rs2070600

This is a variant in the AGER gene that changes a glycine to an serine.

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GWAS Catalog Trait Associations (15)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

FEV/FVC ratio

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.12
p 3.0e-239
N 394,642
Large GWAS
European
Shrine N et al. “Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.” Nature Genetics 55(3):410-422 (2023)
Allele T
OR 32.20
p 2.0e-227
N 588,452
Large GWAS
multi-ancestry
Shrine N et al. “New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.” Nature Genetics 51(3):481-493 (2019)
Allele T
OR 0.15
p 3.0e-189
N 321,047
Large GWAS
European
Wain LV et al. “Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.” Nature Genetics 49(3):416-425 (2017)
Allele T
OR 0.14
p 3.0e-25
N 48,943
Large GWAS
European

pulmonary surfactant-associated protein d measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.21
p 3.0e-171
N 47,745
Large GWAS
European

advanced glycosylation end product-specific receptor amount

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.65
p 1.0e-113
N 10,708
Large GWAS
European
Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR —
β 0.570
p 4.0e-33
N 3,301
Large GWAS
European

peak expiratory flow

Shrine N et al. “New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.” Nature Genetics 51(3):481-493 (2019)
Allele T
OR 0.07
p 2.0e-45
N 321,047
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.03
p 1.0e-22
N 394,642
Large GWAS
European

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele T
OR 0.52
p 1.0e-31
N 5,368
Large GWAS
European

chronic obstructive pulmonary disease

Sakornsakolpat P et al. “Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.” Nature Genetics 51(3):494-505 (2019)
Allele C
OR 1.21
p 1.0e-17
N 257,811
Large GWAS
European, East Asian, African American or Afro-Caribbean, Hispanic or Latin American, NR
Moll M et al. “A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease.” American Journal of Physiology. Lung Cellular and Molecular Physiology 321(1):L130-L143 (2021)
Allele C
OR 1.19
p 1.0e-16
N 251,091
Large GWAS
multi-ancestry
Hobbs BD et al. “Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis.” Nature Genetics 49(3):426-432 (2017)
Allele C
OR 1.24
p 6.0e-10
N 58,918
Large GWAS
multi-ancestry

sRAGE measurement

Grauen Larsen H et al. “The Gly82Ser polymorphism in the receptor for advanced glycation endproducts increases the risk for coronary events in the general population.” Scientific Reports 14(1):11567 (2024)
Allele T
OR 0.39
p 9.0e-16
N 4,338
Large GWAS
European

FEV/FVC ratio, pulmonary function measurement

Repapi E et al. “Genome-wide association study identifies five loci associated with lung function.” Nature Genetics 42(1):36-44 (2010)
Allele T
OR 0.09
p 3.0e-15
N 20,288
Large GWAS
European
Hancock DB et al. “Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.” Nature Genetics 42(1):45-52 (2010)
Allele T
OR 1.00
p 3.0e-14
N 20,890
Large GWAS
European

advanced glycation end-product measurement

Folkersen L et al. “Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease.” Plos Genetics 13(4):e1006706 (2017)
Allele T
OR 0.37
p 5.0e-12
N 3,394
Large GWAS
European
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ClinVar annotation

Uncertain Significance
2 submitters

COPD, severe early onset

View on ClinVar →
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Research that mentions this SNP (3)

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Soluble receptor for AGE in diabetic nephropathy and its progression in Finnish individuals with type 1 diabetes
AssociationN=3,647Jenny M. Wadén et al.(2019)· Diabetologia

This study in 3,647 Finnish type 1 diabetes patients found that soluble receptor for AGE (sRAGE) concentrations are associated with diabetic nephropathy and progression from macroalbuminuria to ESRD, but do not provide additional predictive value beyond conventional factors like eGFR. Mendelian randomization analysis using SNP rs2070600 (G82S) found no evidence that sRAGE causally contributes to ESRD progression, suggesting sRAGE is a biomarker rather than a causal factor in diabetic kidney disease.

Traits studied:Diabetic nephropathyEnd-stage renal diseaseMacroalbuminuriaMicroalbuminuria
PubMedDOIMetascience Observatory
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Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B
AssociationN=6,033Jiang DK et al.(2015)· Hepatology

A genome-wide association study of 83 plasma proteins relevant to cardiovascular disease in 3,394 European subjects identified 79 genome-wide significant loci (p<5e-8), with 55 replicating in independent cohorts (n=2,639). Using eQTL analysis and network methods, the authors proposed plausible causal mechanisms for 25 trans-acting loci including post-translational regulation of KITLG by MMP9 and several receptor-ligand pairs. Multiple loci showed evidence of causal association with coronary artery disease risk.

Traits studied:AtherosclerosisCoronary artery diseasePlaque rupturePlasma protein levels (83 cardiovascular disease-related proteins)Thrombosis
PubMedDOIMetascience Observatory
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Receptor for advanced glycation end-products (RAGE) provides a link between genetic susceptibility and environmental factors in type 1 diabetes
AssociationN=3,624Forbes JM et al.(2011)· Diabetologia

This study examined genetic susceptibility conferred by AGER gene polymorphisms in type 1 diabetes using 3,624 Finnish individuals. Three SNPs (rs2070600 OR=1.452, rs17493811 OR=1.518, rs9469089 OR=0.423) were associated with type 1 diabetes on a high-risk HLA background. Declining circulating soluble RAGE levels at autoantibody seroconversion predicted disease progression in children, and AGE-lowering therapy (alagebrium chloride) reduced autoimmune diabetes incidence by 80% in NOD mice while restoring RAGE levels.

Traits studied:Type 1 diabetes
PubMedDOIMetascience Observatory

About AGER

The advanced glycosylation end product (AGE) receptor encoded by this gene is a member of the immunoglobulin superfamily of cell surface receptors. It is a multiligand receptor, and besides AGE, interacts with other molecules implicated in homeostasis, development, and inflammation, and certain diseases, such as diabetes and Alzheimer's disease. Many alternatively spliced transcript variants encoding different isoforms, as well as non-protein-coding variants, have been described for this gene (PMID:18089847). [provided by RefSeq, May 2011]

View all AGER variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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