RT Journal Article SR Electronic T1 The Arg753Gln polymorphism of the human Toll-like receptor 2 gene in tuberculosis disease JF European Respiratory Journal JO Eur Respir J FD European Respiratory Society SP 219 OP 223 DO 10.1183/09031936.03.00061703 VO 23 IS 2 A1 A.C. Ogus A1 B. Yoldas A1 T. Ozdemir A1 A. Uguz A1 S. Olcen A1 I. Keser A1 M. Coskun A1 A. Cilli A1 O. Yegin YR 2004 UL http://erj.ersjournals.com/content/23/2/219.abstract AB 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. This study was supported by Akdeniz University Research Foundation, Akdeniz University, Antalya, Turkey (2002.01.0103.008).