The progressive neurodegenerative process in osteonecrosis of the femoral head (ONFH) is accompanied by chronic inflammation, including activation of microglia and astrocytes that express pro-inflammatory cytokines. Up to now, numerous studies of genetic epidemiology have assessed the association of anti- and pro-inflammation cytokines gene polymorphisms and risk of ONFH in different populations, but contradictory results were obtained due to the genetic heterogeneity of in different populations. In the study, 250 ONFH patients and 228 matched healthy controls from Shandong Province were recruited to evaluate the influence of interleukin-10 (IL-10) rs1800872, IL-12 rs3212227 and tumor necrosis factor-(TNF-α) rs1800629 polymorphism in ONFH. Single nucleotide polymorphism (SNP) locus was genotyped using the PCR-RFLP method. The genotypic and allele frequencies of TNF-α and IL-10 did not show significant difference between ONFH patients and normal controls. However, the frequencies of wild (AA) and homozygous mutant (CC) genotype of IL-12 rs3212227 in controls were more than that in ONFH patients, but that of the heterozygous genotype was more in patients with ONFH. Thus, our findings indicate that IL-12 rs3212227 AC genotype confer genetically susceptibility to ONFH in the Chinese Han population.
Keywords: IL-10; IL-12; Osteonecrosis of the femoral head; Polymorphism.; TNF-α.