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[西班牙银屑病患者肿瘤坏死因子α启动子区域的基因多态性研究]

[Study of genetic polymorphisms in the tumor necrosis factor α promoter region in Spanish patients with psoriasis].

作者信息

Gallo E, Cabaleiro T, Román M, Abad-Santos F, Daudén E

机构信息

Servicio de Dermatología, Hospital Universitario de La Princesa, Instituto Teófilo Hernando, Madrid, España.

出版信息

Actas Dermosifiliogr. 2012 May;103(4):301-7. doi: 10.1016/j.ad.2011.10.002. Epub 2011 Dec 20.

Abstract

BACKGROUND

Several studies have reported an association between tumor necrosis factor α (TNF-α) polymorphisms and inflammatory diseases such as psoriasis vulgaris and psoriatic arthritis, although the results vary according to the population studied. No studies have been performed in the Spanish population.

OBJECTIVE

To analyze the polymorphisms of the promoter region of the TNF-α gene in patients with moderate to severe psorasis and to identify potential differences in genotype compared to a group of healthy volunteers.

MATERIAL AND METHODS

Eighty-nine patients with moderate to severe psoriasis and 76 healthy controls with no personal or family history of psoriasis were selected. Polymorphisms of the TNF-α promoter region of both groups were genotyped.

RESULTS

We observed a higher prevalence of the genotype with both wild-type alleles at positions -238 (GG genotype, 86.5% vs 70.4%, respectively) and -1031 (TT genotype, 80.2% vs 45.8%, respectively) in patients compared to the healthy control group. The differences at positions -308 and -857 were not significant.

CONCLUSION

There are differences in polymorphisms at positions -238 and -1031 in patients with moderate to severe psoriasis compared to healthy volunteers. This observation provides further support for the importance of the part that TNF-α plays in the pathophysiology of this disease.

摘要

背景

多项研究报道了肿瘤坏死因子α(TNF-α)基因多态性与诸如寻常型银屑病和银屑病关节炎等炎症性疾病之间的关联,尽管结果因所研究的人群而异。尚未在西班牙人群中开展相关研究。

目的

分析中重度银屑病患者肿瘤坏死因子α(TNF-α)基因启动子区域的多态性,并确定与一组健康志愿者相比基因型的潜在差异。

材料与方法

选取89例中重度银屑病患者和76例无银屑病个人或家族史的健康对照者。对两组的TNF-α启动子区域多态性进行基因分型。

结果

与健康对照组相比,我们观察到患者在-238位点(GG基因型,分别为86.5%对70.4%)和-1031位点(TT基因型,分别为80.2%对45.8%)具有两个野生型等位基因的基因型患病率更高。在-308和-857位点的差异不显著。

结论

与健康志愿者相比,中重度银屑病患者在-238和-1031位点的多态性存在差异。这一观察结果进一步支持了TNF-α在该疾病病理生理学中所起作用的重要性。

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