Am. J. Respir. Cell Mol. Biol., Volume 23, Number 5, November, 2000 678-686

Polymorphism of Human Mucin Genes in Chest Disease
Possible Significance of MUC2

Lynne E. Vinall, Joanna C. Fowler, Abigail L. Jones, Helen J. Kirkbride, Carme de Bolós, Anne Laine, Nicole Porchet, James R. Gum, Young S. Kim, Fiona M. Moss, David M. Mitchell, and Dallas M. Swallow

MRC Human Biochemical Genetics Unit, The Galton Laboratory, University College London, London, United Kingdom; Unitat de Biologia Cellular I Molecular, Barcelona, Spain; Unite INSERM U377, Lille, France; Veterans Administration Medical Center San Francisco, San Francisco, California; Department of Thoracic Medicine, Central Middlesex Hospital, London; and Chest & Allergy Clinic, St. Mary's NHS Trust, London, United Kingdom

Most of the genes that encode epithelial mucins are highly polymorphic due to variations in the length of domains of tandemly repeated (TR) coding sequence, the part of the apomucin that is heavily glycosylated. We report here for the first time a difference in the distribution of MUC TR length alleles in chest disease. We examined the distribution of the length alleles of those MUC genes whose expression we have confirmed in the bronchial tree in an age- and sex-matched series of 50 pairs of atopic patients with and without asthma. There was no significant difference in the distribution of alleles of MUC1, MUC4, MUC5AC, and MUC5B. MUC2, however, showed a highly significant difference in distribution. The atopic, nonasthmatic individuals showed an allele distribution that was very different from all our other patient and control groups, this group showing a longer mean allele length. The observations suggest that longer MUC2 alleles may help protect atopic individuals from developing asthma, though the effect may be due to a linked gene. The biological significance of this variation with respect to susceptibility to asthma will merit further investigation, and it will also be important to substantiate this finding on an independent data set.

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