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首页> 外文期刊>Cytokine >Proinflammatory cytokine gene polymorphisms and susceptibility to Paget's disease of bone: an association study.
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Proinflammatory cytokine gene polymorphisms and susceptibility to Paget's disease of bone: an association study.

机译：促炎细胞因子基因多态性与骨对佩吉特氏病的敏感性：一项关联研究。

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BACKGROUND: Recent studies suggested that proinflammatory cytokines are involved in the pathophysiology of Paget's disease of bone (PDB). The purpose of this study was to evaluate whether functionally active polymorphisms of the interleukin-1alpha (IL-1alpha), interleukin-1beta (IL-beta), interleukin-6 (IL-6) and tumour necrosis factor-alpha (TNF-alpha) genes would modify the occurrence and the clinical features of PDB. METHODS: Genomic DNA was extracted from 144 PDB patients and 115 healthy controls. All subjects were genotyped for the following functionally active polymorphisms in the proinflammatory cytokine genes: IL-1alpha-889 C>T, IL-1beta-511 C>T, IL-6-174 G>C, and TNF-alpha-308 G>A. Allele and genotype frequencies were compared between cases and controls. The clinical characteristics of the disease were compared according to the different genotypes. RESULTS: Allele and genotype frequencies of the examined polymorphism resulted nearly identical in cases and controls. Examining the association with the clinical features, PDB patients carrying the C/C genotype of the IL-6 gene showed a significantly (p<0.001) higher frequency of hearing loss and primary hyperparathyroidism. No significant difference in the remaining clinical features was found. In conclusion, this study do not support the hypothesis that the examined proinflammatory genes are major genetic risk factor for PDB. However, our data suggests a role for the IL-6 gene in modifying the clinical features of the disease.
机译：背景：最近的研究表明，促炎性细胞因子参与了佩吉特氏骨病（PDB）的病理生理。这项研究的目的是评估白介素-1alpha（IL-1alpha），白介素-1beta（IL-beta），白介素-6（IL-6）和肿瘤坏死因子-alpha（TNF-alpha）是否具有功能活性多态性）基因会改变PDB的发生和临床特征。方法：从144名PDB患者和115名健康对照中提取基因组DNA。对所有受试者的促炎细胞因子基因中的以下功能活性多态性进行基因分型：IL-1alpha-889 C> T，IL-1beta-511 C> T，IL-6-174 G> C和TNF-alpha-308 G > A。比较病例和对照之间的等位基因和基因型频率。根据不同的基因型比较了该疾病的临床特征。结果：检查的多态性的等位基因和基因型频率在病例和对照中几乎相同。检查与临床特征的相关性，携带IL-6基因C / C基因型的PDB患者显示出明显的（p <0.001）较高的听力损失和原发性甲状旁腺功能亢进症频率。在其余临床特征中未发现明显差异。总之，本研究不支持以下假设：所检查的促炎基因是PDB的主要遗传危险因素。但是，我们的数据表明IL-6基因在改变该疾病的临床特征中的作用。

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