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C-reactive protein and white blood cell count

HNF1A · rs2393791

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

3 / 4

Its strongest genetic-study result is p = 10⁻¹²⁵, with 23 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 8,722 individuals.

The effect Each copy of the C allele shifted the measure 0.049 mg/dl lower; p = 3 × 10⁻⁹.

How common The C allele had a frequency of about 48% in the people studied.

Where it sits Chromosome 12, band 12q24.31 — in an intron of HNF1A.

How common each version is

CT

Korean KRGDB

C 47.9% · T 52.1%

Korean Korea4K

C 48.1% · T 51.9%

Japanese ToMMo

C 47.6% · T 52.4%

Vietnamese

C 36.8% · T 63.2%

World gnomAD

C 38.5% · T 61.5%

World 1000 Genomes

C 40.6% · T 59.4%

World TOPMed

C 37.9% · T 62.2%

By ancestry gnomAD

East Asian

C 40.1% · T 59.9%

European (non-Finnish)

C 38.9% · T 61.1%

African / African American

C 31.9% · T 68.1%

South Asian

C 52.9% · T 47.1%

Admixed American (Latino)

C 42.0% · T 58.0%

Middle Eastern

C 58.9% · T 41.1%

Finnish

C 45.4% · T 54.6%

Ashkenazi Jewish

C 50.3% · T 49.7%

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

C/C Two copies of the version the research linked to C-reactive protein and white blood cell count. That is the strongest link of the three results. A link in a study is not a diagnosis.

C/T One copy of the version the research linked to C-reactive protein and white blood cell count. That is a smaller link than two copies.

T/T No copy of the version the research linked to C-reactive protein and white blood cell count. This is the starting point the study compared everyone against.

Source

Genetic associations with C-reactive protein level and white blood cell count in the KARE study

Kong M, Lee C

International journal of immunogenetics · 2013 · PMID 22788528

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

C-reactive protein and white blood cell count (rs2393791). MyGeneLog™. https://www.mygenelog.com/variants/rs2393791

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