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Copyright ©ERS Journals Ltd 2004
The Arg753Gln polymorphism of the human Toll-like receptor 2 gene in tuberculosis disease
Depts of 1 Chest Medicine, 2 Paediatric Immunology, and 3 Medical Biology and Genetics, Akdeniz University Medical Faculty, and 4 State Tuberculosis Control Centre, Antalya, Turkey
CORRESPONDENCE: A.C. Ogus, Fener mahallesi, Tekelioglu Caddesi, Sema apt. No: 54/5, 07100, Antalya, Turkey. Fax: 90 242 2274490. E-mail: candanogus@akdeniz.edu.tr
Keywords: immunity, polymorphism, Toll-like receptor, tuberculosis
Received: June 2, 2003
Accepted August 28, 2003
This study was supported by Akdeniz University Research Foundation, Akdeniz University, Antalya, Turkey (2002.01.0103.008).
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.
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