Association of toll-like receptor 2 gene polymorphisms with normal tension glaucoma

Abstract

Purpose: Toll-like receptor 2 (TLR2) is a transmembrane receptor that mediates immune responses to exogenous and endogenous ligands, and interacts with heat-shock proteins, which are reportedly involved in normal tension glaucoma (NTG). We investigated whether TLR2 polymorphisms are associated with NTG.

Methods: 200 Japanese patients with NTG and 128 healthy Japanese controls were recruited. We genotyped five single-nucleotide polymorphisms (SNPs) in the TLR2 gene and assessed the allele and haplotype diversities between cases and controls for all SNPs.

Results: No significant differences in the frequency of TLR2 alleles and haplotypes in the NTG cases were detected, compared with the controls.

Conclusions: Our study showed no evidence for an association between TLR2 polymorphisms and NTG. TLR2 polymorphisms may not play an important role in NTG pathogenesis in the Japanese population.

Figure 1

A: Linkage disequilibrium plot of five SNPs of the TLR2 gene in NTG patients and controls. A schematic of TLR2 is shown as a black line, with boxes representing its three exons. The locations of the selected SNPs are indicated by the dotted lines. The D’ value corresponding to each SNP pair is expressed as a percentage and shown within the respective square. Higher D’ values are indicated in brighter red. B: Haplotype structure and diversity of TLR2. Common haplotypes of the two blocks are listed. Haplotype frequencies observed in NTG patients and controls are given in parentheses. The line thickness reflects the frequency of adjacent block haplotype distribution (thick lines, >10%; thin lines, 1%–10%).