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首页> 外文期刊>Cytokine >TNF-alpha levels and TNF-alpha gene polymorphism in type I Gaucher disease.
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TNF-alpha levels and TNF-alpha gene polymorphism in type I Gaucher disease.

机译：I型Gaucher病中的TNF-α水平和TNF-α基因多态性。

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The objective of this pilot study was to determine the levels of Tumor Necrosis Factor (TNF)-alpha and TNF-alpha gene polymorphism as a marker of inflammation among patients with type I Gaucher disease as well as to ascertain the relationship between this cytokine and parameters of disease severity and other measures of inflammation. Levels of TNF-alpha and genotyping for the -308 G-->A polymorphism in the promoter of the TNF-alpha gene were performed in 17 patients with type I Gaucher disease. TNF-alpha levels were compared with the promoter gene polymorphism, and with hematological and other clinical parameters of Gaucher disease. Eight patients (47.1%) were homozygotes (A/A) for the TNF-alpha polymorphism, six patients (35.3%) had the wild type (G/G), and three patients (17.6%) were heterozygotes (G/A). A significant correlation was found between serum TNF-alpha levels and TNF-alpha genotypes for homozygotes versus heterozygotes patients (p = 0.02), with patients homozygous for the polymorphism having the lower levels of serum TNF-alpha relative to heterozygotes with the highest levels. No correlation was found between TNF-alpha genotypes and chitotriosidase levels, a putative biochemical marker for Gaucher disease severity. Because a significant correlation was found between homozygosity for a common promoter polymorphism of TNF-alpha and milder expression i.e. non-neuronopathic form, of Gaucher disease (versus the neuronopathic forms), this may be suggestive of an association between genetic variability in TNF-alpha and phenotypic expression in Gaucher disease. Larger studies will be required.
机译：这项初步研究的目的是确定I型Gaucher病患者中作为肿瘤炎症标志物的肿瘤坏死因子（TNF）-α和TNF-α基因多态性水平，并确定该细胞因子与参数之间的关系。疾病严重程度和其他炎症措施。在17例I型Gaucher病患者中进行了TNF-alpha的水平和TNF-alpha基因启动子中-308 G-> A多态性的基因分型。将TNF-α水平与启动子基因多态性以及戈谢病的血液学和其他临床参数进行比较。八名患者（47.1％）为TNF-alpha多态性纯合子（A / A），六名患者（35.3％）为野生型（G / G），三名患者（17.6％）为杂合子（G / A） 。发现纯合子与杂合子患者的血清TNF-α水平和TNF-α基因型之间存在显着相关性（p = 0.02），其中多态性纯合的患者相对于最高水平的杂合子具有较低的血清TNF-α水平。 TNF-α基因型和壳三糖苷酶水平之间没有相关性，壳聚糖三糖苷酶水平是高雪氏病严重程度的假定生化指标。因为发现TNF-α的常见启动子多态性的纯合性与Gaucher病的轻度表达（即非神经病变形式）（相对于神经病性形式）之间存在显着相关性，所以这可能表明TNF-α的遗传变异性之间存在关联和Gaucher病的表型表达。将需要更大的研究。

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