| Summary: | Introduction. Perthes disease is idiopathic avascular osteonecrosis of the
hip in children, with unknown etiology. Inflammation is present during
development of Perthes disease and it is known that this process influences
bone remodeling. Objective. Since genetic studies related to inflammation
have not been performed in Perthes disease so far, the aim of this study was
to analyze the association of frequencies of genetic variants of immune
response genes, toll-like receptor 4 (TLR4) and interleukin-6 (IL-6), with
this disease. Methods. The study cohort consisted of 37 patients with Perthes
disease and 50 healthy controls. Polymorphisms of well described inflammatory
mediators: TLR4 (Asp299Gly, Thr399Ile) and IL-6 (G-174C, G- 597A) were
determined by polymerase chain reaction restriction fragment length
polymorphism method. Results. IL-6 G-174C and G-597A polymorphisms were in
complete linkage disequilibrium. A statistically significant increase of
heterozygote subjects for IL-6 G-174C/G-597A was found in controls in
comparison to Perthes patient group (p=0.047, OR=2.49, 95% CI=1.00-6.21).
Also, the patient group for IL-6 G-174C/G- 597A polymorphisms was not in
Hardy-Weinberg equilibrium. No statistically significant differences were
found between patient and control groups for TLR4 analyzed polymorphisms. A
stratified analysis by the age at disease onset also did not reveal any
significant difference for all analyzed polymorphisms. Conclusion. Our study
revealed that heterozygote subjects for the IL-6 G-174C/G-597A polymorphisms
were significantly overrepresented in the control group than in the Perthes
patient group. Consequently, we concluded that children who are heterozygous
for these polymorphisms have a lower chance of developing Perthes disease
than carriers of both homozygote genotypes. [Projekat Ministarstva nauke
Republike Srbije, br. III41004]
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