Department of Orthopedics, the Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, 710004, China.
Department of orthopedics, Xi'an Fifth Hospital, Xi'an, 710082, China.
BMC Med Genomics. 2022 Jan 5;15(1):5. doi: 10.1186/s12920-021-01142-3.
Genetic polymorphisms play a crucial role in the development of osteonecrosis of the femoral head (ONFH). This study mainly explored the association of IL-6 variants and ONFH susceptibility among the Chinese Han population.
Two variants (rs2069837, and rs13306435) in the IL-6 gene were identified and genotyped from 566 patients with ONFH and 566 healthy controls. The associations between IL-6 polymorphisms and ONFH susceptibility were assessed using odds ratio (OR) and 95% confidence interval (95% CI) via logistic regression. The potential function of these two variants was predicted by the HaploReg online database.
The results of the overall analysis revealed that IL-6 rs2069837 was correlated with decreased risk of ONFH among the Chinese Han population (p < 0.05). In stratified analysis, rs2069837 also reduced the susceptibility to ONFH in older people (> 51 years), males, nonsmokers, and nondrinkers (p < 0.05). However, no associations between rs13306435 and ONFH susceptibility were observed (p > 0.05).
To sum up, we suggested that rs2069837 G>A polymorphism in the IL-6 gene was significantly associated with a decreased risk of ONFH among the Chinese Hans. These findings underscored the crucial role of IL-6 rs2069837 in the occurrence of ONFH.
遗传多态性在股骨头坏死(ONFH)的发生发展中起着至关重要的作用。本研究主要探讨了中国汉族人群白细胞介素 6(IL-6)基因变异与 ONFH 易感性的关系。
从 566 例 ONFH 患者和 566 例健康对照中鉴定并基因分型了 IL-6 基因中的两个变异(rs2069837 和 rs13306435)。采用 logistic 回归分析评估 IL-6 多态性与 ONFH 易感性的关联,并用比值比(OR)和 95%置信区间(95%CI)表示。HaploReg 在线数据库预测了这两个变异的潜在功能。
总体分析结果表明,IL-6 rs2069837 与中国汉族人群 ONFH 发病风险降低相关(p<0.05)。分层分析显示,rs2069837 还降低了老年人(>51 岁)、男性、不吸烟者和不饮酒者的 ONFH 易感性(p<0.05)。然而,rs13306435 与 ONFH 易感性之间没有关联(p>0.05)。
综上所述,我们认为 IL-6 基因 rs2069837 G>A 多态性与中国汉族人群 ONFH 的发病风险降低显著相关。这些发现强调了 IL-6 rs2069837 在 ONFH 发生中的关键作用。