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J Cyst Fibros. 2014 Dec;13(6):613-6. doi: 10.1016/j.jcf.2014.05.005. Epub 2014 Jun 8.

Meconium ileus in cystic fibrosis is not linked to central repetitive region length variation in MUC1, MUC2, and MUC5AC.

Author information

  • 1Cystic Fibrosis/Pulmonary Research and Treatment Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  • 2Cystic 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.

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.

Copyright © 2014 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

KEYWORDS:

Genetic modifier; MUC1; MUC2; MUC5AC; Meconium ileus

PMID:
24920497
[PubMed - in process]
PMCID:
PMC4253052
[Available on 2015-12-01]
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