Receptor of Advanced Glycation End Products Gene Polymorphism and Primary Open-Angle Glaucoma

2017 ◽  
Vol 58 (2) ◽  
pp. 81-84 ◽  
Author(s):  
Marilita M. Moschos ◽  
Irini Chatziralli ◽  
Anna Sioziou ◽  
Maria Gazouli
2018 ◽  
Vol 59 (1) ◽  
pp. 75
Author(s):  
Cedric Schweitzer ◽  
Audrey Cougnard-Gregoire ◽  
Vincent Rigalleau ◽  
Jean-Francois Dartigues ◽  
Florence Malet ◽  
...  

Author(s):  
Shazia Qayyum ◽  
Muhammad Afzal ◽  
Abdul Khaliq Naveed ◽  
Admin

Abstract Objective: To investigate the association of receptor for advanced glycation end products (RAGE) gene polymorphism 429T/C (rs1800625) with diabetic retinopathy (DR) and serum soluble RAGE (sRAGE) levels in Pakistani patients with Type 2 diabetes. Methods: A case-control study, conducted from January 2017 to December 2018, including 150 healthy controls (HC), 150 diabetics without retinopathy (DWR) and 150 DR patients. Ethical approval was taken from Ethics Review Committee of Islamic International Medical College - Riphah International University (RIU). Genotyping for 429T/C was done by Tetra-primer amplification refractory mutation system – polymerase chain reaction (T-ARMS-PCR). Serum sRAGE levels were measured by enzyme-linked immunosorbent assay (ELISA). Data was analysed to calculate descriptive and inferential statistics to compare genotype/allelic frequencies, biochemical markers and serum sRAGE among three study groups. Results: The frequency of TT, TC and CC genotypes of 429T/C polymorphism were: 91.3%, 6.7%, 2% in HC, 88.6%, 8.7%, 2.7% in DWR and 84.7%, 12.0%, 3.3 % in DR groups. No significant association of 429T/C genotypic and allelic frequencies with DWR and DR along with its subtypes, non- proliferative (NPDR) and proliferative (PDR) was observed. Upon further stratifying NPDR into mild, moderate and severe, an association of heterozygous TC with severe NPDR was observed compared to DWR in univariate and multinomial regression analysis. Serum sRAGE levels were significantly high in PDR patients compared to DWR and were positively correlated with fasting plasma glucose (FPG) in DR group.  


2021 ◽  
Vol 37 (3) ◽  
Author(s):  
Shazia Qayyum ◽  
Muhammad Afzal ◽  
Abdul Khaliq Naveed

Objectives: to determine the relationship of 374T/A (rs1800624) polymorphism in the gene encoding RAGE with Type-2 diabetes mellitus (T2DM), diabetic retinopathy (DR) and serum soluble RAGE (sRAGE) level in Pakistani patients. Methods: A case-control study, conducted from January 2017 to December 2018, involving 150 healthy controls (HC), 150 T2DM patients with no retinopathy (DNR) and 150 DR patients diagnosed by coloured fundus photography. Tetra-primer amplification refractory mutation system – polymerase chain reaction (T-ARMS-PCR) was used for genotyping. Serum sRAGE levels were measured by enzyme-linked immunosorbent assays (ELIZA). Results: The frequency of TT, TA and AA genotypes of rs1800624 polymorphism were: 92.7%, 6%, 1.3% in HC, 80%, 17.3%, 2.7% in DNR and 76.7%, 19.3%, 4.3% in DR groups. Heterozygous TA genotype and mutant A allele showed significant association with diabetes and DR vs HC. In dominant model, mutant allele showed significant association with DNR and DR vs HC. No significant association of rs1800624 was detected with DR and its sub-groups, non-proliferative DR (NPDR) and proliferative DR (PDR) vs DNR. Dividing NPDR into mild, moderate and severe, heterozygous TA genotype showed significant association with moderate and severe NPDR vs DNR. In DNR and DR groups, TA genotype was significantly associated with raised sRAGE. Conclusion: rs1800624 RAGE gene polymorphism might be a risk factor for T2DM and NPDR in Pakistani patients. Raised sRAGE levels have a positive correlation with PDR and are associated with heterozygosity of rs1800624 polymorphism in DNR and DR groups doi: https://doi.org/10.12669/pjms.37.3.3670 How to cite this:Qayyum S, Afzal M, Naveed AK. Association analysis of 374T/A (rs1800624) receptor for advanced glycation end-products (RAGE) gene polymorphism with diabetic retinopathy in Pakistani patients. Pak J Med Sci. 2021;37(3):---------.  doi: https://doi.org/10.12669/pjms.37.3.3670 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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