Annotation of rs75527207

Allele A is associated with increased response to ivacaftor.

as compared to baseline. In vitro assays using transfected Fisher Rat Thyroid cells expressing CFTR. Before treatment, cells were activated by exposure to PKA and ATP before ivacaftor treatment. In vitro assays using transfected Fisher Rat Thyroid cells expressing CFTR. Cells expressing G551D-CFTR (rs75527207 allele A) responded to ivacaftor treatment with a significantly enhanced channel open probability and increased chloride transport. Single channel current amplitude at 80mV was not significantly enhanced.

From Publication

Ivacaftor potentiation of multiple CFTR channels with gating mutations. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society. 2012. Yu Haihui et al.
PMID:22293084(opens in new window) DOI:10.1016/j.jcf.2011.12.005(opens in new window)

Gene

CFTR

Variant

rs75527207
Rare VariantLearn more about rare variants(opens in new window)

Phenotype Category

Efficacy

Association Significance

The study reports this association is significant

ID

981755787

Score

This annotation is not used for clinical annotation scoring.

Evidence for Summary Annotations

This annotation has been used as evidence for the following summary annotations.

  1. rs75527207 (CFTR); ivacaftor; Cystic Fibrosis (level 1A Efficacy)

Study Parameters

Study type

Association p-value

< 0.05

Population description

Study Cohort: In vitro assays. Responses measured: channel open probability, single channel current amplitude at 80mV, chloride transport.

Note: Alleles in ClinPGx are mapped to the positive chromosomal strand. Therefore, variants in genes on the "minus" strand (eg. VKORC1) are complemented in ClinPGx annotations.

History

No history available.