Clinical Science
Association of TLR4 polymorphisms with primary open angle glaucoma in Chinese population
Shu Yi, Xu Jiaxin, Yang Chen, Chen Yilian, Luo Qian, Gong Bo, Yang Zhenglin, Huang Guo
Published 2020-08-10
Cite as Chin J Exp Ophthalmol, 2020, 38(8): 659-664. DOI: 10.3760/cma.j.cn115989-20191120-00505
Abstract
ObjectiveTo detect whether Toll-like receptor 4 (TLR4) polymorphisms contributed to primary open angle glaucoma (POAG) in a Chinese population.
MethodsA 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.
ResultsAllelic 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 =0.062 5-16.002 2, 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.
ConclusionsPolymorphisms rs4986790 and rs4986791 in the TLR4 gene are not related to POAG in the Chinese cohort.
Key words:
Primary open angle glaucoma; Toll-like receptor 4; Gene; Single nucleotide polymorphisms; rs4986790; rs4986791; Association study
Contributor Information
Shu Yi
School of Medical Technology, Chengdu University of Traditional Chinese Medicine, Chengdu 610075, China
Xu Jiaxin
The Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 610072, China
Yang Chen
The Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 610072, China
Chen Yilian
Department of Ophthalmology, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 610072, China
Luo Qian
Department of Ophthalmology, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 610072, China
Gong Bo
The Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 610072, China
Yang Zhenglin
The Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 610072, China
Huang Guo
The Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 610072, China
