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From SNPedia

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
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (classic)rs2070600
1000 genomesrs2070600
23andMe allrs2070600
GWAS Ctlgrs2070600
Max Magnitude2
? (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 27684793OA-icon.png] 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 20010834OA-icon.png]
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 20010835OA-icon.png]
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 20567859OA-icon.png] Association of the RAGE G82S polymorphism with Alzheimer's disease

[PMID 21067572OA-icon.png] 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 21304900OA-icon.png] Individual and cumulative effects of GWAS susceptibility loci in lung cancer: associations after sub-phenotyping for COPD.

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

[PMID 22146151OA-icon.png] Is the Gly82Ser polymorphism in the RAGE gene relevant to schizophrenia and the personality trait psychoticism?

GWAS snp
PMID [PMID 23284291OA-icon.png]
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 23267696OA-icon.png] 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 24605038OA-icon.png] RAGE gene three polymorphisms with Crohn's disease susceptibility in Chinese Han population

[PMID 26083729OA-icon.png] 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 26313784OA-icon.png] Effects of RAGE Gene Polymorphisms on the Risk and Progression of Hepatocellular Carcinoma

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

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

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

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

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