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Primary open angle glaucoma (MTAG)

ITPR2 · rs7137713

Where this position leads

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).

The effect Each copy of the T allele shifted the measure 0.0592 lower (95% confidence interval 0.041-0.077); p = 2 × 10⁻¹⁰.

Where it sits Chromosome 12, band 12p11.23 — in an intron of ITPR2.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of Primary open angle glaucoma (MTAG) — no copies of the reported risk allele.

C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Primary open angle glaucoma (MTAG).

T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Primary open angle glaucoma (MTAG) compared to the general population.

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

Questions about rs7137713

What is rs7137713?

rs7137713 is a single position in the genome, in or near the ITPR2 gene. Published research associates it with primary open angle glaucoma (mtag). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs7137713 linked to?

On MyGeneLog this position is linked to Glaucoma. The research behind each link, and its sources, are set out on that condition page.

Does having rs7137713 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 rs7137713 come from?

GWAS Catalog, Nature genetics 2023, PMID:37386247. 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.

Primary open angle glaucoma (MTAG) (rs7137713). MyGeneLog™. https://www.mygenelog.com/variants/rs7137713

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