2. Its most notable genotype is T;T: 1.5x higher risk for emphysema, higher in smokers

Gene
SERPINE2
Location
Chr 2223,982,990 (GRCh38)
Highest magnitude
1.5Minor
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
31%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableBad1.5x higher risk for emphysema, higher in smokersMinor · 1.513% of people
  2. C;TNot ratedNo summary available.Typical · 0.040% of people
  3. C;CNot ratednormalTypical · 0.047% of people

SNPedia records rs975278 on the minus strand: (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.

  • AverageT;T 13% C;T 40% C;C 47%
  • European ancestry (Utah)T;T 3% C;T 23% C;C 74%
  • Han Chinese (Beijing)T;T 28% C;T 48% C;C 24%
  • Japanese (Tokyo)T;T 35% C;T 46% C;C 20%
  • Yoruba (Nigeria)T;T 10% C;T 43% C;C 48%
  • African ancestry (Southwest US)T;T 9% C;T 42% C;C 49%
  • Chinese (Denver)T;T 29% C;T 45% C;C 26%
  • Gujarati IndianT;T 11% C;T 53% C;C 37%
  • Luhya (Kenya)T;T 11% C;T 35% C;C 55%
  • Mexican ancestry (Los Angeles)T;T 2% C;T 31% C;C 67%
  • Maasai (Kenya)T;T 5% C;T 39% C;C 57%
  • TuscanT;T 4% C;T 31% C;C 65%

Conditions, medicines and genes

Notes

From SNPedia

Notes

rs975278 is a SNP in the SERPINE2 gene. A study involving 1,335 consecutive autopsies of elderly Japanese people found emphysema of more than moderate degree in 189 subjects and among 12 examined SNPs, found that only rs975278 was positively associated (with emphysema).rs975278(A;A) individuals were associated with emphysema (odds ratio 1.54, CI: 1.02-2.30, p = 0.037) and the association was more prominent in smokers (odds ratio 2.02, CI: 1.29-3.15, p = 0.002).

Source and license

Adapted from rs975278 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.