Holla Lydie Izakovicova, Fassmann Antonin, Augustin Peter, Halabala Tomas, Znojil Vladimir, Vanek Jiri
Department of Pathophysiology, Masaryk University, Brno, Czech Republic.
J Periodontol. 2008 Oct;79(10):1927-33. doi: 10.1902/jop.2008.080035.
Cytokine gene polymorphisms are known to influence the susceptibility and disease course of many chronic disorders. Recently, interleukin (IL)-4 gene polymorphisms were associated with aggressive periodontitis. The aim of this study was to test differences in the distribution of the IL-4 alleles, genotypes, and haplotypes between patients with chronic periodontitis (CP) and healthy controls in a Czech population.
The association study was conducted using an age- and smoking status-matched case-control design in patients with CP (n = 194) and healthy controls (n = 158) using the polymerase chain reaction-restriction fragment length polymorphism methods for the -590C/T, -33C/T, and intron 3 variable number tandem repeat (VNTR) variants of the IL-4 gene.
No significant differences between patients and controls were found in allele and genotype frequencies of all three polymorphisms. Nevertheless, complex analysis revealed significant differences in haplotype frequencies between the groups (P = 0.005). The haplotype T(-590)/T(-33)/allele 2 VNTR (70 base pairs)(2) of the IL-4 gene was significantly more frequent in patients with CP than in controls (17.0% versus 11.0%; odds ratio = 1.85; 95% confidence interval: 1.19 to 2.87).
The three polymorphisms in the IL-4 gene act in a cooperative fashion and suggest that the high-production IL-4 haplotype was associated with an increased risk for CP in the Czech population.
已知细胞因子基因多态性会影响许多慢性疾病的易感性和病程。最近，白细胞介素（IL）-4基因多态性与侵袭性牙周炎相关。本研究的目的是检测捷克人群中慢性牙周炎（CP）患者与健康对照者之间IL-4等位基因、基因型和单倍型分布的差异。
采用年龄和吸烟状况匹配的病例对照设计，对194例CP患者和158例健康对照者进行关联研究，使用聚合酶链反应-限制性片段长度多态性方法检测IL-4基因的-590C/T、-33C/T和内含子3可变数目串联重复序列（VNTR）变异。
在所有三种多态性的等位基因和基因型频率方面，患者与对照者之间未发现显著差异。然而，综合分析显示两组之间单倍型频率存在显著差异（P = 0.005）。IL-4基因的单倍型T（-590）/T（-33）/等位基因2 VNTR（70个碱基对）（2）在CP患者中比在对照者中显著更常见（17.0%对11.0%；优势比 = 1.85；95%置信区间：1.19至2.87）。
IL-4基因中的三种多态性以协同方式起作用，提示高产生IL-4单倍型与捷克人群中CP风险增加相关。
