Links from this page to related variants, conditions, drugs and topics are not included for automated readers. Those connections are the Gene Knowledge Graph and are licensed as data: https://www.mygenelog.com/license
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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
1 / 4
Its strongest genetic-study result is p = 10−12, with 3 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 8,284 African American cases, 15,543 African American controls; replicated in 6,061 African American cases, 5,483 African American controls, 8,130 European ancestry cases, 38,987 European ancestry controls.
The effect
Each copy of the A allele carried 1.19 times the odds of Type 2 diabetes (95% confidence interval 1.13-1.24); p = 5 × 10−13.
How common The A allele had a frequency of about 89% in the people studied.
Where it sits Chromosome 11, band 11p15.4 — in an intron of KCNQ1.
How common each version is
AC
By ancestry gnomAD
East Asian
A 62.9% · C 37.1%
European (non-Finnish)
A 92.9% · C 7.1%
African / African American
A 89.0% · C 11.0%
South Asian
A 95.8% · C 4.2%
Admixed American (Latino)
A 77.3% · C 22.7%
Middle Eastern
A 93.5% · C 6.5%
Finnish
A 94.1% · C 5.9%
Ashkenazi Jewish
A 93.1% · C 6.9%
The share of all copies of this position that are each version. 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 Type 2 diabetes. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/COne copy of the version the research linked to Type 2 diabetes. That is a smaller link than two copies.
C/CNo copy of the version the research linked to Type 2 diabetes. This is the starting point the study compared everyone against.
DNA databases also record a third, rare version at this position, carried on fewer than one in a hundred copies of the DNA. The three results above cover the two common versions only.
PLoS genetics · 2014 · PMID 25102180 · open access
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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
Type 2 diabetes (rs2283228). MyGeneLog™. https://www.mygenelog.com/variants/rs2283228