title: Meconium ileus in cystic fibrosis is not linked to central repetitive region length variation in MUC1, MUC2, and MUC5AC.
abstract: BACKGROUND
  Mucins are excellent candidates for contributing to the presence of meconium ileus (MI) in cystic fibrosis (CF) due to their extensive genetic variation and known function in intestinal physiology. The length of variants in mucin central repetitive regions has not been explored as "risk" factors for MI in CF.
  
  
  METHODS
  We investigated the length polymorphisms in the central repetitive regions of MUC1, MUC2, and MUC5AC by Southern blot and tested for association with MI in CF subjects.
  
  
  RESULTS
  No significant associations were found for the allele sizes of any of the genes with respect to the prevalence of MI (p values=0.33, 0.16, and 0.71 for MUC1, MUC2, and MUC5AC, respectively).
  
  
  CONCLUSIONS
  The genetic length variants in the central repetitive region of three MUC genes studied are not associated with MI in subjects with CF.
authors.affiliation: Cystic Fibrosis/Pulmonary Research and Treatment Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
authors.forename: XueLiang
authors.initials: X
authors.lastname: Guo
authors.affiliation: Cystic Fibrosis/Pulmonary Research and Treatment Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
authors.forename: Rhonda G
authors.initials: RG
authors.lastname: Pace
authors.affiliation: Cystic Fibrosis/Pulmonary Research and Treatment Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
authors.forename: Jaclyn R
authors.initials: JR
authors.lastname: Stonebraker
authors.affiliation: Cystic Fibrosis/Pulmonary Research and Treatment Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
authors.forename: Wanda K
authors.initials: WK
authors.lastname: O'Neal
authors.affiliation: Cystic Fibrosis/Pulmonary Research and Treatment Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA. Electronic address: michael_knowles@med.unc.edu.
authors.forename: Michael R
authors.initials: MR
authors.lastname: Knowles
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D003550:Cystic Fibrosis / Q000150:complications / Q000235:genetics*; D005260:Female; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D045823:Ileus / Q000235:genetics*; D008297:Male; D008470:Meconium; D055271:Mucin 5AC / Q000235:genetics*; D018396:Mucin-1 / Q000235:genetics*; D055262:Mucin-2 / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics; D055815:Young Adult
chemical_list: C060192:MUC1 protein, human; C524625:MUC2 protein, human; C524678:MUC5AC protein, human; D055271:Mucin 5AC; D018396:Mucin-1; D055262:Mucin-2
keywords: Genetic modifier; MUC1; MUC2; MUC5AC; Meconium ileus