CFTR Gene

What is the CFTR gene?

CFTR encodes cystic fibrosis transmembrane conductance regulator, a protein involved in chloride ion channel / airway surface liquid. It belongs to the Respiratory category and is part of the Respiratory & Lung Function biological cluster. CFTR encodes the CFTR chloride channel essential for airway surface liquid regulation and mucociliary clearance.

Biological role and pathway

CFTR is involved in the chloride ion channel / airway surface liquid pathway, which plays a central role in regulating physiological processes relevant to immune defence, cellular energy, and systemic homeostasis. Genes within the Respiratory & Lung Function cluster work together to maintain balanced function across interconnected biological systems.

Variants in genes within this pathway may influence an individual's predisposition to altered function in these systems — particularly under conditions of physiological stress such as viral infection or prolonged illness.

Known genetic variants

The following variants (SNPs) in the CFTR gene have been studied in relation to respiratory and chronic illness. Each variant represents a single nucleotide position where individuals may carry different alleles.

• rs113993960— CFTR variant
• rs75527207— CFTR variant
• rs1800095— CFTR variant

Conditions studied in relation to CFTR

Research into CFTR variants has explored associations with the following conditions. These are areas of scientific investigation and do not imply that CFTR causes or treats any condition.

Genetic insights from DNA data

Consumer DNA files from 23andMe, AncestryDNA, and MyHeritage contain raw SNP data. When you upload your file to ChronicDNA, the analysis engine checks your genotype against a curated panel of 80+ genes selected for their relevance to Long COVID, ME/CFS, and connected biological pathways - some of which may include CFTR and related genes in the respiratory & lung function pathway.

The report is educational - it explains which variants you carry, what the research says about them, and how they fit into the biological pathways most relevant to chronic illness. Results are presented in plain English with appropriate scientific context, no medical jargon, no scare tactics. All results should be discussed with a qualified healthcare provider.

Related genes in the Respiratory & Lung Function pathway

CFTR does not act in isolation. The following genes are functionally related and may be analysed together for a more complete picture of your genetic predispositions.

Frequently asked questions