Gergely P, Blazsek A, Weiszhár Z, Pazár B, Poór G
1st Department of Rheumatology and Metabolic Osteology, National Institute of Rheumatology and Physiotherapy, Frankel Leó u. 38-40, H-1023 Budapest, Hungary.
Rheumatology (Oxford). 2006 Oct;45(10):1194-6. doi: 10.1093/rheumatology/kel062. Epub 2006 Mar 27.
Bacteria have long been suggested as aetiological factors in the genetically susceptible host in spondylarthropathies, including ankylosing spondylitis (AS) and reactive arthritis (ReA). Variability of the Toll-like receptor 4 (TLR4) gene has been shown to play a role in the inflammatory response to certain bacterial infections. We investigated whether TLR4 Asp299Gly and Thr399Ile polymorphisms contribute to the genetic background of spondylarthropathies in a cohort of Hungarian patients with AS and ReA.
DNA was obtained from patients with AS (n=138), ReA (n=91) and ethnically matched healthy controls (n=140). Genotyping was carried out by polymerase chain reaction-restriction fragment length polymorphism analysis and the results were confirmed by direct sequencing.
No significant differences in allele or genotype frequencies were observed between controls and either the AS patients or the ReA patients. Clinical characteristics of these groups were unrelated to the presence of any of these polymorphisms.
Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms do not contribute to disease susceptibility in either AS or ReA. Functional abnormalities of the TLR4 signalling pathway suggested in spondylarthropathies seem not to be genetically determined by these two common polymorphisms.
长期以来，细菌一直被认为是包括强直性脊柱炎（AS）和反应性关节炎（ReA）在内的脊柱关节病中遗传易感宿主的病因。Toll样受体4（TLR4）基因的变异性已被证明在对某些细菌感染的炎症反应中起作用。我们调查了TLR4 Asp299Gly和Thr399Ile多态性是否对一组匈牙利AS和ReA患者的脊柱关节病遗传背景有影响。
从AS患者（n = 138）、ReA患者（n = 91）和种族匹配的健康对照者（n = 140）中获取DNA。通过聚合酶链反应-限制性片段长度多态性分析进行基因分型，并通过直接测序确认结果。
在对照组与AS患者或ReA患者之间，未观察到等位基因或基因型频率的显著差异。这些组的临床特征与这些多态性的存在无关。
Toll样受体4 Asp299Gly和Thr399Ile多态性对AS或ReA的疾病易感性均无影响。脊柱关节病中提示的TLR4信号通路功能异常似乎并非由这两种常见多态性在基因上所决定。
