Background:The present study aimed to investigate the association of several single nucleotide polymorphisms (SNPs) within the Toll-like receptor 4 (TLR4) gene and additional gene-environment interaction with primary open angle glaucoma (POAG) risk. Methods:Tests for Hardy-Weinberg equilibrium in controls and haplotype analysis were performed using SNPstats (https://www.snpstats.net). Generalized multifactor dimensionality reduction (GMDR) was performed to test the interaction effects among four SNPs within the TLR4 gene and environmental factors. Logistic regression was performed to calculate the odds ratios (ORs) (95% confidence interval [CI]) for association between four SNPs within the TLR4 gene and POAG risk. Results:The POAG risk was significantly higher in carriers with the T allele of rs4986791 and the T allele of rs2149356 within the TLR4 gene than in those with the wild-type genotype, adjusted ORs (95% CI) were 1.65 (1.23-2.12) and 1.70(1.16-2.31). The GMDR model suggested a significant two-locus model (p = 0.0010) involving rs2149356 and alcohol drinking. Alcohol drinkers with the rs2149356-GT +TT genotype within the TLR4 gene have the highest POAG risk compared to never alcohol drinkers with the rs2149356-GG genotype (OR = 2.62; 95% CI = 1.48-3.78) after covariates adjustment. However, the study did not find a significant any-locus model involving SNP and smoking. In all samples, the haplotype rs2149356-G-rs7873784-C was observed most frequently in two groups (47.47% and 48.21% for the POAG patients and controls, respectively). The results also indicated that no significant haplotype was associated with POAG risk. Conclusions:The minor alleles of rs4986791 and rs2149356 within the TLR4 gene, as well as interaction between rs2149356 and alcohol drinking, were associated with an increased POAG risk. K E Y W O R D Shaplotype, interaction, primary open angle glaucoma, single nucleotide polymorphisms, tolllike receptors Huijuan Liu and Shixin Qi contributed equally to this work.
Background: Although many publications in diabetic retinopathy (DR) have been reported, there is no bibliometric analysis. Purpose: To perform a bibliometric analysis in the field of diabetic retinopathy (DR) research, to characterize the current international status of DR research, to identify the most effective factors involved in this field, and to explore research hotspots in DR research. Methods: Based on the Web of Science Core Collection (WoSCC), a bibliometric analysis was conducted to investigate the publication trends in research related to DR. Knowledge maps were constructed by VOSviewer v.1.6.10 to visualize the publications, the distribution of countries, international collaborations, author productivity, source journals, cited references and keywords, and research hotspots in this field. Results: In total, 11,839 peer-reviewed papers were retrieved on DR from 2010 to 2019, and the annual research output increased with time. The United States ranks highest among countries with the most publications. The most active institution is the University of Melbourne. Wong, TY contributed the largest number of publications in this field. Investigative Ophthalmology & Visual Science was the most prolific journal in DR research. The top-cited references mainly investigated the use of anti-vascular endothelial growth factor (VEGF) medications in the management of DR, and the keywords formed 6 clusters: Discussion: With the improvement of living standard, DR has gradually become one of the important causes of blindness, and has become a hot spot of public health research in many countries. The application of deep learning and artificial intelligence in diabetes screening and anti-VEGF medications in the management of DR have been the research hotspots in recent 10 years. Conclusions: Based on data extracted from the WoSCC, this study provides a broad view of the current status and trends in DR research and may provide clinicians and researchers with insight into DR research and valuable information to identify potential collaborators and partner institutions and better predict their dynamic directions.
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