title: Copy number variation of beta-defensins and relevance to disease.
abstract: Beta-defensins are multifunctional proteins that have an important role in the innate immune system. A cluster of beta-defensin genes shows common and extensive variation in copy number in humans. This copy number has been associated with differing susceptibility to Crohn's disease and psoriasis. In this review, I summarise what is currently known about copy number variation (CNV) of beta-defensins, and discuss practical considerations when studying these genes, and copy number variation in general. I also suggest future directions for research, with an emphasis on improvement of methods for accurately typing CNV.
authors.affiliation: Department of Genetics, University of Leicester, Leicester, UK. ejh33@leicester.ac.uk
authors.forename: E J
authors.initials: EJ
authors.lastname: Hollox
mesh_terms: D000818:Animals; D004194:Disease / Q000235:genetics*; D018628:Gene Dosage / Q000235:genetics*; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D023083:beta-Defensins / Q000235:genetics* / Q000378:metabolism
chemical_list: D023083:beta-Defensins