Ogus A C, Yoldas B, Ozdemir T, Uguz A, Olcen S, Keser I, Coskun M, Cilli A, Yegin O
Dept of Chest Medicine, Akdeniz University Medical Faculty, Turkey.
Eur Respir J. 2004 Feb;23(2):219-23. doi: 10.1183/09031936.03.00061703.
Toll-like receptor 2 (TLR2), a member of the Toll-like receptor family, plays an important role in recognition of, and subsequent immune response activation against, mycobacteria. The genetic polymorphism of TLR2 (arginine to glutamine substitution at residue 753 (Arg753Gln)) has been associated with a negative influence on TLR2 function, which may, in turn, determine the innate host response to mycobacteria. The aim of the present study was to investigate the Arg753Gln single nucleotide polymorphism of the TLR2 gene in tuberculosis (TB) patients compared to healthy controls. A retrospective case/control study was carried out. The Arg753Gln polymorphism of the TLR2 gene was studied in 151 TB patients compared to 116 ethnically and age-matched healthy control subjects. The TLR2 polymorphism (adenine (A) allele) was observed in 17.9 and 7.7% of TB patients and controls, respectively. When the ratios of the three genotypes were compared between the two groups, the AA genotype was found to be more significantly associated with TB. Allele frequencies for guanine (G) and A were found to be 0.95 and 0.05 in the control group and 0.86 and 0.14 in the TB patient group, respectively. The risk of developing TB disease was increased 6.04- and 1.60-fold for carriers of the AA and GA genotypes, respectively. In conclusion, the present data suggest that the arginine to glutamine substitution at residue 753 polymorphism of the Toll-like receptor 2 gene influences the risk of developing tuberculosis.
Toll样受体2（TLR2）是Toll样受体家族的成员之一，在识别分枝杆菌以及随后激活针对分枝杆菌的免疫反应中发挥重要作用。TLR2的基因多态性（第753位残基精氨酸替换为谷氨酰胺（Arg753Gln））与TLR2功能的负面影响相关，这反过来可能决定宿主对分枝杆菌的固有反应。本研究的目的是调查结核病（TB）患者与健康对照相比TLR2基因的Arg753Gln单核苷酸多态性。开展了一项回顾性病例对照研究。在151例TB患者中研究了TLR2基因的Arg753Gln多态性，并与116名种族和年龄匹配的健康对照者进行比较。分别在17.9%的TB患者和7.7%的对照者中观察到TLR2多态性（腺嘌呤（A）等位基因）。当比较两组三种基因型的比例时，发现AA基因型与TB的相关性更显著。在对照组中鸟嘌呤（G）和A的等位基因频率分别为0.95和0.05，在TB患者组中分别为0.86和0.14。AA和GA基因型携带者患TB疾病的风险分别增加了6.04倍和1.60倍。总之，目前的数据表明，Toll样受体2基因第753位残基精氨酸替换为谷氨酰胺的多态性会影响患结核病的风险。
