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IL-6 基因内含子 SNP rs2069837 与股骨头坏死的发展有关。

An intron SNP rs2069837 in IL-6 is associated with osteonecrosis of the femoral head development.

机构信息

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.

出版信息

BMC Med Genomics. 2022 Jan 5;15(1):5. doi: 10.1186/s12920-021-01142-3.

Abstract

BACKGROUND

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.

METHODS

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.

RESULTS

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).

CONCLUSIONS

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.

摘要

背景

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。

方法

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。

结果

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)。

结论

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f03a/8734317/a918451bf253/12920_2021_1142_Fig1_HTML.jpg

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