Standard

Post bronchodilator FEV1

CHRNB4 · rs11639372

Where this position leads

Condition: Pulmonary Function (Lung Capacity)

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10⁻⁵², with 6 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10⁻⁵⁰. 2: ClinVar from one lab (1 star), or p ≤ 10⁻²⁰. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10⁻⁸). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 10,094 European ancestry current and former smoker individuals, 3,260 African American current and former smoker individuals, 178 current and former smoker individuals.

The effect Each copy of the T allele shifted the measure 0.055 lower; p = 5 × 10⁻⁹.

How common The T allele had a frequency of about 38% in the people studied.

Where it sits Chromosome 15, band 15q25.1 — in an intron of CHRNB4.

How common each version is

CT

Korean KRGDB

C 98.2% · T 1.8%

Korean Korea4K

C 98.3% · T 1.7%

Korean Korea1K

C 98.5% · T 1.5%

Japanese ToMMo

C 97.8% · T 2.2%

Vietnamese

C 98.6% · T 1.4%

World gnomAD

C 70.3% · T 29.7%

World 1000 Genomes

C 80.4% · T 19.6%

World TOPMed

C 71.2% · T 28.8%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.

What each result means

C/C No copy of the version the research linked to Post bronchodilator FEV1. This is the starting point the study compared everyone against.

C/T One copy of the version the research linked to Post bronchodilator FEV1. That is a smaller link than two copies.

T/T Two copies of the version the research linked to Post bronchodilator FEV1. That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry

Lutz SM, Cho MH, Young K, Hersh CP, Castaldi PJ, McDonald ML, Regan E, Mattheisen M, DeMeo DL, Parker M, Foreman M, Make BJ

and 12 more — show all

Jensen RL, Casaburi R, Lomas DA, Bhatt SP, Bakke P, Gulsvik A, Crapo JD, Beaty TH, Laird NM, Lange C, Hokanson JE, Silverman EK

ECLIPSE Investigators · COPDGene Investigators

BMC genetics · 2015 · PMID 26634245 · open access

Questions about rs11639372

What is rs11639372?

rs11639372 is a single position in the genome, in or near the CHRNB4 gene. Published research associates it with post bronchodilator fev1. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs11639372 linked to?

On MyGeneLog this position is linked to Pulmonary Function (Lung Capacity). The research behind each link, and its sources, are set out on that condition page.

Does having rs11639372 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 rs11639372 come from?

GWAS Catalog, BMC Genet 2015, PMID:26634245. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Post bronchodilator FEV1 (rs11639372). MyGeneLog™. https://www.mygenelog.com/variants/rs11639372

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