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Free Cholesterol to Cholesteryl Esters in Small HDL ratio

CFTR · rs145380885

Where this position leads

Condition: Age-Related Macular Degeneration

Drugs: Elexacaftor/tezacaftor/ivacaftor (Trikafta), Ivacaftor, Vanzacaftor/tezacaftor/deutivacaftor (Alyftrek)

rs145380885 Condition: Age-Related Macular Degeneration Age-Related Macular Degeneration Condition Drug: Elexacaftor/tezacaftor/ivacaftor (Trikafta) Elexacaftor/tezacaftor/ivacaftor (T… Drug Drug: Ivacaftor Ivacaftor Drug Drug: Vanzacaftor/tezacaftor/deutivacaftor (Alyftrek) Vanzacaftor/tezacaftor/deutivacafto… Drug rs145380885 rs145380885 CFTR

What the study found

Who was studied 98,316 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.212 higher (95% confidence interval 0.15-0.27); p = 2 × 10−11.

How common The C allele had a frequency of about 1% in the people studied.

Where it sits Chromosome 7, band 7q31.2 — in an intron of CFTR.

What each result means

C/C Two copies of the version the research linked to Free Cholesterol to Cholesteryl Esters in Small HDL ratio. 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 Free Cholesterol to Cholesteryl Esters in Small HDL ratio. That is a smaller link than two copies.
T/T No copy of the version the research linked to Free Cholesterol to Cholesteryl Esters in Small HDL ratio. This is the starting point the study compared everyone against.
Source

Questions about rs145380885

What is rs145380885?

rs145380885 is a single position in the genome, in or near the CFTR gene. Published research associates it with free cholesterol to cholesteryl esters in small hdl ratio. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs145380885 linked to?

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

Does rs145380885 affect how medicines work?

CFTR carries pharmacogenomic findings for Elexacaftor/tezacaftor/ivacaftor (Trikafta), Ivacaftor, Vanzacaftor/tezacaftor/deutivacaftor (Alyftrek). That is educational information, not a prescription or a dosing guide. Any decision to start, stop or change a medicine belongs with the clinician or pharmacist managing your treatment.

Does having rs145380885 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 rs145380885 come from?

GWAS Catalog, Ophthalmology science 2024, PMID:39091897. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Free Cholesterol to Cholesteryl Esters in Small HDL ratio (rs145380885). MyGeneLog™. https://www.mygenelog.com/variants/rs145380885

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