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Intraocular pressure

ANPEP · rs1042499

Where this position leads

Condition: Glaucoma

rs1042499 Condition: Glaucoma Glaucoma Condition rs1042499 rs1042499 ANPEP

What the study found

Who was studied 115,486 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.22 lower (95% confidence interval 0.16-0.28); p = 3 × 10−13.

How common The T allele had a frequency of about 94% in the people studied.

Where it sits Chromosome 15, band 15q26.1 — in the 3′ untranslated region of ANPEP.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of Intraocular pressure — 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 Intraocular pressure.
T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Intraocular pressure compared to the general population.
Source
Genome-wide association analyses identify new loci influencing intraocular pressure
Gao XR, Huang H, Nannini DR, Fan F, Kim H
Human molecular genetics · 2018 · PMID 29617998

Questions about rs1042499

What is rs1042499?

rs1042499 is a single position in the genome, in or near the ANPEP gene. Published research associates it with intraocular pressure. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs1042499 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 rs1042499 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 rs1042499 come from?

GWAS Catalog, Hum Mol Genet 2018, PMID:29617998. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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