Cytokine genotyping (TNF and IL-10) in patients with celiac disease and selective IgA deficiency

F. Cataldo, D. Lio, V. Marino, L. Scola, A. Crivello, A. M. Mulè, G. R. Corazza, C. Catassi, E. Fabiani, M. Baldassarre, L. Corvaglia, R. Lazzari, M. Spina, S. Guandalini, L. Pensabene, S. Brusa, T. Gentile, G. Barera, C. Bianchi, F. ReaP. Di Stefano, M. A. Trippiedi, P. Greco, A. Di Sabatino, A. M. Pelli, M. Barbato, M. Bonamico, F. Viola, A. M. Ambruzzi, M. R. D'Altilia, S. Musumeci, N. Ansaldi, L. Bramante, C. Sategna-Guidetti, G. Nassimbeni, A. Ventura

Research output: Contribution to journalArticlepeer-review


Selective IgA deficiency (IgAD) and celiac disease (CD) are frequently associated and share the ancestral haplotype human leukocyte antigen (HLA)-8.1, which is characterized by a peculiar cytokine profile. The aim of this study was to evaluate the role of tumor necrosis factor (TNF) and interleukin (IL)-10 alleles in CD and CD-IgAD. METHODS: The distribution of some biallelic polymorphisms of both cytokine promoters (-308G→A and -863C→-A at TNF promoter sequence and -1082G→A, -819C→A, and -592C→T at IL-10 promoter) were typed using biotilinated specific probes in 32 celiac patients, in 34 CD-IgAD patients, and in 96 healthy controls. RESULTS: In CD and CD-IgAD, the -308A allele was significantly more frequent than in controls, whereas no significant differences were observed for the biallelic polymorphisms at the -863 and for the three IL-10 promoter polymorphisms. The evaluation of combined TNF and IL-10 genotypes showed in CD-IgAD a significant reduction of -308G/- 1082G homozygous subjects and both in CD and CD-IgAD groups an increase of 308AA/1082GG. Accordingly, CD-IgAD patients positive both for -308A TNF and - 1082A IL-10 showed an increase of TNF-α and a reduction of IL-10 serum levels. CONCLUSIONS: Genetically determined increased production of TNF-α and reduction of IL-10 may be relevant for susceptibility to CD, mainly in IgAD, as the different allele expression at TNF and IL-10 loci seems to influence cytokine production profile.

Original languageEnglish
Pages (from-to)850-856
Number of pages7
JournalAmerican Journal of Gastroenterology
Issue number4
Publication statusPublished - Apr 1 2003

ASJC Scopus subject areas

  • Gastroenterology


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