Can Ceren, Yazıcıoğlu Mehtap, Gürkan Hakan, Tozkır Hilmi, Görgülü Adnan, Süt Necdet Hilmi
Department of Pediatric Allergy and Immunology, Trakya University School of Medicine, Edirne, Turkey.
Department of Genetics, Trakya University School of Medicine, Edirne, Turkey.
Balkan Med J. 2017 May 5;34(3):232-238. doi: 10.4274/balkanmedj.2015.1253. Epub 2017 Apr 6.
Atopic dermatitis is the most common chronic inflammatory skin disease. A complex interaction of both genetic and environmental factors is thought to contribute to the disease.
To evaluate whether single nucleotide polymorphisms in the TLR2 gene c.2258C>T (R753Q) (rs5743708) and TLR2 c.-148+1614T>A (A-16934T) (rs4696480) (NM_0032643) are associated with atopic dermatitis in Turkish children.
Case-control study.
The study was conducted on 70 Turkish children with atopic dermatitis aged 0.5-18 years. The clinical severity of atopic dermatitis was evaluated by the severity scoring of atopic dermatitis index. Serum total IgE levels, specific IgE antibodies to inhalant and food allergens were measured in both atopic dermatitis patients and controls, skin prick tests were done on 70 children with atopic dermatitis. Genotyping for TLR2 (R753Q and A-16934T) single nucleotide polymorphisms was performed in both atopic dermatitis patients and controls.
Cytosine-cytosine and cytosin-thymine genotype frequencies of the TLR2 R753Q single nucleotide polymorphism in the atopic dermatitis group were determined as being 98.6% and 1.4%, cytosine allele frequency for TLR2 R753Q single nucleotide polymorphism was determined as 99.29% and the thymine allele frequency was 0.71%, thymine-thymine, thymine-adenine, and adenine-adenine genotype frequencies of the TLR2 A-16934T single nucleotide polymorphism were 24.3%, 44.3%, and 31.4%. The thymine allele frequency for the TLR2 A-16934T single nucleotide polymorphism in the atopic dermatitis group was 46.43%, and the adenine allele frequency was 53.57%, respectively. There was not statistically significant difference between the groups for all investigated polymorphisms (p>0.05). For all single nucleotide polymorphisms studied, allelic distribution was analogous among atopic dermatitis patients and controls, and no significant statistical difference was observed. No homozygous carriers of the TLR2 R753Q single nucleotide polymorphism were found in the atopic dermatitis and control groups.
The TLR2 (R753Q and A-16934T) single nucleotide polymorphisms are not associated with atopic dermatitis in a group of Turkish patients.
特应性皮炎是最常见的慢性炎症性皮肤病。遗传和环境因素的复杂相互作用被认为与该病有关。
评估TLR2基因c.2258C>T（R753Q）（rs5743708）和TLR2 c.-148+1614T>A（A-16934T）（rs4696480）（NM_0032643）中的单核苷酸多态性是否与土耳其儿童的特应性皮炎相关。
病例对照研究。
对70名年龄在0.5至18岁的土耳其特应性皮炎患儿进行了研究。通过特应性皮炎指数的严重程度评分来评估特应性皮炎的临床严重程度。在特应性皮炎患者和对照组中均测量了血清总IgE水平、针对吸入性和食物过敏原的特异性IgE抗体，并对70名特应性皮炎患儿进行了皮肤点刺试验。对特应性皮炎患者和对照组均进行了TLR2（R753Q和A-16934T）单核苷酸多态性的基因分型。
特应性皮炎组中TLR2 R753Q单核苷酸多态性的胞嘧啶-胞嘧啶和胞嘧啶-胸腺嘧啶基因型频率分别确定为98.6%和1.4%，TLR2 R753Q单核苷酸多态性的胞嘧啶等位基因频率确定为99.29%，胸腺嘧啶等位基因频率为0.71%，TLR2 A-16934T单核苷酸多态性的胸腺嘧啶-胸腺嘧啶、胸腺嘧啶-腺嘌呤和腺嘌呤-腺嘌呤基因型频率分别为24.3%、44.3%和31.4%。特应性皮炎组中TLR2 A-16934T单核苷酸多态性的胸腺嘧啶等位基因频率为46.43%，腺嘌呤等位基因频率为53.57%。对于所有研究的多态性，两组之间无统计学显著差异（p>0.05）。对于所有研究的单核苷酸多态性，特应性皮炎患者和对照组的等位基因分布相似，未观察到显著的统计学差异。在特应性皮炎组和对照组中均未发现TLR2 R753Q单核苷酸多态性的纯合携带者。
在一组土耳其患者中，TLR2（R753Q和A-16934T）单核苷酸多态性与特应性皮炎无关。
