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Chronic spontaneous urticaria

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 430 Han Chinese ancestry cases, 482 Han Chinese ancestry controls; replicated in 800 Han Chinese ancestry cases, 900 Han Chinese ancestry controls.

The effect Each copy of the C allele carried 1.41 times the odds of Chronic spontaneous urticaria (95% confidence interval 1.26-1.58); p = 6 × 10⁻⁹.

How common The C allele had a frequency of about 31% in the people studied.

Where it sits Chromosome 6, band 6p22.1 — in an intron of POLR1HASP.

What each result means

A/A No copy of the version the research linked to Chronic spontaneous urticaria. This is the starting point the study compared everyone against.

A/C One copy of the version the research linked to Chronic spontaneous urticaria. That is a smaller link than two copies.

C/C Two copies of the version the research linked to Chronic spontaneous urticaria. That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

GWAS of Chronic Spontaneous Urticaria Reveals Genetic Overlap with Autoimmune Diseases, Not Atopic Diseases

Zhang L, Qiu L, Wu J, Qi Y, Gao X, He C, Qi R, Wang H, Yao X, Zhu H, Li Y, Hao S

and 33 more — show all

Lu Q, Long H, Lian S, Zhu W, Zhang H, Lai W, Su X, Lu R, Guo Z, Li J, Li M, Liu Q, Wang H, He L, Nong X, Li F, Li Y, Yao C, Xu J, Tang H, Wang D, Li Z, Yu H, Xiao S, An J, Pu X, Yu S, Zhang J, Chen X, Wang H, Huang W, Chen H, Xiao T

The Journal of investigative dermatology · 2023 · PMID 35933036

Questions about rs9378141

What is rs9378141?

rs9378141 is a single position in the genome, in or near the POLR1HASP gene. Published research associates it with chronic spontaneous urticaria. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs9378141 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs9378141 come from?

GWAS Catalog, The Journal of investigative dermatology 2023, PMID:35933036. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Chronic spontaneous urticaria (rs9378141). MyGeneLog™. https://www.mygenelog.com/variants/rs9378141

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