Polymorphism screening of four genes encoding advanced glycation end-product putative receptors. Association study with nephropathy in type 1 diabetic patients.
Advanced glycation end-products (AGEs) may play an important role in the pathogenesis and progression of cardiovascular and renal complications of diabetes. Four putative AGE receptors (RAGEs), AGE-R1, AGE-R2, and AGE-R3 have been described. In this study, we scanned the sequence of the genes encoding these AGE receptors in 48 patients with type 1 diabetes and investigated the identified polymorphisms (n = 19) in 199 type 1 diabetic patients with nephropathy and 193 type 1 diabetic patients without nephropathy. Overall, none of the polymorphisms was strongly associated with nephropathy. The minor allele of a polymorphism located in the promoter region of the RAGE gene (C-1152A) conferred a weak protective effect (P < 0.05) and was associated with a longer duration of nephropathy-free diabetes (P = 0.08).
Poirier
O
O
Institut National de la Santé et de la Recherche Médicale INSERM U525/SC7, Paris, France.
Nicaud
V
V
Vionnet
N
N
Raoux
S
S
Tarnow
L
L
Vlassara
H
H
Parving
H H
HH
Cambien
F
F
D020121:5' Untranslated Regions / Q000235:genetics; D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D002883:Chromosomes, Human, Pair 14; D002888:Chromosomes, Human, Pair 19; D002896:Chromosomes, Human, Pair 6; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics* / Q000503:physiopathology; D003928:Diabetic Nephropathies / Q000235:genetics*; D005820:Genetic Testing; D017127:Glycation End Products, Advanced / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D020033:Protein Isoforms / Q000235:genetics; D000067759:Receptor for Advanced Glycation End Products; D011971:Receptors, Immunologic / Q000235:genetics*
D020121:5' Untranslated Regions; D017127:Glycation End Products, Advanced; D020033:Protein Isoforms; D000067759:Receptor for Advanced Glycation End Products; D011971:Receptors, Immunologic