A/ABoth copies carry G551D. In somebody with cystic fibrosis this genotype is directly actionable: the CFTR protein reaches the cell surface but the channel opens poorly, and ivacaftor holds it open. This is one of the few places in medicine where the specific variant, rather than the diagnosis, decides which drug is prescribed.
A/GOne copy carries G551D. This is the carrier state and does not cause cystic fibrosis. G551D is much less common than F508del but it is the best known of the gating variants, and it is the variant that ivacaftor was developed for.
G/GNeither copy carries G551D. The same caution applies as for any single CFTR position: this is not a carrier screen, because the gene has more than two thousand described variants and an array tests a small panel of them.
A gating variant is a channel that arrives where it should and does not work once there. That distinction is the whole reason ivacaftor helps here and not in somebody carrying only F508del, where the protein never reaches the surface at all. Treatment decisions in cystic fibrosis are made in a specialist clinic with confirmed genotyping, not from a raw data file.
Clinical pharmacology and therapeutics · 2014 · PMID 24598717
Questions about rs75527207
What is rs75527207?
rs75527207 is a single position in the genome, in or near the CFTR gene. Published research associates it with cystic fibrosis (g551d, a gating variant). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs75527207 linked to?
On MyGeneLog this position is linked to Cystic Fibrosis. The research behind each link, and its sources, are set out on that condition page.
Does rs75527207 affect how medicines work?
CFTR carries pharmacogenomic findings for Ivacaftor. 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 rs75527207 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 rs75527207 come from?
CPIC Guideline for Ivacaftor Therapy in the Context of CFTR Genotype (Clin Pharmacol Ther 2014, PMID 24598717). Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.