Turan H, Bulbul Baskan E, Yakut T, Karkucak M, Tunali S, Saricaoglu H
Uludag University Medical Faculty, Department of Medical Genetics, Bursa, Turkey.
Bratisl Lek Listy. 2011;112(5):260-3.
"Toll like receptor" (TLR) 9 functions in stepping in of native immune system against different viral and bacterial pathogens and induction of adaptive immune response effectively. TLR 9 gene polymorphism makes host predisposed to microbial pathogens by affecting thefunctional capabilities of the receptor.
We aimed to determine if TLR 9 gene polymorphism makes a predisposition to "erythema multiforme" (EM), "Stevens Johnson syndrome" (SJS) and "Stevens Johnson syndrome/toxic epidermal necrolysis overlap syndrome" (SJS/TEN).
Forty-two patients clinically and/or histopathologically diagnosed as EM, SJS, and SJS/TEN overlap syndrome and 50 healthy control subjects were enrolled in our study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was applied for TLR 9 gene 1237 thymine/cytosine (T/C) polymorphism. Genotypes were determined according to bands occurring on agarose gel electrophoresis.
In patients group, the frequencies of TT and TC genotypes were 73.8% and 26.2% while CC genotype wasn't detected. In control group, the frequencies of TT, TC and CC genotypes were 74%, 24%, and 2%. There wasn't a statistically significant difference for TT, TC and CC genotypes between patients and controls. The frequencies of T and C alleles were 84.5% and 15.5% in patients and 86% and 14% in controls, respectively.
Our results showed that there isn't any association between TLR gene polymorphism and EM, SJS, SJS/TEN overlap syndrome (Tab. 1, Fig. 1, Ref. 30).
“Toll样受体”（TLR）9在天然免疫系统抵御不同病毒和细菌病原体过程中发挥作用，并有效诱导适应性免疫反应。TLR 9基因多态性通过影响该受体的功能能力，使宿主易患微生物病原体感染。
我们旨在确定TLR 9基因多态性是否会使人易患“多形红斑”（EM）、“史蒂文斯-约翰逊综合征”（SJS）和“史蒂文斯-约翰逊综合征/中毒性表皮坏死松解重叠综合征”（SJS/TEN）。
42例临床和/或组织病理学诊断为EM、SJS及SJS/TEN重叠综合征的患者和50名健康对照者纳入我们的研究。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测TLR 9基因1237位胸腺嘧啶/胞嘧啶（T/C）多态性。根据琼脂糖凝胶电泳上出现的条带确定基因型。
患者组中，TT和TC基因型的频率分别为73.8%和26.2%，未检测到CC基因型。对照组中，TT、TC和CC基因型的频率分别为74%、24%和2%。患者和对照组之间TT、TC和CC基因型无统计学显著差异。患者中T和C等位基因的频率分别为84.5%和15.5%，对照组中分别为86%和14%。
我们的结果表明，TLR基因多态性与EM、SJS、SJS/TEN重叠综合征之间不存在任何关联（表1，图1，参考文献30）。
