rs1800469

A SNP in the TGFB1 gene on chromosome 19. Its most notable genotype is G;G: lower TGF-β1 levels, higher risk for COPD?

Gene
TGFB1
Location
Chr 1941,354,391 (GRCh38)
Highest magnitude
1.0Minor
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
36%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GMost notableNot ratedlower TGF-β1 levels, higher risk for COPD?Minor · 1.045% of people
  2. A;GNot ratedslightly higher TGF-β1 levels, higher risk for COPD?Minor · 1.040% of people
  3. A;ANot ratedhigher TGF-β1 levelsMinor · 1.015% of people

SNPedia records rs1800469 on the minus strand: (C;C), (C;T), (T;T). 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.

  • AverageG;G 45% A;G 40% A;A 15%
  • European ancestry (Utah)G;G 53% A;G 36% A;A 11%
  • Han Chinese (Beijing)G;G 29% A;G 47% A;A 24%
  • Japanese (Tokyo)G;G 29% A;G 50% A;A 20%
  • Yoruba (Nigeria)G;G 58% A;G 33% A;A 9%
  • African ancestry (Southwest US)G;G 66% A;G 29% A;A 5%
  • Chinese (Denver)G;G 20% A;G 41% A;A 39%
  • Gujarati IndianG;G 39% A;G 45% A;A 17%
  • Luhya (Kenya)G;G 62% A;G 32% A;A 6%
  • Mexican ancestry (Los Angeles)G;G 38% A;G 50% A;A 12%
  • Maasai (Kenya)G;G 65% A;G 31% A;A 4%
  • TuscanG;G 37% A;G 45% A;A 18%

Conditions, medicines and genes

Other TGFB1 SNPs

All TGFB1 SNPs

Notes

From SNPedia

Show notes, about 330 words

rs1800469, also known as -509 C>T, C509T or −1347 C>T, is an SNP in the promoter region of the transforming growth factor beta1 TGFB1 gene. That means it doesn't change the nature of the TGF-β1 protein, but it does change the amount produced. The T version increases the amount of TGF-β1 produced, by preventing AP1 from binding to this region where in the C version it would normally downregulate production. That increased TGF-β1 production with the T version is probably what causes all the health effects of this SNP. Whether increased TGF-β1 is good or bad probably depends on the disease you are interested in. It has been associated with increased risk for chronic obstructive pulmonary disease (COPD). Although smoking is the main risk factor, smokers with a rs1800469(C) allele (or 2 other TGFB1 SNPs, rs1982073 and rs2241712) were more likely to develop COPD, based on a study of ~700 Caucasian subjects Although based on a relatively small number of patients, a 2018 study concluded that women with breast cancer receiving radiation who carry a rs1800469(T) allele are at ~4x higher risk of radiation-induced fibrosis (scarring) and related poor cosmetic outcomes compared to women who are rs1800469(C;C). {{PMID Auto |PMID=19258388 |Title=Genetic variation in the transforming growth factor-{beta}1 gene is associated with susceptibility to IgA nephropathy |OA=1}} {{PMID Auto |PMID=19380441 |Title=Single Nucleotide Polymorphism at rs1982073:T869C of the TGF{beta}1 Gene Is Associated With the Risk of Radiation Pneumonitis in Patients With Non-Small-Cell Lung Cancer Treated With Definitive Radiotherapy |OA=1 }}

G;G

This normal C version significantly reduces TGF-β1 levels by allowing AP1 to downregulate TGF-β1 production.

A;G

The T version, which this (C;T) has one of, increases TGF-β1 levels by preventing AP1 from downregulating TGF-β1 production. But it won't be as high as in the rarer T;T combination.

A;A

Higher TGF-β1 levels by preventing AP1 from downregulating TGF-β1 production.

Source and license

Adapted from rs1800469 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.