TLR 1,3 Receptor Gene Polymorphism in Egyptian Patients With Behcets Disease

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Abstract

Behçet’s disease (BD) is a multisystem inflammatory disease characterized by recurrent orogenital ulcerations, ocular inflammations, and skin lesions. The ethology of the disease is currently unknown but evidences suggested that there is a strong genetic component mediating the chronicity of the disorder. The disease is characterized by infiltration of lymphocytes and neutrophils into the affected organs. APCs (Antigen Presenting Cells): It express receptor called (TLR) Toll like receptor which are one of PRR (pattern recognition receptor) and essential components of the innate immune system and they are a class of proteins play a key role in the innate immune system ,recognize structurally conserved molecules derived from microbes. This study aimed at investigating the possible associations between two SNPs (Single Nucleotide Polymorphisms) at TLR1 gene and TLR3 gene and BD in 87 Egyptian patients with BD and 87 healthy controls. Methodology: Blood samples were collected and DNA extraction done. Genotyping of TLR1 gene (1805 T/G), and TLR3 gene (1377 C/T) were performed using (PCR-RFLP) and we found In TLR1 gene (1805 T/G) • Patients with BD had significantly lower frequency of TT genotype and significantly higher frequency of TG , GG genotypes than healthy control • Patients with arthritis had significantly lower frequency of TT & TG, patients with activity had significantly lower frequency of GG genotype. • Patients with activity had significantly lower frequency of T allele, it might be protective allele and patients with arthritis had significantly lower frequency of G allele, it might be protective allele. In TLR3 gene (1377 C/T) • Patients with BD had significantly lower frequency of CC genotype and higher frequency of CT genotype than healthy control. • Patients with vascular involvement had significantly lower frequency of TT genotype. • BD patients with vascular involvement had significantly lower frequency of C allele than patients without involvement it might be protective allele. In conclusion, this preliminary study indicates that there are some genotypes in TLR1 gene (1805 T/G) ,and TLR3 gene (1377 C/T) over-represented , other less presented in BD indicating that they may play a role in BD susceptibility in Egyptian patients.
埃及Behcets病患者tlr1,3受体基因多态性
behet病(BD)是一种多系统炎症性疾病,以复发性口生殖器溃疡、眼部炎症和皮肤病变为特征。该疾病的行为学目前尚不清楚,但有证据表明,有很强的遗传成分介导了该疾病的慢性。这种疾病的特点是淋巴细胞和中性粒细胞浸润到受累器官。抗原呈递细胞(APCs):它表达Toll样受体(TLR),是PRR(模式识别受体)的一种,是先天免疫系统的重要组成部分,是一类在先天免疫系统中起关键作用的蛋白质,识别来自微生物的结构保守分子。本研究旨在调查87名埃及BD患者和87名健康对照者的TLR1基因和TLR3基因的两个snp(单核苷酸多态性)与BD之间的可能关联。方法:采集血样,提取DNA。采用PCR-RFLP技术对TLR1基因(1805 T/G)和TLR3基因(1377 C/ G)进行分型,发现TLR1基因(1805 T/G)中,BD患者TT基因型频率显著低于健康对照组,TG、GG基因型频率显著高于健康对照组。关节炎患者TT、TG基因型频率显著低于健康对照组,活动者GG基因型频率显著低于健康对照组。•活动者T等位基因频率显著降低,可能为保护性等位基因;关节炎患者G等位基因频率显著降低,可能为保护性等位基因。在TLR3基因(1377 C/T)中,BD患者CC基因型频率显著低于健康对照组,CT基因型频率显著高于健康对照组。•血管受累患者TT基因型的频率明显较低。•有血管受累的BD患者C等位基因频率明显低于无血管受累的BD患者,可能为保护性等位基因。综上所述,本初步研究提示,TLR1基因(1805 T/G)和TLR3基因(1377 C/T)部分基因型在BD中过度存在,其他基因型在BD中较少出现,提示它们可能在埃及患者BD易感性中起作用。
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