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About CF » CFTR mutations » The correlation between CFTR mutations and disease severity » Modifier genes

Modifier genes

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Introduction

CF disease severity was originally thought to be only influenced by the type of CFTR mutation. It is now known that other genes interact with CFTR to modify the clinical outcome – so called ‘modifier genes’.1-3

Genetic modifiers of CF disease

Although dozens of candidate modifier genes have been identified, only a few have been substantiated in groups of more than 1000 patients with CF.1

 

This diagram shows some recognised genetic modifiers of CF. CFM1, cystic fibrosis modifier; HLA-II, MHC class II antigen; MBL2, mannose-binding lectin (protein C) 2; NOS1, nitric oxide synthase 1; TGFB1, transforming growth factor-a1; TNFA, tumour necrosis factor-a encoding gene. [Adapted from Bandano et al.2]
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References
  1. Cutting GR. Ann N Y Acad Sci 2010;1214:57–69
  2. Badano JL & Katsanis N. Nat Rev Genet 2002;3:779–89
  3. Zielenski J. Respiration 2000;67:117–33