IL1B 基因多态性与汉族人群激素性股骨头坏死易感性的相关性研究
Genetic polymorphisms in IL1B predict susceptibility to steroid-induced osteonecrosis of the femoral head in Chinese Han population.
机构信息
Department of Clinical Laboratory, HongHui Affiliated Hospital of Xi'an Jiaotong University College of Medicine, Xi'an, 710054, Shaanxi, China.
Department of Orthopedics, Suizhou Hospital, Hubei University Of Medicine, Suizhou, 441300, Hubei, China.
出版信息
Osteoporos Int. 2019 Apr;30(4):871-877. doi: 10.1007/s00198-019-04835-9. Epub 2019 Mar 9.
UNLABELLED
The purpose of this research was to examine if the IL1B gene polymorphism has impact on the risk of steroid-induced ONFH in Chinese population. We found that IL1B rs1143630 decreased the SANFH's risk and IL1B rs2853550 increased the risk of steroid-induced ONFH. So, we guess that IL1B gene influences the genetic susceptibility of steroid-induced ONFH.
INTRODUCTION
Genetic polymorphisms in IL1B gene could be related in the pathogenesis of osteonecrosis. Discusses on the relationship between the IL1B gene and steroid-induced osteonecrosis of the femoral head (steroid-induced ONFH) is still less in Chinese Han population. So, in this research, we want to examine whether the IL1B gene polymorphism has impact on the risk of steroid-induced ONFH in Chinese population.
METHODS
A total of 286 steroid-induced ONFH patients and 441 controls were recruited, and seven SNPs (rs2853550, rs1143643, rs3136558, rs1143630, rs1143627, rs16944, and rs1143623) in IL1B gene were selected; unconditional logistic regression analysis was used to research the influence on the risk of steroid-induced ONFH. Functional annotations of IL1B variants were performed by RegulomeDB and HaploReg.
RESULTS
rs1143630 (A>C) in the IL1B gene decreased the risk of steroid-induced ONFH in the allele model (OR = 0.69, 95%CI 0.51-0.93, p = 0.014). Further genetic model analyses found that IL1B rs2853550 AG genotype increased the risk of steroid-induced ONFH compared with the people who are carriers of the IL1B rs2853550 GG genotype (OR = 1.69, 95%CI 1.16-2.46, p = 0.012). In the dominant model, IL1B rs1143630 GG-GT genotype decreased the risk of steroid-induced ONFH (OR = 0.62, 95%CI 0.44-0.87, p = 0.0051). And further haplotype analysis was performed, while the result was not significant. Using RegulomeDB and HaploReg, rs2853550 is likely to affect TF binding, any motif and DNase peak.
CONCLUSIONS
We guess that IL1B gene influences the genetic susceptibility of steroid-induced ONFH.
目的
本研究旨在探讨白细胞介素 1B（IL1B）基因多态性是否会影响中国人群中激素诱导性股骨头坏死（steroid-induced osteonecrosis of the femoral head，SANFH）的发病风险。我们发现，IL1B rs1143630 降低了 SANFH 的发病风险，而 IL1B rs2853550 增加了激素诱导性 ONFH 的发病风险。因此，我们推测 IL1B 基因影响激素诱导性 ONFH 的遗传易感性。
引言
IL1B 基因中的遗传多态性可能与骨坏死的发病机制有关。在中国汉族人群中，关于 IL1B 基因与激素诱导性股骨头坏死（steroid-induced osteonecrosis of the femoral head，SANFH）之间的关系的讨论仍然较少。因此，在本研究中，我们旨在探讨 IL1B 基因多态性是否会影响中国人群中激素诱导性 ONFH 的发病风险。
方法
共纳入 286 例激素诱导性 ONFH 患者和 441 例对照者，并选择了 IL1B 基因中的 7 个单核苷酸多态性（SNP）（rs2853550、rs1143643、rs3136558、rs1143630、rs1143627、rs16944 和 rs1143623）。采用非条件 logistic 回归分析研究其对激素诱导性 ONFH 发病风险的影响。利用 RegulomeDB 和 HaploReg 对 IL1B 变异体进行功能注释。
结果
IL1B 基因中的 rs1143630（A>C）等位基因模型降低了激素诱导性 ONFH 的发病风险（OR=0.69，95%CI 0.51-0.93，p=0.014）。进一步的遗传模型分析发现，与携带 IL1B rs2853550 GG 基因型的人群相比，IL1B rs2853550 AG 基因型增加了激素诱导性 ONFH 的发病风险（OR=1.69，95%CI 1.16-2.46，p=0.012）。在显性模型中，IL1B rs1143630 GG-GT 基因型降低了激素诱导性 ONFH 的发病风险（OR=0.62，95%CI 0.44-0.87，p=0.0051）。进一步进行了单体型分析，但结果无统计学意义。利用 RegulomeDB 和 HaploReg，rs2853550 可能影响 TF 结合、任何基序和 DNase 峰。
结论
我们推测 IL1B 基因影响激素诱导性 ONFH 的遗传易感性。
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