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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
2 / 4
Its strongest genetic-study result is p = 10−28, with 5 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 201,529 European ancestry individuals; replicated in up to 140,886 European ancestry individuals.
The effect
Each copy of the A allele shifted the measure 0.499 mm Hg lower (95% confidence interval 0.4-0.6); p = 1 × 10−23.
How common The A allele had a frequency of about 16% in the people studied.
Where it sits Chromosome 1, band 1p36.22 — in an intron of MTHFR.
How common each version is
AG
KoreanKRGDB
A 10.5% · G 89.5%
KoreanKorea4K
A 10.1% · G 89.9%
KoreanKorea1K
A 10.4% · G 89.6%
Japanese ToMMo
A 10.3% · G 89.7%
Vietnamese
A 25.0% · G 75.0%
World gnomAD
A 17.4% · G 82.6%
World 1000 Genomes
A 16.1% · G 83.9%
World TOPMed
A 17.1% · G 82.9%
By ancestry gnomAD
East Asian
A 12.6% · G 87.5%
European (non-Finnish)
A 15.9% · G 84.1%
African / African American
A 23.1% · G 76.9%
South Asian
A 20.0% · G 80.0%
Admixed American (Latino)
A 12.1% · G 87.9%
Middle Eastern
A 12.9% · G 87.1%
Finnish
A 16.2% · G 83.8%
Ashkenazi Jewish
A 9.4% · G 90.6%
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/ATwo copies of the version the research linked to Diastolic blood pressure. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/GOne copy of the version the research linked to Diastolic blood pressure. That is a smaller link than two copies.
G/GNo copy of the version the research linked to Diastolic blood pressure. This is the starting point the study compared everyone against.
Nature genetics · 2016 · PMID 27618452 · open access
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