Occurrence and clinical relevance of an interleukin-4 gene polymorphism in patients with multiple sclerosis

Koen Vandenbroeck, Gianvito Martino, Maria G. Marrosu, Consiglio Antonella Consiglio, Mauro Zaffaroni, Simona Vaccargiu, Diego Franciotta, Martino Ruggeri, Giancarlo Comi, Luigi M E Grimaldi

Research output: Contribution to journalArticlepeer-review


An epistatic gene interaction has been advocated to explain disease susceptibility in multiple sclerosis (MS). Cytokine genes are possible candidates due to the central role played by cytokines in the regulation of the immune-mediated pathogenetic process leading to central nervous system demyelination in these patients. Since interleukin (IL)-4 gene polymorphisms have been associated with immune-mediated diseases, we have analysed the relationship between a variable number of tandem repeat polymorphism of the IL-4 gene and clinical and physiological features of 256 sporadic MS patients and 146 healthy controls. Genotype frequencies were similar between the MS group and healthy controls. However, in MS patients a positive and significant correlation (r = 0.91; p <0.001) was found between the carriage rate of the IL-4 B1 allele (from 0.21 to 0.36) and age of disease onset. No association was found between IL-4 alleles and disease progression, sex or ethnic background of the patients. Our results show that the IL-4 B1 allele is associated with late onset of MS and therefore might represent a modifier of age of onset rather than a susceptibility factor for patients with MS.

Original languageEnglish
Pages (from-to)189-192
Number of pages4
JournalJournal of Neuroimmunology
Issue number1-2
Publication statusPublished - Jun 1997


  • Genetic susceptibility
  • Interleukin-4
  • Multiple sclerosis
  • Polymorphism

ASJC Scopus subject areas

  • Immunology
  • Clinical Neurology
  • Immunology and Allergy
  • Neurology


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