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 agematched 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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The clinical importance of sequence variations in the ABCA4 gene has been extensively discussed during the last decade. Mutations in the ABCA4 gene are involved in several forms of inherited retinal degenerations. We screened all 50 exons of the ABCA4 gene in a cohort of 5 Stargardt Disease (STGD) and 35 autosomal recessive retinitis pigmentosa (arRP) patients of Turkish descent to assess the nature of ABCA4 mutant alleles in this population. Our results revealed the presence of three novel mutations: c.160T>G (p.C54G), c.2486C>T (p.T829M), and c.973-6C>A; two mutations previously reported, c.634C>T (p.R212C) and c.4253+4C>T, and several polymorphic changes in the ABCA4 gene among Turkish patients affected with Stargardt and arRP. To our knowledge this report represents the first published study of ABCA4 mutations in the Turkish population resulting in STGD.