title: Association of the Q576R polymorphism in the interleukin-4 receptor alpha chain with indolent mastocytosis limited to the skin.
abstract: Gain-of-function mutations in c-kit, which appear to contribute to mast cell hyperplasia, have been detected in both limited and aggressive forms of mastocytosis, suggesting that other mutations or polymorphisms may contribute to the clinical phenotype. Because addition of interleukin-4 (IL-4) to mast cell cultures is reported to induce apoptosis, the hypothesis was considered that individuals carrying the gain-of-function polymorphism Q576R in the cytoplasmic domain of the alpha-subunit of the IL-4 receptor (IL-4R) might be relatively resistant to the gain-of-function mutation in c-kit. To assess this possibility, 36 patients with either cutaneous or systemic mastocytosis were studied for association with the Q576R polymorphism. The Q576R polymorphism was found more frequently in those with disease limited to skin and who exhibited lower levels of surrogate disease markers. These data suggest that the Q576R IL-4R alpha- chain polymorphism may mitigate disease expression and confer a better prognosis in patients with mastocytosis. (Blood. 2001;98:880-882)
authors.affiliation: Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA.
authors.forename: T
authors.initials: T
authors.lastname: Daley
authors.forename: D D
authors.initials: DD
authors.lastname: Metcalfe
authors.forename: C
authors.initials: C
authors.lastname: Akin
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015415:Biomarkers; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D008415:Mastocytosis / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D008875:Middle Aged; D017354:Point Mutation; D011110:Polymorphism, Genetic / Q000235:genetics*; D011379:Prognosis; D021122:Protein Subunits; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics; D019948:Receptors, Interleukin-4 / Q000235:genetics* / Q000502:physiology; D014582:Urticaria Pigmentosa / Q000175:diagnosis / Q000235:genetics*
chemical_list: D015415:Biomarkers; D021122:Protein Subunits; D019948:Receptors, Interleukin-4; D019009:Proto-Oncogene Proteins c-kit