TLR4基因单核苷酸多态性与中国汉族人群原发性开角型青光眼关联研究

Association of TLR 4 polymorphisms with primary open angle glaucoma in Chinese population

目的探讨Toll样受体4(TLR 4)基因单核苷酸多态性(SNPs)是否与中国汉族人群原发性开角型青光眼(POAG)有关联。方法采用病例对照关联研究设计,2014年5月至2018年3月在四川省人民医院收集样本数据,选取799例POAG患者及799名正常对照,用单碱基延伸法(SNaPshot)对已报道的TLR4基因的2个标签SNPs位点rs4986790和rs4986791进行基因分型。χ2检验用于评估2个SNPs的基因型和等位基因频率。结果等位基因关联分析显示,在POAG病例组和正常对照组之间TLR 4基因SNP位点rs4986790(P=0.317)和rs4986791(OR=1.000,95%CI=0.0625~16.0022,P=1.000)的等位基因分布中未检测到显著关联。在病例组与对照组之中对这2个SNPs进行条件分析,未显示出基因型和等位基因频率的显著差异。在4种不同的遗传模型下,包括纯合子、杂合子、显性和隐性模型,同样未检测到2个SNPs与POAG的关联。结论TLR4基因的SNPs位点rs4986790和rs4986791与中国汉族人群的POAG无关。

Objective To detect whether Toll-like receptor 4(TLR4)polymorphisms contributed to primary open angle glaucoma(POAG)in a Chinese population.Methods A Chinese cohort,including 799 unrelated POAG patients and 799 unrelated controls,was enrolled in our case-control association study.The data was collected at Sichuan Provincial People's Hospital from May 2014 to March 2018.TLR4 functional single nucleotide polymorphisms(SNPs),including rs4986790 and rs4986791,were genotyped by SNaPshot method.Genotype and allele frequencies of the two SNPs were evaluated.This study was approved by the Institutional Review Boards of the Sichuan Academy of Medical Sciences&Sichuan Provincial People's Hospital(No.2016-58),and complied with the guidelines of the Declaration of Helsinki.Written informed consents were obtained from all subjects prior to the study.Results Allelic association analysis revealed that there were no significant association detected in the allelic distributions between the POAG cases and controls for SNPs rs4986790(P=0.317)and rs4986791(OR=1.000,95%CI=0.0625-16.0022,P=1.000)in the TLR4 gene.Conditional analysis of the two SNPs did not show any significant difference in genotype and allele frequency between the case and the control groups.No association of the two SNPs with POAG was detected under four different genetic models,including homozygote,heterozygote,dominant and recessive models.Conclusions Polymorphisms rs4986790 and rs4986791 in the TLR 4 gene are not related to POAG in the Chinese cohort.