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  • Title: Polymorphisms in the Glucocorticoid Receptor Gene and Associations with Glucocorticoid-Induced Avascular Osteonecrosis of the Femoral Head.
    Author: Zhao Z, Xue Y, Hong D, Zhang H, Hu Z, Fan S, Chen H.
    Journal: Genet Test Mol Biomarkers; 2017 May; 21(5):322-327. PubMed ID: 28346829.
    Abstract:
    AIMS: 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. METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.
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