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Smoking status (heavy vs never)

PITX2 · rs11729080

What the study found

Who was studied 24,457 European ancestry heavy smokers, 24,474 European ancestry never smokers.

The effect Each copy of the G allele carried 1.10 times the odds of Smoking status (heavy vs never) (95% confidence interval 1.06-1.14); p = 5 × 10−8.

How common The G allele had a frequency of about 83% in the people studied.

Where it sits Chromosome 4, band 4q25 — between genes, 30.5 kb from RPL36AP23.

What each result means

A/A Published research associates this genotype with typical/baseline likelihood of Smoking status (heavy vs never) — no copies of the reported risk allele.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Smoking status (heavy vs never).
G/G Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Smoking status (heavy vs never) compared to the general population.
Source

Questions about rs11729080

What is rs11729080?

rs11729080 is a single position in the genome, in or near the PITX2 gene. Published research associates it with smoking status (heavy vs never). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs11729080 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs11729080 come from?

GWAS Catalog, Lancet Respir Med 2015, PMID:26423011. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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