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Sensitive

Response to bronchodilator in chronic obstructive pulmonary disease (change in FEV1)

CDH13 · rs114132812

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 = 10−8, 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 5,766 European ancestry cases, 811 African American cases.

The effect Each copy of the A allele shifted the measure 7.63 higher (95% confidence interval 5.04-10.22); p = 1 × 10−8.

How common The A allele had a frequency of about 98% in the people studied.

Where it sits Chromosome 16, band 16q23.3 — in an intron of CDH13.

How common each version is

AT
World gnomAD
A 99.5% · T 0.5%
World 1000 Genomes
A 99.7% · T 0.3%
World TOPMed
A 99.4% · T 0.6%

By ancestry gnomAD

European (non-Finnish)
A 100.0%
African / African American
A 98.3% · T 1.7%
Admixed American (Latino)
A 99.8%

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. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races. No Korean figure for this position yet.

What each result means

A/A Two copies of the version the research linked to Response to bronchodilator in chronic obstructive pulmonary disease (change in FEV1). That is the strongest link of the three results. A link in a study is not a diagnosis.
A/T One copy of the version the research linked to Response to bronchodilator in chronic obstructive pulmonary disease (change in FEV1). That is a smaller link than two copies.
T/T No copy of the version the research linked to Response to bronchodilator in chronic obstructive pulmonary disease (change in FEV1). This is the starting point the study compared everyone against.
Source
A genome-wide analysis of the response to inhaled β2-agonists in chronic obstructive pulmonary disease
Hardin M, Cho MH, McDonald ML, Wan E, Lomas DA, Coxson HO, MacNee W, Vestbo J, Yates JC, Agusti A, Calverley PM, Celli B
and 13 more — show all
Crim C, Rennard S, Wouters E, Bakke P, Bhatt SP, Kim V, Ramsdell J, Regan EA, Make BJ, Hokanson JE, Crapo JD, Beaty TH, Hersh CP
ECLIPSE and COPDGene Investigators · COPDGene Investigators—clinical centers
The pharmacogenomics journal · 2016 · PMID 26503814 · open access

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

Response to bronchodilator in chronic obstructive pulmonary disease (change in FEV1) (rs114132812). MyGeneLog™. https://www.mygenelog.com/variants/rs114132812

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