rs2070600

minus

Geno	Mag	Summary
(A;A)	2	2x higher retinopathy risk in diabetics; 1.5x increased overall risk for gastric cancer
(A;G)	2	1.5x increased risk for gastric cancer
(G;G)	0	normal

Reference

GRCh38 38.1/141

Chromosome

6

Position

32183666

Gene

AGER

is a	snp
is	mentioned by
dbSNP	rs2070600
dbSNP (classic)	rs2070600
ClinGen	rs2070600
ebi	rs2070600
HLI	rs2070600
Exac	rs2070600
Gnomad	rs2070600
Varsome	rs2070600
LitVar	rs2070600
Map	rs2070600
PheGenI	rs2070600
Biobank	rs2070600
1000 genomes	rs2070600
hgdp	rs2070600
ensembl	rs2070600
geneview	rs2070600
scholar	rs2070600
google	rs2070600
pharmgkb	rs2070600
gwascentral	rs2070600
openSNP	rs2070600
23andMe	rs2070600
SNPshot	rs2070600
SNPdbe	rs2070600
MSV3d	rs2070600
GWAS Ctlg	rs2070600

GMAF

0.07438

Max Magnitude

2

?

(A;A) (A;G) (G;G)

28

rs2070600 (Gly82Ser) is a non-synonymous snp located in exon 3 of AGER (Advanced Glycation End product Receptor). The somewhat more common (G) allele encodes for Glycine (Gly), while the minor (A) allele encodes for Serine (Ser).

[PMID 18519797] compared to Gly/Gly genotypes, Gly/Ser and Ser/Ser genotypes associated with significantly higher (adj. OR = 1.47, 95% CI 1.05-2.06, p = 0.0038) chance of gastric cancer in a sample of 566 Chinese individuals (283 cases, 283 age matched controls).

[PMID 17224333] in a sample of 1096 Korean men and 580 Korean women...

serum soluble AGER (sRAGE) levels were significantly (p < .001) higher in individuals with Gly/Gly genotypes (1038 +/- 33 pg/mL), compared to Gly/Ser (809 +/- 19 pg/mL) or Ser/Ser genotypes (428 +/- 43 pg/mL).
subjects with Ser/Ser genotypes showed higher levels of serum AGE, HOMA-IR levels (insulin resistance model), plasma TNF-alpha, serum CRP, and 8-epi-prostaglandin F2 alpha.

[PMID 15803111] type-1 diabetics (487 t1ds and 351 controls) carrying the Ser allele associated with higher odds of advanced nephropathy (adj. OR = 3.17, 95% CI 1.32-7.85, p = 0.008)

[PMID 27684793 ] A 2016 meta-analysis of Gly82Ser based on ~1500 patients with diabetic retinopathy found a strong association with DR risk using a recessive genetic model (OR 2.4, CI: 1.46–3.97, p = 0.001).

[PMID 19902324] Association between the RAGE G82S polymorphism and Alzheimer's disease

GWAS snp
PMID	[PMID 20010834 ]
Trait	Lung function
Title	Genome-wide association study identifies five loci associated with lung function
Risk Allele	T
P-val	3E-15
Odds Ratio	0.09 [NR] % variance explained

GWAS snp
PMID	[PMID 20010835 ]
Trait	Pulmonary function
Title	Meta-analyses of genome-wide assocation studies identify multiple loci associated with pulmonary function
Risk Allele	T
P-val	3E-14
Odds Ratio	1.00 [NR] % increase

[PMID 20567859 ] Association of the RAGE G82S polymorphism with Alzheimer's disease

[PMID 21067572 ] Association Analysis of Nine Candidate Gene Polymorphisms in Indian Patients with Type 2 Diabetic Retinopathy

[PMID 21298413] Receptor for advanced glycation end-products (RAGE) provides a link between genetic susceptibility and environmental factors in type 1 diabetes

[PMID 21311028] The functional -374T/A polymorphism of the receptor for advanced glycation end products (RAGE) may modulate Crohn's disease

[PMID 21521347] Association of AGER gene G82S polymorphism with the severity of coronary artery disease in Chinese Han population

[PMID 22133449] Polymorphisms of the promoter and exon 3 of the receptor for advanced glycation end products (RAGE) in Euro- and Afro-Brazilians

[PMID 18796298] Polymorphisms in advanced glycosylation end product-specific receptor (AGER) gene, insulin resistance, and type 2 diabetes mellitus.

[PMID 19890027] Association of polymorphism in the receptor for advanced glycation end products (RAGE) gene with circulating RAGE levels.

[PMID 21304900 ] Individual and cumulative effects of GWAS susceptibility loci in lung cancer: associations after sub-phenotyping for COPD.

[PMID 21804548 ] Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.

[PMID 22146151 ] Is the Gly82Ser polymorphism in the RAGE gene relevant to schizophrenia and the personality trait psychoticism?

GWAS snp
PMID	[PMID 23284291 ]
Trait	Pulmonary function (interaction)
Title	Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
Risk Allele
P-val	1E-21
Odds Ratio	NR NR

[PMID 23267696 ] Association of genetic polymorphisms with chronic obstructive pulmonary disease in the Chinese Han population: a case-control study

[PMID 24286382] Association of five genetic variants with chronic obstructive pulmonary disease susceptibility and spirometric phenotypes in a Chinese Han population

[PMID 24605038 ] RAGE gene three polymorphisms with Crohn's disease susceptibility in Chinese Han population

[PMID 26083729 ] Genetics of Plasma Soluble Receptor for Advanced Glycation End-Products and Cardiovascular Outcomes in a Community-based Population: Results from the Atherosclerosis Risk in Communities Study

[PMID 26313784 ] Effects of RAGE Gene Polymorphisms on the Risk and Progression of Hepatocellular Carcinoma

[PMID 28248552 ] Plasma Soluble Receptor for Advanced Glycation Endproducts in Idiopathic Pulmonary Fibrosis.

[PMID 29422518 ] Receptor for advanced glycation end-products and ARDS prediction: a multicentre observational study.

[PMID 30719146 ] Association of RAGE gene four single nucleotide polymorphisms with the risk, invasion, metastasis and overall survival of gastric cancer in Chinese.

[PMID 30863465 ] Pathological Implications of Receptor for Advanced Glycation End-Product (AGER) Gene Polymorphism.

[PMID 31127314 ] Soluble receptor for AGE in diabetic nephropathy and its progression in Finnish individuals with type 1 diabetes.