Association of single-nucleotide polymorphisms in non-coding regions of the <i>TLR4</i> gene with primary open angle glaucoma in a Mexican population

Navarro-Partida, José; Castillo, Beatriz Alvarado; Martínez-Rizo, Abril Bernardette; Rosales-Díaz, Ramses; Velázquez-Fernández, Jesús Bernardino; Santos, Arturo

doi:10.1080/13816810.2016.1227454

Cited by 23 publications

(20 citation statements)

References 27 publications

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“…However, the present study did not find any significant association of rs11536889 and rs7873784 with POAG risk after adjusting for covariates. Some studies concluded that TLR4 SNPs were positively associated with POAG risk, 18,19 although negative results also were reported 16,17 Several limitations should be noted with respect to the present study. 27,28 Previous population studies have begun to report the relationship between TLR4 gene polymorphism and POAG, although the conclusions of these studies are inconsistent.…”

Section: Discussioncontrasting

confidence: 54%

“…27,28 Previous population studies have begun to report the relationship between TLR4 gene polymorphism and POAG, although the conclusions of these studies are inconsistent. Some studies concluded that TLR4 SNPs were positively associated with POAG risk, 18,19 although negative results also were reported 16,17 . A study by Mousa et al 16 suggested no association between genotypes or allele of rs4986791 in the TLR4 gene and POAG.…”

Section: Discussionmentioning

confidence: 99%

“…However, some recent studies also reported inconsistent results. A study 18 in a Mexican population suggested that rs1927911 and rs2149356 within the TLR4 gene were associated increased POAG risk. Another study 13 concluded that TLR4 SNPs were correlated with susceptibility to POAG in a Japanese population.…”

Section: Discussionmentioning

confidence: 99%

“…The main function of the TLR4 gene is to encode a transmembrane pathogen recognition receptor 11 Recently, studies of the Japanese population have reported associations of the TLR4 gene variants with POAG risk, normal tension glaucoma and pseudo exfoliation glaucoma. 14,15 Increasing evidence [16][17][18][19] suggests that TLR4 genetic risk factors contributed to the POAG susceptibility. 14,15 Increasing evidence [16][17][18][19] suggests that TLR4 genetic risk factors contributed to the POAG susceptibility.…”

Section: Introductionmentioning

confidence: 99%

“…12,13 Epidemiological studies have shown that POAG was caused by not only heritable factors, but also some environmental risk factors, including age, race, elevated intraocular pressure and family history [3][4][5] ; some studies also suggested that smoking and alcohol drinking were two important risk factors for POAG. 14,15 Increasing evidence [16][17][18][19] suggests that TLR4 genetic risk factors contributed to the POAG susceptibility. However, to date, few studies have been performed aiming to test the impact of the TLR4 gene-environment interaction on POAG risk.…”

Section: Introductionmentioning

confidence: 99%

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Association of single‐nucleotide polymorphisms in TLR4 gene and gene–environment interaction with primary open angle glaucoma in a Chinese northern population

Liu

et al. 2019

The Journal of Gene Medicine

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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.

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