Increased resistance to influenza as a possible source of heterozygote advantage in cystic fibrosis

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Abstract

Cystic fibrosis is the most common lethal or semi-lethal genetic disease in Caucasians of Central European origin, among whom it is inherited as an autosomal recessive trait at a frequency approximately 10 times that expected from recurrent mutation alone. A decreased sialic acid content has been observed in cell surface glycoproteins on cystic fibrosis fibroblasts and in numerous soluble glycoprotein preparations from cystic fibrosis homozygotes. Sialic acid residues on cell surface glycoconjugates play an essential role in the binding and infectivity of myxoviruses and paramyxoviruses, including those causing pandemic influenza. It is suggested that increased resistance to these viruses conferred by similar but quantitatively smaller alterations in sialoglycoconjugate structure in cystic fibrosis heterozygotes may have provided a selective advantage to maintain the high frequency of the cystic fibrosis gene in Caucasian populations.

Original languageEnglish (US)
Pages (from-to)661-667
Number of pages7
JournalMedical Hypotheses
Volume5
Issue number6
DOIs
StatePublished - Jun 1979
Externally publishedYes

Bibliographical note

Funding Information:
This paper was prepared during the tenure of a grant from the Cystic Fibrosis Foundation.

Copyright:
Copyright 2014 Elsevier B.V., All rights reserved.

Keywords

  • Cystic Fibrosis
  • Heterozygote
  • Influenza
  • Myxoviruses
  • Paramyxoviruses
  • Sialoglycoproteins

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