MDOCS Newsletter-2016-03-01, 2.5 March/April 2016

Table of Contents with links to live newsletter. Full PDF of the online newsletter available here. MDOCS Newsletter 2.5, March/April 2016 Director\u27s Note: March, 2016 2016 Storytellers\u27 Institute: Walking the Line MDOCS 2016 Fall Course List SSMP Highlight: Skidmore Retiree Project Doc on Campus: Dave DeSario documents Temp Workers\u27 Issues Doc off Campus: Youth FX Faculty Spotlight: Rik Scarce on Video Ethnography and Barefoot Running MDOCS Picks: Serial Reflection

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

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