Sensitive

Systemic lupus erythematosus

JAZF1 · rs12531540

Where this position leads

Conditions: Systemic Lupus Erythematosus, Chronic Rhinosinusitis with Nasal Polyps

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10⁻⁸, with 2 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 5,201 European ancestry cases, 9,066 European ancestry controls.

The effect Each copy of the C allele carried 1.15 times the odds of Systemic lupus erythematosus; p = 3 × 10⁻⁸.

Where it sits Chromosome 7, band 7p15.1 — in an intron of JAZF1.

How common each version is

CT

Korean KRGDB

C 99.6% · T 0.4%

Korean Korea4K

C 99.7% · T 0.4%

Korean Korea1K

C 99.8% · T 0.2%

Japanese ToMMo

C 99.9% · T 0.1%

Vietnamese

C 98.1% · T 1.9%

World gnomAD

C 64.5% · T 35.5%

World 1000 Genomes

C 79.0% · T 21.0%

World TOPMed

C 66.1% · T 33.9%

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.

What each result means

C/C Two copies of the version the research linked to Systemic lupus erythematosus. 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 Systemic lupus erythematosus. That is a smaller link than two copies.

T/T No copy of the version the research linked to Systemic lupus erythematosus. This is the starting point the study compared everyone against.

Source

Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus

Bentham J, Morris DL, Graham DSC, Pinder CL, Tombleson P, Behrens TW, Martín J, Fairfax BP, Knight JC, Chen L, Replogle J, Syvänen AC

and 6 more — show all

Rönnblom L, Graham RR, Wither JE, Rioux JD, Alarcón-Riquelme ME, Vyse TJ

Nature genetics · 2015 · PMID 26502338 · open access

Questions about rs12531540

What is rs12531540?

rs12531540 is a single position in the genome, in or near the JAZF1 gene. Published research associates it with systemic lupus erythematosus. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs12531540 linked to?

On MyGeneLog this position is linked to Systemic Lupus Erythematosus, Chronic Rhinosinusitis with Nasal Polyps. The research behind each link, and its sources, are set out on that condition page.

Does having rs12531540 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 rs12531540 come from?

GWAS Catalog, Nat Genet 2015, PMID:26502338. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Systemic lupus erythematosus (rs12531540). MyGeneLog™. https://www.mygenelog.com/variants/rs12531540

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