Behniafard N, Amirzargar A A, Gharagozlou M, Delavari F, Hosseinverdi S, Sotoudeh S, Farhadi E, Mahmoudi M, Khaledi M, Moghaddam Z G, Aghamohammadi A, Rezaei N
Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Allergol Immunopathol (Madr). 2018 Mar-Apr;46(2):155-159. doi: 10.1016/j.aller.2017.05.007. Epub 2018 Jan 5.
Atopic dermatitis is an inflammatory skin disease in which both genetic and environmental factors interact to determine the susceptibility and severity of the disease.
The aim of this study was to determine the association between atopic dermatitis and IL-10 and TGF-β1 gene polymorphisms.
The allele and genotype frequencies of genes encoding for IL-10 and TGF-β1 were investigated in 89 patients with atopic dermatitis in comparison with 138 in the control group using the PCR-SSP method.
A significant increase was found in the frequency of the TGF-β1 codon 10/C allele among patients (p<0.001, OR=6.77), whereas a significant decrease was observed in the frequency of the T allele at the same position (p<0.001, OR=0.14). The frequency of the TGF-β1 codon 25/G allele in the control group was significantly higher than among patients (p<0.001, OR=0.08). A significant positive correlation was seen between CC (p<0.001, OR=15.10) and CG (p<0.001) genotypes and AD at codons 10 and 25, respectively. The most frequent haplotypes among patients was TGF-β1 CG which was significantly higher than in the control subjects (50% in patients vs. 39.9% in controls, p=0.042). A significant increase was found in the frequency of TGF-β CC (36% in patients vs. 7.6% in controls, p<0.001) and TC (14% in patients vs. 0% in controls, p<0.001) haplotypes among patients compared to controls. By contrast, the TGF-β1 TG haplotype was significantly lower in patients than controls (0% in patients vs. 52.5% in controls, p<0.001). There were no significant differences in the frequency of alleles, genotypes and haplotypes of the IL-10 gene.
We found a strong association between the polymorphisms of the TGF-β1 gene at codon 10 and codon 25 positions and atopic dermatitis.
特应性皮炎是一种炎症性皮肤病，其中遗传和环境因素相互作用，决定疾病的易感性和严重程度。
本研究旨在确定特应性皮炎与白细胞介素-10（IL-10）和转化生长因子-β1（TGF-β1）基因多态性之间的关联。
采用聚合酶链反应-序列特异性引物（PCR-SSP）方法，对89例特应性皮炎患者和138例对照组患者进行IL-10和TGF-β1编码基因的等位基因和基因型频率检测。
患者中TGF-β1第10位密码子/C等位基因频率显著增加（p<0.001，比值比[OR]=6.77），而同一位置T等位基因频率显著降低（p<0.001，OR=0.14）。对照组中TGF-β1第25位密码子/G等位基因频率显著高于患者（p<0.001，OR=0.08）。在第10和25位密码子处，CC基因型（p<0.001，OR=15.10）和CG基因型（p<0.001）分别与特应性皮炎呈显著正相关。患者中最常见的单倍型是TGF-β1 CG，显著高于对照组（患者为50%，对照组为39.9%，p=0.042）。与对照组相比，患者中TGF-β CC单倍型（患者为36%，对照组为7.6%，p<0.001）和TC单倍型（患者为14%，对照组为0%，p<0.001）的频率显著增加。相比之下，患者中TGF-β1 TG单倍型显著低于对照组（患者为0%，对照组为52.5%，p<0.001）。IL-10基因的等位基因、基因型和单倍型频率无显著差异。
我们发现TGF-β1基因第10和25位密码子的多态性与特应性皮炎之间存在密切关联。
