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J R Soc Med. 2005; 98(Suppl 45): 47–54.
PMCID: PMC1308808

Cystic fibrosis modifier genes.


Since the recognition that CFTR genotype was not a good predictor of pulmonary disease severity in CF, several candidate modifier genes have been identified. It is unlikely that a single modifier gene will be found, but more probable that several haplotypes in combination may contribute, which in itself presents a major methodological challenge. The aims of such studies are to increase our understanding of disease pathogenesis, to aid prognosis and ultimately to lead to the development of novel treatments.

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Selected References

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