Interleukin-4/interleukin-4 receptor gene polymorphisms in hand osteoarthritis
| Autor: | Tania Silvestri, Manuela Vargiolu, L. Mancarella, Annalisa Facchini, Elena Bonora, Paolo Dolzani, Lia Pulsatelli, Giovanni Romeo, Leonardo Punzi, Olga Addimanda, Antonella Fioravanti, Riccardo Meliconi |
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| Přispěvatelé: | Vargiolu M., Silvestri T., Bonora E., Dolzani P., Pulsatelli L., Addimanda O., Mancarella L., Punzi L., Fioravanti A., Facchini A., Romeo G., Meliconi R. |
| Jazyk: | angličtina |
| Rok vydání: | 2010 |
| Předmět: |
Oncology
Adult Male medicine.medical_specialty Genotype Biomedical Engineering Single-nucleotide polymorphism Polymorphism Single Nucleotide Association Study Pathogenesis Gene Polymorphism Gene Frequency Rheumatology Internal medicine Interleukin-4 receptor Statistical significance Osteoarthritis medicine SNP Humans Genetic Predisposition to Disease Orthopedics and Sports Medicine Gene Alleles Aged Genetics Aged 80 and over Allele business.industry IL-4 Receptor Middle Aged Hand Receptors Interleukin-4 Multiple comparisons problem Cytokines Female Osteoarthriti Gene polymorphism Interleukin-4 Hand Osteoarthritis business Human |
| Popis: | 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. © 2010 Osteoarthritis Research Society International. |
| Databáze: | OpenAIRE |
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