Pathological Implications of Receptor for Advanced Glycation End-Product (AGER) Gene Polymorphism

Table 1

Polymorphisms of the AGER gene (transcript NM_001136.4) studied in this review and their potential consequences.

rs	Nucleotide change	Amino acid change	Exon/11	1000 genome allele frequency	1000 genome CEU allele frequency	1000 genome EAS allele frequency	Other names	Consequences	Reference
rs2070600	c.244G>A	p.Gly82Ser	3	0.072	0.076	0.219	G82S	Microangiopathy in DT2	[28]
								Diabetic complications	[38]
								Rheumatoid arthritis	[32, 50–52]
								Cancer	[54, 56, 57, 59]
								Lung pathologies such as COPD and ARDS	[69]
								Alzheimer’s disease	[75–78]
								Psychoticism factors	[33]
rs1800624	c.-388T>A		Promoter	0.15	0.192	0.137	-374T/A	Reduced risk of heart disease	[29, 89, 93, 97–99]
								Reduced risk of cancer	[29, 50, 53]
								DT1 complications	[38, 126]
								Reduced risk of Crohn’s disease	[101, 102]
rs1800625	c.-443T>C		Promoter	0.137	0.182	0.096	-429T/C	Diabetic retinopathy	[32, 108–110]
								Cancer	[32]
								Lupus	[105]
								Protective of cardiovascular risk	[18, 114]
NA	c.-421_-359del		Promoter				63 bp deletion	Reduced survival of heart disease in diabetic nephropathy	[118]
rs184003	c.822+49G>T		Intron 7-8	0.156	0.051	0.146	1704G/T	Coronary artery disease	[115]
								Breast cancer	[87]
								Diabetes	[49]
rs1051993	c.-1435G>T		5UTR	0.066	0.005	0.081		///
rs1800684	c.6A>T	p.Ala2=	1	0.036	0.152	0.008		Ischemic stroke in women	[72]
rs3131300	c.52+14T>C		Intron 1-2	0.136	0.182	0.094		Diabetic retinopathy	[81]
rs17846804	c.83C>T	p.Ala28Val	2	0.001	0	0.005		///
rs3530981	c.143G>A	p.Arg48Gln	2					///
rs35802968	c.153G>A	p.Trp51Ter	2	0.001	0	0		///
rs35795092	c.267C>G	p.Val89=	3	0.068	0.051	0.004		///
rs17846806	c.341G>A	p.Arg114Gln	3					///
rs2269422	c.355+38A>G		Intron 3-4	0.042	0	0.131		///
rs1035798	c.356-57C>T		Intron 3-4	0.15	0.187	0.139		Lower risk of rheumatoid arthritis	[122]
								Small-vessel disease	[117]
								DT1	[38]
								Lower risk of pancreatic cancer	[86]
rs17846798	c.692-23C>T		Intron 6-7	0.054	0.005	0.033		///
rs3134940	c.964+208A>G		Intron 8-9	0.133	0.182	0.093	+2184A/G	Diabetic nephropathy	[41, 109]
								High aggressiveness of tumor in clear cell renal cancer	[32]
								Lupus	[105]
rs2853807	c.965-163C>T		Intron 8-9	0.037	0	0.07	+2245G/A	///
rs2071288	c.992-6G>A		Intron 9-10	0.054	0.005	0.033		Emphysema in COPD	[67]
rs17493811	g.32177622C>G		3UTR	0.011	0.025	0.012		DT1	[22, 38]
rs9469089	g.32178880G>A		3UTR	0.133	0.192	0.114		Decreased risk of DT1	[22, 38]

DT1: type 1 diabetes; DT2: type 2 diabetes; COPD: chronic obstructive pulmonary disease; ARDS: acute respiratory distress syndrome.