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rs2070600

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 2 1.5x increased risk for gastric cancer
(A;G) 2 1.5x increased risk for gastric cancer
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome6
Position32183666
GeneAGER
is asnp
is mentioned by
dbSNPrs2070600
ebirs2070600
HLIrs2070600
Exacrs2070600
Varsomers2070600
Maprs2070600
PheGenIrs2070600
hapmaprs2070600
1000 genomesrs2070600
hgdprs2070600
ensemblrs2070600
gopubmedrs2070600
geneviewrs2070600
scholarrs2070600
googlers2070600
pharmgkbrs2070600
gwascentralrs2070600
openSNPrs2070600
23andMers2070600
23andMe allrs2070600
SNP Nexus

SNPshotrs2070600
SNPdbers2070600
MSV3drs2070600
GWAS Ctlgrs2070600
GMAF0.07438
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 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?


GET Evidence
AGER-G82S
aa_change Gly82Ser
aa_change_short G82S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0330226
summary



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