Abstract：
Trachoma, caused by Chlamydia trachomatis, is the most common infectious blindness in the world and is present in indigenous Mayan from Chiapas (Mexico). Inflammatory genes are activated when suffering from trachoma, thus some polymorphisms could increase the susceptibility to develop irreversible blindness. This study aimed to evaluate the genetic risk of developing late-stage trachoma in Mayan ethnic groups. In a case-control study (n = 51 vs n = 102, respectively), the following single-nucleotide polymorphisms (SNPs) in genes related to inflammation were analysed: HSD11B1 (rs11807619), HSD11B1 (rs932335), ABCG2 (rs2231142), SLCO1B1 (rs4149056), IL-10 (rs1800890), TNF (rs1800629), MMP2 (rs243865) and ACE. Three SNPs were associated with late-stage trachoma risk: (i) the T allele of rs11807619, (ii) the C allele of rs932335, which are linked to the HSD11B1 gene (OR = 22.5-27.3), particularly in men when adjusts for gender (OR = 16-16.7); and (iii) D allele of rs4340 in the ACE gene (OR = 5.2-5.3). In fact, significant linkage disequilibrium demonstrated association between ACE gene and HSD11B1 SNPs (r = 0.17-0.179; P = 0.0048-0.0073). Two SNPs HSD11B1 gene (P = 0.013 vs 0.0039) and HSD11B1-ACE haplotypes showed association with late-stage trachoma in Mayan ethnic groups.
摘要：
沙眼,由沙眼衣原体引起，是世界上最常见的感染性失明，存在于恰帕斯州（墨西哥）的土著玛雅人中。当患有沙眼时，炎症基因被激活，因此，一些多态性可能会增加发生不可逆失明的易感性。这项研究旨在评估玛雅族裔发展晚期沙眼的遗传风险。在病例对照研究中(分别为n=51和n=102)，分析了与炎症相关的基因中的以下单核苷酸多态性（SNP）：HSD11B1（rs11807619），HSD11B1(rs932335),ABCG2(rs2231142),SLCO1B1(rs4149056),IL-10(rs1800890),TNF（rs1800629），MMP2（rs243865）和ACE。三个SNP与晚期沙眼风险相关：（i）rs11807619的T等位基因，（ii）rs932335的C等位基因，与HSD11B1基因相关（OR=22.5-27.3），特别是在男性中，当调整性别时（OR=16-16.7）；（iii）ACE基因中rs4340的D等位基因（OR=5.2-5.3）。事实上,显著的连锁不平衡表明ACE基因与HSD11B1SNP之间存在关联(r=0.17-0.179;P=0.0048-0.0073)。两个SNPHSD11B1基因（P=0.013vs0.0039）和HSD11B1-ACE单倍型与玛雅族晚期沙眼相关。
