Functional promoter polymorphisms of the receptor for advanced glycation end products in children and adolescents with type 1 diabetes

Gomes, Letícia Carneiro; Welter, Marciane; Gobor, Luiza Cristina; Santos-Weiss, Izabella Castilhos Ribeiro dos; Nesi-França, Suzana; Alberton, Dayane; Picheth, Geraldo

doi:10.1016/j.mcp.2015.10.001

Cited by 1 publication

(1 citation statement)

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“…In our study, we selected two well-characterized single nucleotide polymorphisms (SNPs): rs1800624 (T-374A) and rs1800625 (T-429C), which are located in the promoter region of the RAGE gene ( http://www.ncbi.nlm.nih.gov/projects/SNP/ ). Both SNPs have already been associated with several types of medical conditions such as diabetes mellitus [ 50 , 51 ] and coronary artery disease [ 52 ] which are strongly associated with AMD [ 53 , 54 ]; studies have also confirmed a minor allele frequency of >5% [ 50 – 52 ]. Based on these criteria, the two SNPs were selected.…”

Section: Methodsmentioning

confidence: 99%

The Association Between Variants of Receptor for Advanced Glycation End Products (RAGE) Gene Polymorphisms and Age-Related Macular Degeneration

et al. 2018

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BackgroundAge-related macular degeneration (AMD) is the leading cause of blindness in people aged 65 years and older in developed countries. The pathogenesis of AMD has been linked to mechanisms involving inflammation, oxidative stress, and basal laminar deposit formation between retinal pigment epithelium (RPE) cells and the basal membrane, caused by advanced glycation end products (AGEs). AGEs are implicated in the pathogenesis of AMD through the AGE-and receptor for AGE (RAGE) interaction, which can be altered by polymorphisms of the RAGE gene. We examined RAGE rs1800624 and rs1800625 gene polymorphisms contributing to AMD development.Material/MethodsThe study enrolled 300 patients with early AMD, 300 patients with exudative AMD, and 800 healthy controls. The genotyping was carried out using the RT-PCR method.ResultsThe analysis of two single nucleotide polymorphisms (SNPs) in the RAGE gene showed that rs1800624 was associated with a 1.6-fold decreased risk for exudative AMD under the dominant model after adjustment for age (OR=0.616; 95% CI: 0.394–0.963; p=0.034) and each copy of allele T at rs1800624 was associated with a 1.4-fold decreased risk for exudative AMD development under the additive model after adjustment for age (OR=0.701; 95% CI: 0.510–0.962; p=0.028). Analysis revealed that the rs1800625 allele G at rs1800625 was associated with a 1.5-fold increased risk for exudative AMD after adjustment for age (OR=1.545; 95% CI: 1.003–2.379; p=0.048). These results suggested that the allele G at rs1800625 was a risk-allele for exudative AMD development. In haplotype analysis, A-G haplotype was significantly more frequently observed in exudative AMD patients compared to healthy controls (3.3% versus 1.4%, p=0.035).ConclusionsWe revealed a significant association between RAGE gene rs1800624 and rs1800625 polymorphisms and AMD risk. We considered T allele at rs1800624 to be protective against AMD development, while allele G at rs1800625 was considered to be a marker of poor prognosis in AMD development.

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