Bustamante Juan, Tamayo Eduardo, Flórez Santiago, Telleria Juan J, Bustamante Elena, López Javier, San Román J Alberto, Alvarez F Javier
Servicio de Cirugía Cardiaca, Instituto de Ciencias del Corazón (ICICOR), Hospital Clínico Universitario de Valladolid, Valladolid, España.
Rev Esp Cardiol. 2011 Nov;64(11):1056-9. doi: 10.1016/j.recesp.2011.02.024. Epub 2011 Jul 23.
The ability to respond to the ligands of toll-like receptors (TLR) could be affected by single nucleotide polymorphisms in TLR codifying genes. The influence of the polymorphisms TLR2 (R753Q, R677W), TLR4 (D299G, T399I) and CD14 (C-159T) was consecutively studied in 65 patients with infective endocarditis. The control group (n=66) consisted of healthy volunteers. All the polymorphisms were genotyped by means of restriction analysis after their amplification. An association between endocarditis and variants of TLR2 R753Q (P <.001) was observed, but no association with other polymorphisms was found. The TLR2 R753Q co-dominant (odds ratio=13.33), recessive (odds ratio=9.12) and dominant (odds ratio=3.65) genotypes showed a positive association with the infective endocarditis phenotype. The polymorphism TLR2 R753Q was associated with a greater susceptibility towards the development of infective endocarditis. Further studies are required to validate these results and identify other genetic risk factors.
对Toll样受体（TLR）配体的应答能力可能会受到TLR编码基因中单核苷酸多态性的影响。我们连续研究了65例感染性心内膜炎患者中TLR2（R753Q、R677W）、TLR4（D299G、T399I）和CD14（C-159T）多态性的影响。对照组（n = 66）由健康志愿者组成。所有多态性在扩增后通过限制性分析进行基因分型。观察到心内膜炎与TLR2 R753Q变异之间存在关联（P <.001），但未发现与其他多态性存在关联。TLR2 R753Q共显性（优势比=13.33）、隐性（优势比=9.12）和显性（优势比=3.65）基因型与感染性心内膜炎表型呈正相关。TLR2 R753Q多态性与感染性心内膜炎发生的易感性增加有关。需要进一步研究来验证这些结果并确定其他遗传危险因素。
