Yuan L, Li W, Tian Z B, Li Y, Sun S
Department of Joint Surgery, Shandong Provincial Hospital affiliated to Shandong University, Jinan 250021, China.
Cell Mol Biol (Noisy-le-grand). 2017 Sep 30;63(9):144-149. doi: 10.14715/cmb/2017.63.9.23.
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.
股骨头坏死(ONFH)的进行性神经退行性变过程伴随着慢性炎症,包括表达促炎细胞因子的小胶质细胞和星形胶质细胞的激活。到目前为止,众多遗传流行病学研究评估了不同人群中抗炎和促炎细胞因子基因多态性与ONFH风险的关联,但由于不同人群的遗传异质性,得到了相互矛盾的结果。在本研究中,招募了来自山东省的250例ONFH患者和228例匹配的健康对照,以评估白细胞介素-10(IL-10)rs1800872、IL-12 rs3212227和肿瘤坏死因子-α(TNF-α)rs1800629基因多态性对ONFH的影响。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对单核苷酸多态性(SNP)位点进行基因分型。TNF-α和IL-10的基因型和等位基因频率在ONFH患者和正常对照之间未显示出显著差异。然而,IL-12 rs3212227野生型(AA)和纯合突变型(CC)基因型在对照组中的频率高于ONFH患者,但杂合基因型在ONFH患者中的频率更高。因此,我们的研究结果表明,IL-12 rs3212227 AC基因型在中国汉族人群中赋予了ONFH遗传易感性。