TNF-α levels and TNF-α gene polymorphism in type I Gaucher disease
TNF-α levels and TNF-α gene polymorphism in type I Gaucher disease
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DOI：
10.1016/j.cyto.2005.03.006
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发表时间：
2005-07-21
期刊：
影响因子：
3.8
通讯作者：
Elstein, D
中科院分区：
文献类型：
--
作者：
Altarescu, G;Zimran, A;Elstein, D
这项初步研究的目的是确定肿瘤坏死因子-α和肿瘤坏死因子-α基因多态性作为I型高谢病患者炎症指标的水平，并确定该细胞因子与疾病严重程度参数和其他炎症指标的关系。对17例I型高谢病患者进行了肿瘤坏死因子-α水平和肿瘤坏死因子-α基因启动子-308G->；A多态性的基因分型。将肿瘤坏死因子-α水平与启动子基因多态性、血液学和其他临床指标进行比较。8例(47.1%)为纯合子(A/A)，6例(35.3%)为野生型(G/G)，3例(17.6%)为杂合子(G/A)。在纯合子患者和杂合子患者中，血清肿瘤坏死因子-α水平与肿瘤坏死因子-α基因分型显著相关(p=0.02)，纯合子患者的血清肿瘤坏死因子-α水平低于杂合子患者(p=0.02)。未发现肿瘤坏死因子-α基因型别与壳三糖苷酶水平之间的相关性，壳三糖苷酶水平可能是高谢病严重程度的生化标记物。由于发现肿瘤坏死因子-α的一个常见启动子多态的纯合性与高谢病较轻的表达(即非神经病理性形式)之间存在显著的相关性，这可能提示肿瘤坏死因子-α的遗传变异性与高谢病的表型表达之间存在关联。将需要更大规模的研究。(C)2005爱思唯尔有限公司。保留所有权利。
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. (c) 2005 Elsevier Ltd. All rights reserved.