Objective

To investigate differences in SNPs in TLR genes between people who had keratitis and controls in an Indian population.

Methods

145 cases of keratitis and 189 matched controls were recruited. DNA was extracted from peripheral blood. Single nucleotide polymorphisms (SNP) in TLR2 (n = 6), TLR4 (n = 15), TLR5 (n = 13) and TLR9 (n = 10) were analysed. The risk of developing keratitis was assessed based on allele, genotype and haplotype associations.

Results

For all cases of keratitis, the TLR4 SNP rs4986791 TC genotype frequency was significantly higher in cases (p = 0.006, OR = 1.96, 95 % CI 1.19–3.2). Including cases of only microbial keratitis (MK) revealed that genotypes in TLR2 SNP rs5743706 TA (p = 0.0001; OR = 8.61; 95 % CI 2.59–28.56)), TLR4 SNP s4986791 TC (p = 0.002; OR = 2.65; 95 % CI 1.39–5.07) were significantly more common for MK, whereas the TLR5 SNP rs2241096 A allele (p = 0.00316, OR = 0.42, 95 % CI 0.2−0.9286) and GA genotype (p = 0.016; OR = 0.45; 95 % CI 0.23−0.86) was significantly less common in MK cases. The TLR2 SNP rs5743706 genotype TA was significantly less common in the sterile keratitis (SK) group (p = 0.004, OR = 0.43, 95 %CI 0.24−0.77). Haplotype analysis of MK compared to controls showed that TLR2 AT was more common in controls (p = 0.003); TLR4 ACAC was more common in cases (p = 0.004); TLR5 TGGCA was more common in controls (p = 0.001).

Conclusion

The present study revealed multiple associations between variants across TLR genes, which may have implications for understanding the underlying host factors, risk of developing keratitis and molecular pathogenesis in keratitis.

中文翻译：

---

角膜炎患者Toll样受体基因多态性

客观的

调查印度人群中角膜炎患者和对照组之间TLR基因SNP 的差异。

方法

招募了 145 名角膜炎病例和 189 名匹配的对照。从外周血中提取DNA。分析了TLR2 (n = 6)、TLR4 (n = 15)、TLR5 (n = 13) 和TLR9 (n = 10) 中的单核苷酸多态性 (SNP) 。基于等位基因、基因型和单倍型关联评估发生角膜炎的风险。

结果

对于所有角膜炎病例，TLR4 SNP rs4986791 TC 基因型频率在病例中显着更高（p = 0.006，OR = 1.96，95 % CI 1.19–3.2）。仅包括微生物性角膜炎 (MK) 的病例显示TLR2 SNP rs5743706 TA中的基因型(p = 0.0001; OR = 8.61; 95 % CI 2.59–28.56)), TLR4 SNP s4986791 TC (p = 0.26 ; % OR = 8.61) CI 1.39–5.07) 对 MK 显着更常见，而 TLR5 SNP rs2241096 A 等位基因 (p = 0.00316, OR = 0.42, 95 % CI 0.2-0.9286) 和 GA 基因型 (p = 0.016; OR = 9) 0.23-0.86) 在 MK 病例中明显不太常见。该TLR2SNP rs5743706 基因型 TA 在无菌性角膜炎 (SK) 组中明显不太常见（p = 0.004，OR = 0.43，95%CI 0.24-0.77）。与对照相比，MK 的单倍型分析表明，TLR2 AT 在对照中更为常见（p = 0.003）；TLR4 ACAC 在病例中更常见（p = 0.004）；TLR5 TGGCA 在对照中更常见（p = 0.001）。

结论

本研究揭示了跨TLR基因的变异之间的多重关联，这可能对理解潜在的宿主因素、角膜炎的风险和角膜炎的分子发病机制具有重要意义。