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Primary open angle glaucoma (multi-trait analysis)

ADAMTS6 · rs1363900

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 at least 29,241 European ancestry cases, at least 350,181 European ancestry controls (MTAG boosted by vertical cup-to-disc ratio and intraocular pressure samples), 6,935 Asian ancestry cases, 39,588 Asian ancestry controls, 3,281 African ancestry cases, 2,791 African ancestry controls.

The effect Each copy of the A allele shifted the measure 0.0626 higher (95% confidence interval 0.042-0.084); p = 5 × 10⁻⁹.

Where it sits Chromosome 5, band 5q12.3 — in an intron of ADAMTS6.

How common each version is

AG

Korean KRGDB

A 90.3% · G 9.7%

Korean Korea4K

A 90.2% · G 9.8%

Korean Korea1K

A 89.9% · G 10.1%

Japanese ToMMo

A 92.4% · G 7.6%

Vietnamese

A 87.8% · G 12.2%

World gnomAD

A 84.7% · G 15.3%

World 1000 Genomes

A 87.2% · G 12.8%

World TOPMed

A 84.6% · G 15.4%

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

A/A Two copies of the version the research linked to Primary open angle glaucoma (multi-trait analysis). 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 Primary open angle glaucoma (multi-trait analysis). That is a smaller link than two copies.

G/G No copy of the version the research linked to Primary open angle glaucoma (multi-trait analysis). This is the starting point the study compared everyone against.

Source

Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci

Han X, Gharahkhani P, Hamel AR, Ong JS, Rentería ME, Mehta P, Dong X, Pasutto F, Hammond C, Young TL, Hysi P, Lotery AJ

and 18 more — show all

Jorgenson E, Choquet H, Hauser M, Cooke Bailey JN, Nakazawa T, Akiyama M, Shiga Y, Fuller ZL, Wang X, Wang X, Hewitt AW, Craig JE, Pasquale LR, Mackey DA, Wiggs JL, Khawaja AP, Segrè AV, MacGregor S

23andMe Research Team · International Glaucoma Genetics Consortium

Nature genetics · 2023 · PMID 37386247 · 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

Primary open angle glaucoma (multi-trait analysis) (rs1363900). MyGeneLog™. https://www.mygenelog.com/variants/rs1363900

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