Missense mutations in the cystic fibrosis gene in adult patients with asthma

Conxi Lázaro, Rafael De Cid, Jordi Sunyer, Joan Soriano, Javier Giménez, Mónica Álvarez, Teresa Casals, Josep M. Antó, Xavier P. Estivill

Research output: Contribution to journalArticle

48 Citations (Scopus)

Abstract

Asthma is a complex genetic disorder that affects 5% of adults and 10% of children worldwide. The complete characterization of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified missense mutations in 15% of 144 unrelated adult patients with asthma, but in none of 41 subjects from the general population. The four more common mutations were analyzed in an extended sample consisting of 184 individuals from the general population and did not show a significant difference in frequency. The hyperfunctional CFTR M470 allele was detected in 90% of patients with CFTR missense mutations, but in 63% of subjects from the general population and 63% of asthma patients without CFTR mutations. None of the patients with missense mutations had the 5T allele of intron 8 of CFTR, responsible for low CFTR levels, while it was detected in 8% of asthma patients without CFTR mutations and in 9% of subjects from the general population. These findings suggest a putative role for a combination of CFTR missense mutations, including the M470 allele, in the genetic variability of asthma.

Original languageEnglish
Pages (from-to)510-519
Number of pages10
JournalHuman Mutation
Volume14
Issue number6
DOIs
Publication statusPublished - 1999
Externally publishedYes

Fingerprint

Cystic Fibrosis Transmembrane Conductance Regulator
Missense Mutation
Cystic Fibrosis
Asthma
Genes
Alleles
Mutation
Population
Inborn Genetic Diseases
Regulator Genes
Introns

Keywords

  • Asthma
  • CFTR
  • Cystic fibrosis
  • Missense mutations

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Missense mutations in the cystic fibrosis gene in adult patients with asthma. / Lázaro, Conxi; De Cid, Rafael; Sunyer, Jordi; Soriano, Joan; Giménez, Javier; Álvarez, Mónica; Casals, Teresa; Antó, Josep M.; Estivill, Xavier P.

In: Human Mutation, Vol. 14, No. 6, 1999, p. 510-519.

Research output: Contribution to journalArticle

Lázaro, C, De Cid, R, Sunyer, J, Soriano, J, Giménez, J, Álvarez, M, Casals, T, Antó, JM & Estivill, XP 1999, 'Missense mutations in the cystic fibrosis gene in adult patients with asthma', Human Mutation, vol. 14, no. 6, pp. 510-519. https://doi.org/10.1002/(SICI)1098-1004(199912)14:6<510::AID-HUMU10>3.0.CO;2-O
Lázaro, Conxi ; De Cid, Rafael ; Sunyer, Jordi ; Soriano, Joan ; Giménez, Javier ; Álvarez, Mónica ; Casals, Teresa ; Antó, Josep M. ; Estivill, Xavier P. / Missense mutations in the cystic fibrosis gene in adult patients with asthma. In: Human Mutation. 1999 ; Vol. 14, No. 6. pp. 510-519.
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