一种用于研究肿瘤坏死因子-α基因启动子区域单核苷酸多态性的新型微阵列方法的开发：其与希腊患者阻塞性肺疾病的关联。

Development of a novel microarray methodology for the study of SNPs in the promoter region of the TNF-alpha gene: their association with obstructive pulmonary disease in Greek patients.

作者信息

Papatheodorou Athanasios, Latsi Panagiota, Vrettou Christina, Dimakou Aikaterini, Chroneou Alexia, Makrythanasis Periklis, Kaliakatsos Marios, Orfanidou Dora, Roussos Charis, Kanavakis Emmanuel, Tzetis Maria

机构信息

Lecturer Medical Genetics, University of Athens, Medical School, Department of Medical Genetics, Thivon and Levadias, Athens, Greece.

出版信息

Clin Biochem. 2007 Aug;40(12):843-50. doi: 10.1016/j.clinbiochem.2007.03.024. Epub 2007 Apr 19.

DOI:10.1016/j.clinbiochem.2007.03.024

PMID:17509552

Abstract

OBJECTIVES

Polymorphisms in promoter region of TNF-alpha gene were shown to interfere with the transcriptional activity of the gene resulting in the production of different levels of TNF-alpha product suggesting their involvement in susceptibility or severity of many inflammatory diseases. We set up a case-control study consisting of 117 COPD (Chronic Obstructive Pulmonary Disease), 62 DB (bronchiectasis) patients and two control groups (109 smokers without COPD-healthy smokers control group and 212 general population subjects) to evaluate involvement of TNF-alpha gene polymorphisms in the abovementioned diseases in a homogeneous population.

METHODS

The novel methodology of the NanoChip Molecular Biology Workstation (MBW Nanogen http://www.nanogen.com) was employed to genotype the 5 promoter SNPs.

RESULTS AND CONCLUSIONS

Genotype frequencies of the 5 SNPs showed no significant difference between the COPD and DB patient groups and the healthy smokers group. Statistical difference (p=0.043) was only revealed between the haplotype frequencies in COPD patients compared to the general population control group. The NanoChip MBW is an accurate method for SNP screening.

摘要

目的

肿瘤坏死因子-α（TNF-α）基因启动子区域的多态性被证明会干扰该基因的转录活性，导致产生不同水平的TNF-α产物，这表明它们与多种炎症性疾病的易感性或严重程度有关。我们开展了一项病例对照研究，纳入117例慢性阻塞性肺疾病（COPD）患者、62例支气管扩张症（DB）患者以及两个对照组（109名无COPD的吸烟者——健康吸烟者对照组和212名普通人群受试者），以评估在同一人群中TNF-α基因多态性与上述疾病的相关性。