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Angiotensin-converting enzyme inhibitor intolerance

RBFOX3 · rs2061538

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 972 European ancestry intolerant individuals, 4,189 European ancestry tolerant individuals.

The effect Each copy of the G allele carried 1.53 times the odds of Angiotensin-converting enzyme inhibitor intolerance (95% confidence interval 1.324419-1.762525); p = 6 × 10⁻⁹.

How common The G allele had a frequency of about 16% in the people studied.

Where it sits Chromosome 17, band 17q25.3 — in an intron of RBFOX3.

How common each version is

AG

Korean KRGDB

A 19.0% · G 81.0%

Korean Korea4K

A 18.6% · G 81.4%

Korean Korea1K

A 18.6% · G 81.4%

Vietnamese

A 34.0% · G 66.0%

World gnomAD

A 16.4% · G 83.6%

World 1000 Genomes

A 19.3% · G 80.7%

World TOPMed

A 16.2% · G 83.8%

By ancestry gnomAD

East Asian

A 22.5% · G 77.5%

European (non-Finnish)

A 16.9% · G 83.1%

African / African American

A 15.6% · G 84.4%

South Asian

A 23.7% · G 76.3%

Admixed American (Latino)

A 13.3% · G 86.7%

Middle Eastern

A 8.5% · G 91.5%

Finnish

A 14.3% · G 85.7%

Ashkenazi Jewish

A 15.6% · G 84.4%

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. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

A/A No copy of the version the research linked to Angiotensin-converting enzyme inhibitor intolerance. This is the starting point the study compared everyone against.

A/G One copy of the version the research linked to Angiotensin-converting enzyme inhibitor intolerance. That is a smaller link than two copies.

G/G Two copies of the version the research linked to Angiotensin-converting enzyme inhibitor intolerance. That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Meta-analysis of genome-wide association studies on the intolerance of angiotensin-converting enzyme inhibitors

Mahmoudpour SH, Veluchamy A, Siddiqui MK, Asselbergs FW, Souverein PC, de Keyser CE, Hofman A, Lang CC, Doney AS, Stricker BH, de Boer A, Maitland-van der Zee AH

and 1 more — show all

Palmer CN

PREDICTION-ADR consortium

Pharmacogenetics and genomics · 2017 · PMID 28030426

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

Angiotensin-converting enzyme inhibitor intolerance (rs2061538). MyGeneLog™. https://www.mygenelog.com/variants/rs2061538

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