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Endometriosis

WNT4 · rs12037376

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 = 10−16, with 9 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 14,926 European ancestry cases, 189,715 European ancestry controls, 2,119 Japanese ancestry cases, 2,143 Japanese ancestry controls.

The effect The reported allele is A; the catalogue records no effect size ; p = 9 × 10−17.

How common The A allele had a frequency of about 17% in the people studied.

Where it sits Chromosome 1, band 1p36.12 — in an intron of WNT4.

How common each version is

AG

By ancestry gnomAD

East Asian
A 51.1% · G 48.9%
European (non-Finnish)
A 15.1% · G 84.9%
African / African American
A 3.4% · G 96.7%
South Asian
A 21.7% · G 78.3%
Admixed American (Latino)
A 24.6% · G 75.4%
Middle Eastern
A 6.5% · G 93.5%
Finnish
A 15.5% · G 84.5%
Ashkenazi Jewish
A 7.5% · G 92.5%

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/A Two copies of the version the research linked to Endometriosis. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to Endometriosis. That is a smaller link than two copies.
G/G No copy of the version the research linked to Endometriosis. 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.
Source
Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism
Sapkota Y, Steinthorsdottir V, Morris AP, Fassbender A, Rahmioglu N, De Vivo I, Buring JE, Zhang F, Edwards TL, Jones S, O D, Peterse D
and 30 more — show all
Rexrode KM, Ridker PM, Schork AJ, MacGregor S, Martin NG, Becker CM, Adachi S, Yoshihara K, Enomoto T, Takahashi A, Kamatani Y, Matsuda K, Kubo M, Thorleifsson G, Geirsson RT, Thorsteinsdottir U, Wallace LM, Yang J, Velez Edwards DR, Nyegaard M, Nyegaard M, Low SK, Zondervan KT, Missmer SA, D'Hooghe T, Montgomery GW, Chasman DI, Stefansson K, Tung JY, Nyholt DR
iPSYCH-SSI-Broad Group
Nature communications · 2017 · PMID 28537267 · open access

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

Endometriosis (rs12037376). MyGeneLog™. https://www.mygenelog.com/variants/rs12037376

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