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Who was studied 853 Chinese ancestry cases, 6,248 Chinese ancestry controls.
The effect
Each copy of the T allele carried 3.20 times the odds of Keratoconus (95% confidence interval 2.207-4.63); p = 8 × 10−10.
How common The T allele had a frequency of about 1% in the people studied.
Where it sits Chromosome 16, band 16q22.1 — a missense change in CHTF8.
What each result means
C/CNo copy of the version the research linked to Keratoconus. This is the starting point the study compared everyone against.
C/TOne copy of the version the research linked to Keratoconus. That is a smaller link than two copies.
T/TTwo copies of the version the research linked to Keratoconus. That is the strongest link of the three results. A link in a study is not a diagnosis.
rs3743680 is a single position in the genome, in or near the CHTF8 gene. Published research associates it with keratoconus. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs3743680 linked to?
On MyGeneLog this position is linked to Keratoconus. The research behind each link, and its sources, are set out on that condition page.
Does having rs3743680 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 rs3743680 come from?
GWAS Catalog, Investigative ophthalmology & visual science 2024, PMID:38767907. 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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