Article type: Research Article
Authors: Samara, S. | Kollia, P. | Dailiana, Z. | Chassanidis, C. | Papatheodorou, L. | Koromila, T. | Malizos, K.N.;
Affiliations: Laboratory of Medical Genetics and Cytogenetics,
Faculty of Medicine, School of Health Sciences, University of Thessalia,
Larissa, Greece | Laboratory of Human Genetics, Faculty of Biology,
University of Athens, Athens, Greece | Department of Orthopaedic Surgery, Faculty of
Medicine, School of Health Sciences, University of Thessalia, Larissa,
Greece | Center for Research and Technology-Thessalia
(CERETETH), Institute of Biomedical Research and Technology, Larissa,
Greece
Note: [] Corresponding author: Panagoula Kollia, Department of Biology,
School of Physical Sciences, National and Kapodistrian University of Athens,
Panepistimioupolis, 157 01, Athens, Greece. Tel.: +30 210 7274 401; Fax: +30
210 7274 318; E-mail: [email protected]
Abstract: 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 χ ^{2} 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.
Keywords: Osteonecrosis, avascular necrosis, cytokines, interleukins, osteoblasts, osteoclasts
DOI: 10.3233/DMA-2012-0928
Journal: Disease Markers, vol. 33, no. 4, pp. 215-221, 2012
Received 11 September 2012
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Accepted 11 September 2012
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Published: 2012
