1. Pathological Implications of Receptor for Advanced Glycation End-Product (AGER) Gene Polymorphism
- Author
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Marine Serveaux-Dancer, Loïc Blanchon, Raiko Blondonnet, Jean-Michel Constantin, Matthieu Jabaudon, Corinne Belville, Isabelle Creveaux, Christelle Gross, Vincent Sapin, BLANCHON, LOIC, Génétique, Reproduction et Développement (GReD), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS), CHU Clermont-Ferrand, and Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Institut National de la Santé et de la Recherche Médicale (INSERM)
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0301 basic medicine ,Article Subject ,Clinical Biochemistry ,Single-nucleotide polymorphism ,Disease ,Bioinformatics ,Diabetic nephropathy ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,Diabetes mellitus ,[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN] ,Genetics ,medicine ,SNP ,Molecular Biology ,Autoimmune disease ,lcsh:R5-920 ,MESH: Humans ,business.industry ,MESH: Receptor for Advanced Glycation End Products ,MESH: Polymorphism, Single Nucleotide ,Biochemistry (medical) ,MESH: Genetic Predisposition to Disease ,General Medicine ,medicine.disease ,3. Good health ,030104 developmental biology ,chemistry ,030220 oncology & carcinogenesis ,Advanced glycation end-product ,[SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN] ,Gene polymorphism ,business ,lcsh:Medicine (General) - Abstract
The receptor for advanced glycation end-products (RAGE) is a cell surface transmembrane multiligand receptor, encoded by the AGER gene. RAGE presents many transcripts, is expressed mainly in the lung, and involves multiple pathways (such as NFκB, Akt, p38, and MAP kinases) that initiate and perpetuate an unfavorable proinflammatory state. Due to these numerous functional activities, RAGE is implicated in multiple diseases. AGER is a highly polymorphic gene, with polymorphisms or SNP (single-nucleotide polymorphism) that could be responsible or co-responsible for disease development. This review was designed to shed light on the pathological implications of AGER polymorphisms. Five polymorphisms are described: rs2070600, rs1800624, rs1800625, rs184003, and a 63 bp deletion. The rs2070600 SNP may be associated with the development of human autoimmune disease, diabetes complications, cancer, and lung diseases such as chronic obstructive pulmonary disease and acute respiratory distress syndrome. The rs1800624 SNP involves AGER gene regulation and may be related to reduced risk of heart disease, cancer, Crohn’s disease, and type 1 diabetes complications. The rs1800625 SNP may be associated with the development of diabetic retinopathy, cancer, and lupus but may be protective against cardiovascular risk. The rs184003 SNP seems related to coronary artery disease, breast cancer, and diabetes. The 63 bp deletion may be associated with reduced survival from heart diseases during diabetic nephropathy. Here, these potential associations between AGER polymorphisms and the development of diseases are discussed, as there have been conflicting findings on the pathological impact of AGER SNPs in the literature. These contradictory results might be explained by distinct AGER SNP frequencies depending on ethnicity.
- Published
- 2019
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