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Association of gene variants in TLR4 and IL-6 genes with Perthes disease

Sanja Srzentić, Vesna Spasovski, Dusko Spasovski

    Srpski Arhiv Za Celokupno Lekarstvo
    |September 20, 2014
    PubMed

    Insights

    Genetic variants in interleukin-6 (IL-6) were studied in children with Perthes disease. Heterozygosity for IL-6 polymorphisms (G-174C/G-597A) was linked to a reduced risk of developing Perthes disease.

    Area of Science:

    • Pediatric Orthopedics
    • Immunogenetics

    Background:

    • Perthes disease is an idiopathic avascular osteonecrosis of the hip in children.
    • Inflammation plays a role in the pathogenesis and bone remodeling during Perthes disease.

    Purpose of the Study:

    • To investigate the association between genetic variants of immune response genes, specifically toll-like receptor 4 (TLR4) and interleukin-6 (IL-6), and Perthes disease.
    • To analyze the frequencies of specific polymorphisms in TLR4 and IL-6 in patients with Perthes disease and healthy controls.

    Main Methods:

    • Genotyping of TLR4 (Asp299Gly, Thr39911e) and IL-6 (G-174C, G-597A) polymorphisms using polymerase chain reaction restriction fragment length polymorphism.
    • Comparison of allele and genotype frequencies between a cohort of 37 Perthes disease patients and 50 healthy controls.

    Main Results:

    • Interleukin-6 (IL-6) G-174C and G-597A polymorphisms were found in complete linkage disequilibrium.
    • A statistically significant increase in heterozygote subjects for IL-6 G-174C/G-597A was observed in the control group compared to the Perthes patient group (p = 0.047, OR = 2.49).
    • No significant differences were found for TLR4 polymorphisms between patients and controls.

    Conclusions:

    • Heterozygosity for IL-6 G-174C/G-597A polymorphisms is associated with a reduced risk of developing Perthes disease.
    • Children heterozygous for these IL-6 polymorphisms may have a lower susceptibility to Perthes disease compared to homozygotes.
    Abstract

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