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首页> 外文期刊>Ophthalmic genetics >Glucocorticoid receptor polymorphisms and intraocular pressure response to intravitreal triamcinolone acetonide.
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Glucocorticoid receptor polymorphisms and intraocular pressure response to intravitreal triamcinolone acetonide.

机译：糖皮质激素受体多态性和眼压对玻璃体内曲安奈德的反应。

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BACKGROUND: Elevation of intraocular pressure (IOP) following injection of intravitreal triamcinolone acetonide (IVTA) is an important clinical problem. The etiology of the steroid response is poorly understood, although a genetic determinant has long been suspected. We performed a pharmacogenomic association study with glucocorticoid receptor polymorphisms. MATERIALS AND METHODS: Fifty-two patients (56 eyes) who underwent treatment with IVTA for various retinal diseases were genotyped for six well-studied glucocorticoid receptor polymorphisms (ER22/23EK, N363S, BclI, N766N, and single nucleotide polymorphisms (SNPs) within introns 3 and 4). RESULTS: Three polymorphisms (ER22/23EK, N363S, and the intron 3 SNP) were essentially nonpolymorphic within this population sample and excluded from further analysis. The remaining three polymorphisms (BclI, N766N, and within intron 4) passed the Hardy-Weinberg Equilibrium test, indicating good genotyping quality and normal population distribution of allelic frequency. No statistically significant correlations were found between these three polymorphisms and magnitude of IOP elevation following IVTA, using single point association and haplotype analyses. CONCLUSIONS: In this small, pilot study, we found no statistically significant relationship between glucocorticoid receptor polymorphisms and IOP elevation following IVTA. The precise etiology of the steroid response remains obscure. To our knowledge, this is the first published pharmacogenomic study of this common clinical entity.
机译：背景：注射玻璃体内曲安奈德（IVTA）后眼内压（IOP）升高是一个重要的临床问题。尽管长期以来一直怀疑遗传决定因素，但对类固醇反应的病因学知之甚少。我们进行了糖皮质激素受体多态性的药物基因组学关联研究。材料与方法：对接受各种静脉疾病的IVTA治疗的52例患者（56眼）进行了基因型分型，研究了六个经过充分研究的糖皮质激素受体多态性（ER22 / 23EK，N363S，BclI，N766N和单核苷酸多态性（SNP））内含子3和4）。结果：在该人群样本中，三个多态性（ER22 / 23EK，N363S和内含子3 SNP）基本上是非多态性的，因此不作进一步分析。其余三个多态性（BclI，N766N和内含子4内）通过了Hardy-Weinberg平衡测试，表明良好的基因分型质量和等位基因频率的正常群体分布。使用单点关联和单倍型分析，在这三种多态性与IVTA后IOP升高幅度之间没有统计学意义的相关性。结论：在这项小型的前期研究中，我们发现糖皮质激素受体多态性与IVTA后IOP升高之间无统计学意义的相关性。类固醇反应的确切病因仍然不清楚。就我们所知，这是该常见临床实体首次发表的药物基因组学研究。

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