Hollá L I, Fassmann A, Vasků A, Znojil V, Vanek J, Vácha J
Institute of Pathological Physiology, Medical Faculty, Masaryk University Brno, Czech Republic.
J Periodontol. 2001 Jan;72(1):85-9. doi: 10.1902/jop.2001.72.1.85.
Adult periodontitis is a complex multifactorial disease whose etiology is not well defined. To investigate whether the genes encoded within the HLA class III region may confer susceptibility to periodontitis, polymorphisms in the ET-1 and TNF-beta genes were analyzed together with the I/D polymorphism of the ACE gene.
We determined allele and genotype frequencies of the NcoI bi-allelic polymorphism of the TNF-beta gene, the I/D (insertion/deletion) polymorphism of the ACE gene, and the TaqI polymorphism of the ET-1 gene in 63 Caucasian patients with adult periodontitis and 95 orally healthy controls.
We found a significant difference in a 3 locus combination of genotypes between patients and controls (P<0.05). In the next analyses, no significant differences were found in allele frequencies of single genes, but we did find a significant difference in the genotype distribution between cases and controls for TNF-beta (P<0.03). Differences were also observed for 2 locus combinations of ACE and TNF-beta genotypes (P<0.03), and the ET-1 and TNF-beta (P<0.05) genes. Evidence of deviation from Hardy-Weinberg equilibrium was observed in the periodontitis group for TNF-beta, with an absence of the B1B1 homozygotes in patients.
This study is of an exploratory nature. Considering the number of significant results, however, at least a part of the observed associations may obviously be real and our findings suggest that interactions of the TNF-beta, ET-1, and ACE genes may be involved in susceptibility to adult periodontitis.
成人牙周炎是一种复杂的多因素疾病，其病因尚不明确。为研究人类白细胞抗原（HLA）Ⅲ类区域内编码的基因是否会使人易患牙周炎，我们对内皮素 -1（ET-1）基因、肿瘤坏死因子 -β（TNF-β）基因的多态性以及血管紧张素转换酶（ACE）基因的插入/缺失（I/D）多态性进行了分析。
我们测定了63例患有成人牙周炎的白种人患者和95名口腔健康对照者中，TNF-β基因NcoI双等位基因多态性、ACE基因的I/D（插入/缺失）多态性以及ET-1基因的TaqI多态性的等位基因和基因型频率。
我们发现患者与对照者之间在一个三联体基因型组合上存在显著差异（P<0.05）。在接下来的分析中，单个基因的等位基因频率未发现显著差异，但我们确实发现TNF-β基因在病例组与对照组之间的基因型分布存在显著差异（P<0.03）。ACE和TNF-β基因以及ET-1和TNF-β基因的两个位点组合也观察到差异（P<0.03）。在牙周炎组中观察到TNF-β基因偏离哈迪 - 温伯格平衡，患者中不存在B1B1纯合子。
本研究具有探索性。然而，考虑到显著结果的数量，至少部分观察到的关联可能明显是真实的，我们的研究结果表明TNF-β、ET-1和ACE基因的相互作用可能与成人牙周炎的易感性有关。
