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Disease Markers
Volume 33 (2012), Issue 4, Pages 215-221

Predictive Role of Cytokine Gene Polymorphisms for the Development of Femoral Head Osteonecrosis

S. Samara,1 P. Kollia,2 Z. Dailiana,3 C. Chassanidis,1 L. Papatheodorou,3 T. Koromila,2 and K.N. Malizos3,4

1Laboratory of Medical Genetics and Cytogenetics, Faculty of Medicine, School of Health Sciences, University of Thessalia, Larissa, Greece
2Laboratory of Human Genetics, Faculty of Biology, University of Athens, Athens, Greece
3Department of Orthopaedic Surgery, Faculty of Medicine, School of Health Sciences, University of Thessalia, Larissa, Greece
4Center for Research and Technology-Thessalia (CERETETH), Institute of Biomedical Research and Technology, Larissa, Greece

Received 11 September 2012; Accepted 11 September 2012

Copyright © 2012 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Introduction: Osteonecrosis (ON) is a multifactorial disease that leads to hip destruction. Lately, much focus has been at femoral head preservation with nonsurgical methods. In this study we examined the polymorphisms of IL-1α, IL-1R, IL-1RA, IL-4Rα, IL-1β, IL-12, γIFN, TGF-β, TNF-a, IL-2, IL-4, IL-6 and IL-10 genes for evaluation of their contribution in ON.

Material and methods: DNA was extracted from 112 ON patients and 438 healthy donors. Analysis of the polymorphisms was completed using the PCR-SSP method. Statistical analysis was performed using the χ2 test to compare the genotype and allelic frequency distribution.

Results: The CT and GA genotypes of the IL-1α (-889) and TNF-a (-238) genes were found higher in the patients (51.8% and 10.8%, respectively) compared to the healthy donors (39.7% and 2.1%, respectively). In TGF-β codon 25, the G to C polymorphism in the homozygous state was found in 1.8% of the patients and the C allele frequency was 8.9%, whereas the G allele frequency was 91.1%. Also, at the IL-10 (-1082) gene the GG genotype was 16.2% in the controls whereas in the patients was 7.2%.

Conclusions: Based on the above, we showed that certain genotypes of the IL-1α, TGF-β, IL-10 and TNF-a genes could be related in the pathogenesis of a complicated disease, such as osteonecrosis. The presence of one of the above mentioned polymorphisms or the simultaneous carriage of more than one may further increase the risk for osteonecrosis, especially in those at high risk, such as patients receiving corticosteroids.