Tomiyama Ryuichi, Meguro Akira, Ota Masao, Katsuyama Yoshihiko, Nishide Tadayuki, Uemoto Riyo, Iijima Yasuhito, Ohno Shigeaki, Inoko Hidetoshi, Mizuki Nobuhisa
Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Kanagawa, Japan.
Hum Immunol. 2009 Jan;70(1):41-4. doi: 10.1016/j.humimm.2008.10.014. Epub 2008 Nov 17.
Behçet's disease (BD) is a chronic systemic inflammatory disorder characterized by recurrent ocular symptoms, oral and genital ulcers, and skin lesions. The etiology of BD is still uncertain, but genetic and environmental factors likely both play an important role in BD development. In the present study, we investigated whether polymorphisms of Toll-like receptor 2 (TLR2), previously reported to recognize BD candidate antigens, are associated with BD. Two hundred Japanese patients with BD and 128 Japanese healthy controls were recruited. We genotyped five single-nucleotide polymorphisms (SNPs) in the TLR2 gene and assessed the allele/genotype diversity between cases and controls for all SNPs. No significant differences in the frequency of TLR2 alleles, genotypes, and haplotypes in the BD cases were detected compared with the controls. These data indicate that TLR2 polymorphisms do not play an important role in the development of BD.
白塞病（BD）是一种慢性全身性炎症性疾病，其特征为反复出现眼部症状、口腔和生殖器溃疡以及皮肤病变。BD的病因仍不确定，但遗传和环境因素可能在BD的发病过程中均起重要作用。在本研究中，我们调查了先前报道可识别BD候选抗原的Toll样受体2（TLR2）的多态性是否与BD相关。招募了200名日本BD患者和128名日本健康对照者。我们对TLR2基因中的五个单核苷酸多态性（SNP）进行了基因分型，并评估了所有SNP在病例组和对照组之间的等位基因/基因型多样性。与对照组相比，未检测到BD病例中TLR2等位基因、基因型和单倍型频率的显著差异。这些数据表明，TLR2多态性在BD的发病过程中不发挥重要作用。
