CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity

Carol J. Blaisdell, Timothy D. Howard, Augustus Stern, Penelope Bamford, Eugene R. Bleecker, O. Colin Stine

Research output: Contribution to journalArticle

Abstract

Background: Cystic fibrosis (CF) lung disease manifest by impaired chloride secretion leads to eventual respiratory failure. Candidate genes that may modify CF lung disease severity include alternative chloride channels. The objectives of this study are to identify single nucleotide polymorphisms (SNPs) in the airway epithelial chloride channel, CLC-2, and correlate these polymorphisms with CF lung disease. Methods: The CLC-2 promoter, intron 1 and exon 20 were examined for SNPs in adult CF dF508/ dF508 homozygotes with mild and severe lung disease (forced expiratory volume at one second (FEV1) > 70% and <40%). Results: PCR amplification of genomic CLC-2 and sequence analysis revealed 1 polymorphism in the hClC -2 promoter, 4 in intron 1, and none in exon 20. Fisher's analysis within this data set, did not demonstrate a significant relationship between the severity of lung disease and SNPs in the CLC-2 gene. Conclusions: CLC-2 is not a key modifier gene of CF lung phenotype. Further studies evaluating other phenotypes associated with CF may be useful in the future to assess the ability of CLC-2 to modify CF disease severity.

Original languageEnglish (US)
Article number26
JournalBMC Medical Genetics
Volume5
DOIs
StatePublished - Oct 26 2004
Externally publishedYes

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Cystic Fibrosis
Single Nucleotide Polymorphism
Lung Diseases
Chloride Channels
Introns
Exons
Modifier Genes
Phenotype
Forced Expiratory Volume
Homozygote
Respiratory Insufficiency
Genes
Sequence Analysis
Polymerase Chain Reaction
Lung

ASJC Scopus subject areas

  • Medicine(all)
  • Genetics(clinical)
  • Genetics

Cite this

Blaisdell, C. J., Howard, T. D., Stern, A., Bamford, P., Bleecker, E. R., & Stine, O. C. (2004). CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity. BMC Medical Genetics, 5, [26]. https://doi.org/10.1186/1471-2350-5-26

CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity. / Blaisdell, Carol J.; Howard, Timothy D.; Stern, Augustus; Bamford, Penelope; Bleecker, Eugene R.; Stine, O. Colin.

In: BMC Medical Genetics, Vol. 5, 26, 26.10.2004.

Research output: Contribution to journalArticle

Blaisdell, Carol J. ; Howard, Timothy D. ; Stern, Augustus ; Bamford, Penelope ; Bleecker, Eugene R. ; Stine, O. Colin. / CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity. In: BMC Medical Genetics. 2004 ; Vol. 5.
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