HI!
I have to say that I don´t agree with Amy when she sais "There isn't because genes don't predict how long you'll live. They simply don't. ".
How can you be so confident on that?? It´s difficult for me to think that a genetic disease progress has nothing to do with the type of gene you have. I know there are some articles where it sais that they couldn´t find that relationship yet. But that doesn´t mean it doesn´t exist. We don´t know much about cf genes yet to say that. Also there are some articles as the following one that don´t agree with that. By these I don´t mean that other things like exercise, chest therapy etc are not importat. I think it´s just a mix of everything.
I really hope a cure will be found soo. Let´s hope denufosol trial goes fine!!<img src="i/expressions/face-icon-small-smile.gif" border="0">
1: Thorax. 2005 Jul;60(7):558-63. Links
Genotype-phenotype correlation for pulmonary function in cystic fibrosis.de Gracia J, Mata F, Alvarez A, Casals T, Gatner S, Vendrell M, de la Rosa D, Guarner L, Hermosilla E.
Department of Pneumology, Hospital general Vall d'Hebron, Barcelona, Spain. jgracia@separ.es
BACKGROUND: Since the CFTR gene was cloned, more than 1000 mutations have been identified. To date, a clear relationship has not been established between genotype and the progression of lung damage. A study was undertaken of the relationship between genotype, progression of lung disease, and survival in adult patients with cystic fibrosis (CF). METHODS: A prospective cohort of adult patients with CF and two CFTR mutations followed up in an adult cystic fibrosis unit was analysed. Patients were classified according to functional effects of classes of CFTR mutations and were grouped based on the CFTR molecular position on the epithelial cell surface (I-II/I-II, I-II/III-V). Spirometric values, progression of lung disease, probability of survival, and clinical characteristics were analysed between groups. RESULTS: Seventy four patients were included in the study. Patients with genotype I-II/I-II had significantly lower current spirometric values (p < 0.001), greater loss of pulmonary function (p < 0.04), a higher proportion of end-stage lung disease (p < 0.001), a higher risk of suffering from moderate to severe lung disease (odds ratio 7.12 (95% CI 1.3 to 40.5)) and a lower probability of survival than patients with genotype I-II/III, I-II/IV and I-II/V (p < 0.001). CONCLUSIONS: <b><u><u>The presence of class I or II mutations on both chromosomes is associated with worse respiratory disease and a lower probability of survival</u></u></b>.
PMID: 15994263 [PubMed - indexed for MEDLINE]
Related LinksEuropean Epidemiologic Registry of Cystic Fibrosis (ERCF): comparison of major disease manifestations between patients with different classes of mutations. [Pediatr Pulmonol. 2001]Genotype-phenotype relationships in a cohort of adult cystic fibrosis patients. [Eur Respir J. 1996]Pancreatitis among patients with cystic fibrosis: correlation with pancreatic status and genotype. [Pediatrics. 2005]Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study. [Lancet. 2003]Cystic fibrosis mutations and genotype-pulmonary phenotype analysis. [J Cyst Fibros. 2006]See all Related Articles...
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Cystic fibrosis mutations and genotype-pulmonary phenotype analysis.
J Cyst Fibros. 2006 Jan; 5(1):33-41. Epub 2005 Nov 4.
