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Corneal curvature

PDGFRA · rs2114039

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.

What the study found

Who was studied 2,008 Chinese ancestry inidividuals, 2,281 Malay ancestry individuals; replicated in 2,142 Asian Indian ancestry individuals, 929 Chinese ancestry children.

The effect Each copy of the C allele shifted the measure 0.129 lower (95% confidence interval 0.07-0.19); p = 1 × 10⁻⁹.

How common The C allele had a frequency of about 30% in the people studied.

Where it sits Chromosome 4, band 4q12 — between genes, 2.7 kb from PDGFRA.

What each result means

C/C Two copies of the version the research linked to Corneal curvature. 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 Corneal curvature. That is a smaller link than two copies.

T/T No copy of the version the research linked to Corneal curvature. This is the starting point the study compared everyone against.

Source

Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore

Han S, Chen P, Fan Q, Khor CC, Sim X, Tay WT, Ong RT, Suo C, Goh LK, Lavanya R, Zheng Y, Wu R

and 10 more — show all

Seielstad M, Vithana E, Liu J, Chia KS, Lee JJ, Tai ES, Wong TY, Aung T, Teo YY, Saw SM

Human molecular genetics · 2011 · PMID 21665993

What people read about alongside this

Short-sightedness and screens5 Gut and food intolerance1

Papers in Europe PMC whose title or abstract names both this rsID and that subject. A shared paper means somebody wrote about the two together — it is not a claim that this position explains the subject.

Questions about rs2114039

What is rs2114039?

rs2114039 is a single position in the genome, in or near the PDGFRA gene. Published research associates it with corneal curvature. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What do people read about alongside rs2114039?

Subjects that appear in the title or abstract of the same papers as this rsID include short-sightedness and screens (5 papers), gut and food intolerance (1 papers). A shared paper means somebody wrote about the two together; it is not a claim that this position explains the topic.

Does having rs2114039 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 rs2114039 come from?

GWAS Catalog, Hum Mol Genet 2011, PMID:21665993. 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.

Corneal curvature (rs2114039). MyGeneLog™. https://www.mygenelog.com/variants/rs2114039

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