Interleukin-4/interleukin-4 receptor gene polymorphisms in hand osteoarthritis

M. Vargiolu, T. Silvestri, E. Bonora, P. Dolzani, L. Pulsatelli, O. Addimanda, L. Mancarella, L. Punzi, A. Fioravanti, A. Facchini, G. Romeo, R. Meliconi

Research output: Contribution to journalArticlepeer-review


Objective: IL-13/IL-4/IL-4R system has strong chondroprotective activity. We investigated polymorphisms in these genes as potential hand osteoarthritis (OA) susceptibility loci by performing a case-control association study. Methods: Eighteen common single nucleotide polymorphisms (SNPs) (nine in IL-4R, five in IL-4 and four in IL-13) were genotyped in 403 patients (380 females) with hand OA and 322 healthy controls (308 females). Results: Two SNPs (rs1805013 and rs1805015), mapping to the IL-4R gene, were associated with P-values of 0.0116 and 0.0305 respectively in the whole sample. As far as the non-erosive hand OA group (n= 159) is concerned, the significance level of association of SNP rs1805013 is increased. After correction for multiple testing (correction for the 54 tests) the significance was not retained.None of the IL-13 SNPs analyzed showed association with hand OA. Some of the analyzed SNP within the IL-4 gene showed significant association with hand OA only when considering subgroups of patients. With respect to the CMC1 OA group, two SNPs in IL-4 (rs2243250 and rs2243274) showed association with a P-value of 0.027 and 0.018 respectively. None of these associations remained after correction for multiple testing. Conclusions: The present study shows a trend to an association between non-erosive hand OA in Caucasian population and a genetic variant in the coding region of IL-4R gene. Our results, in keeping with previous data on hip OA, confirm the suggestion that IL-4/. IL-4R system plays a role in OA pathogenesis. Further confirmation studies on different populations are necessary.

Original languageEnglish
Pages (from-to)810-816
Number of pages7
JournalOsteoarthritis and Cartilage
Issue number6
Publication statusPublished - Jun 2010

ASJC Scopus subject areas

  • Biomedical Engineering
  • Orthopedics and Sports Medicine
  • Rheumatology


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