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Sensitive

Chronic obstructive pulmonary disease

CCDC91 · rs11049488

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−7, with 1 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 up to 31,465 European ancestry cases, up to 203,688 European ancestry controls, up to 1,413 African ancestry cases, up to 6,080 African ancestry controls, up to 287 East Asian ancestry cases, up to 7,484 East Asian ancestry controls, up to 61 Hispanic cases, up to 613 Hispanic controls.

The effect Each copy of the G allele carried 1.06 times the odds of Chronic obstructive pulmonary disease (95% confidence interval 1.04 -1.08); p = 5 × 10−8.

How common The G allele had a frequency of about 70% in the people studied.

Where it sits Chromosome 12, band 12p11.22 — a missense change in CCDC91.

How common each version is

AG
Korean KRGDB
A 6.0% · G 94.0%
Korean Korea4K
A 6.3% · G 93.7%
Japanese ToMMo
A 6.4% · G 93.6%
World gnomAD
A 20.2% · G 79.8%
World 1000 Genomes
A 12.5% · G 87.5%
World TOPMed
A 18.6% · G 81.4%

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

A/A No copy of the version the research linked to Chronic obstructive pulmonary disease. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Chronic obstructive pulmonary disease. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Chronic obstructive pulmonary disease. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source
A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease
Moll M, Jackson VE, Yu B, Grove ML, London SJ, Gharib SA, Bartz TM, Sitlani CM, Dupuis J, O'Connor GT, Xu H, Cassano PA
and 21 more — show all
Patchen BK, Kim WJ, Park J, Kim KH, Han B, Barr RG, Manichaikul A, Nguyen JN, Rich SS, Lahousse L, Terzikhan N, Brusselle G, Sakornsakolpat P, Liu J, Benway CJ, Hall IP, Tobin MD, Wain LV, Silverman EK, Cho MH, Hobbs BD
American journal of physiology. Lung cellular and molecular physiology · 2021 · PMID 33909500

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Chronic obstructive pulmonary disease (rs11049488). MyGeneLog™. https://www.mygenelog.com/variants/rs11049488

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