Zhao Zhanqin, Xue Yun, Hong Dun, Zhang Hongjun, Hu Zhigang, Fan Shunwu, Chen Haixiao
1 Department of Orthopedics, Taizhou Hospital of Zhejiang Province , Taizhou, China .
2 College of Animal Science and Technology, Henan University of Science and Technology , Luoyang, China .
Genet Test Mol Biomarkers. 2017 May;21(5):322-327. doi: 10.1089/gtmb.2016.0260. Epub 2017 Mar 27.
Individual sensitivity to glucocorticoid (GC) therapy might play a pivotal role in the development of GC-induced avascular necrosis of the femoral head (GANFH). In a growing number of studies, common polymorphisms of the glucocorticoid receptor gene (nuclear receptor subfamily 3 group C member 1 [NR3C1]) have been associated with variability in the individual sensitivity to GCs. However, whether the NR3C1 gene polymorphisms actually influence the susceptibility of GANFH remains unknown.
In this study, we report the findings of a case-control study to investigate the role of the NR3C1 gene single-nucleotide polymorphisms (SNPs) in GANFH susceptibility among 78 GANFH patients (GCs sensitive) and 115 GC-resistant controls.
Our results found no significant associations between the SNPs N363S, Tth111I, BclI, ER22/23EK, and A3669G with GANFH susceptibility. The G allele frequency, both homozygous and heterozygous, of SNP BclI was significantly different between control and GANFH combined with osteopenia subgroups (odds ratios [OR] = 1.81; 95% confidence intervals [CI] = 1.05-3.10; OR = 2.04; 95% CI = 1.03-4.07, respectively).
Most of these common SNPs in the NR3C1 gene likely do not play critical roles in the susceptibility of GANFH. However, the G allele at the SNP Bcll, irrespective of dosage, may increase risk for the development of GANFH combined with osteopenia in the Chinese population.
个体对糖皮质激素(GC)治疗的敏感性可能在GC诱导的股骨头缺血性坏死(GANFH)的发生发展中起关键作用。在越来越多的研究中,糖皮质激素受体基因(核受体亚家族3 C组成员1 [NR3C1])的常见多态性与个体对GCs敏感性的差异有关。然而,NR3C1基因多态性是否真的影响GANFH的易感性仍不清楚。
在本研究中,我们报告了一项病例对照研究的结果,以调查NR3C1基因单核苷酸多态性(SNPs)在78例GANFH患者(GC敏感)和115例GC抵抗对照者中GANFH易感性中的作用。
我们的结果发现,SNPs N363S、Tth111I、BclI、ER22/23EK和A3669G与GANFH易感性之间无显著关联。对照与GANFH合并骨质减少亚组之间,SNP BclI的G等位基因频率(纯合子和杂合子)有显著差异(优势比[OR]分别为1.81;95%置信区间[CI]=1.05-3.10;OR=2.04;95%CI=1.03-4.07)。
NR3C1基因中的这些常见SNPs大多数可能在GANFH易感性中不起关键作用。然而,在中国人群中,SNP Bcll处的G等位基因,无论剂量如何,可能会增加GANFH合并骨质减少发生的风险。