Inner Mongolia Medical University, Hohhot, Inner Mongolia, China.
Department of Trauma Orthopedics, The Second Affiliated Hospital of Inner Mongolia Medical University, Hohhot, Inner Mongolia, China.
Biomed Res Int. 2019 May 5;2019:8298193. doi: 10.1155/2019/8298193. eCollection 2019.
Steroid-induced osteonecrosis of the femoral head is a relatively serious condition which seriously reduces patient quality of life. However, the pathogenesis of steroid-induced ONFH is still unclear. In recent years, more scholars have found that the pathogenesis of steroid-induced ONFH is related to susceptibility factors such as / system. The main purpose of this study is to investigate the correlation between and gene polymorphisms and steroid-induced ONFH in Chinese Han population.
Six SNPs in and two SNPs in were genotyped using Agena MassARRAY RS1000 system from 286 patients of steroid-induced ONFH and in 309 healthy controls. The association between and polymorphisms and steroid-induced ONFH risk were estimated by the Chi-squared test, genetic model analysis, haplotype analysis, and stratification analysis. The relative risk was estimated by odd ratios (ORs) and 95% confidence intervals (CIs).
We found that the minor TG allele of rs470154 in was associated with an increased risk of steroid-induced ONFH (OR = 1.45, 95% CI, 1.03 - 2.05, = 0.032). In the genetic model analysis, we found that rs2241146 in gene and rs470154 in gene showed a statistically significant association with increased risk of steroid-induced ONFH. The six SNPs (rs470154, rs243866, rs243864, rs865094, rs11646643, and rs2241146) showed a statistically significant association with different clinical phenotypes.
Our results verify that genetic polymorphisms of and contribute to steroid-induced ONFH susceptibility in the population of Chinese Han population, and our study provides new insights into the role that and plays in the mechanism of ONFH.
激素性股骨头坏死是一种较为严重的疾病，严重降低了患者的生活质量。然而，激素性股骨头坏死的发病机制尚不清楚。近年来，越来越多的学者发现，激素性股骨头坏死的发病机制与易患因素如/系统有关。本研究的主要目的是探讨中国汉族人群中基因和基因多态性与激素性股骨头坏死的相关性。
采用 Agena MassARRAY RS1000 系统对 286 例激素性股骨头坏死患者和 309 例健康对照者的基因和基因中的 6 个 SNP 和 2 个 SNP 进行基因分型。采用卡方检验、遗传模型分析、单体型分析和分层分析评估和基因多态性与激素性股骨头坏死风险的相关性。用比值比（ORs）和 95%置信区间（CIs）估计相对风险。
我们发现基因中的 rs470154 中的 TG 等位基因与激素性股骨头坏死的风险增加相关（OR=1.45，95%CI，1.03-2.05，=0.032）。在遗传模型分析中，我们发现基因中的 rs2241146 和基因中的 rs470154 与激素性股骨头坏死的风险增加有统计学意义的关联。6 个 SNP（rs470154、rs243866、rs243864、rs865094、rs11646643 和 rs2241146）与不同的临床表型有统计学意义的关联。
我们的结果验证了基因和基因多态性与汉族人群激素性股骨头坏死易感性有关，本研究为基因在股骨头坏死发病机制中的作用提供了新的见解。
