rs1800625

This is a downstream gene variant variant in the AGER gene.

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GWAS Catalog Trait Associations (3)

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

body mass index

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele G
OR 0.02
p 2.0e-15
N 342,566
Large GWAS
European

Drug-induced agranulocytosis, response to clozapine

Saito T et al. “Pharmacogenomic Study of Clozapine-Induced Agranulocytosis/Granulocytopenia in a Japanese Population.” Biological Psychiatry 80(8):636-42 (2016)
Allele G
OR 3.78
p 3.0e-9
N 2,955
Large GWAS
East Asian

trait in response to pazopanib, serum alanine aminotransferase amount

Xu CF et al. “HLA-B*57:01 Confers Susceptibility to Pazopanib-Associated Liver Injury in Patients with Cancer.” Clinical Cancer Research : an Official Journal of the American Association for Cancer Research 22(6):1371-7 (2016)
Allele G
OR 1.80
p 8.0e-9
N 1,188
Large GWAS
multi-ancestry
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Research that mentions this SNP (2)

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Polymorphisms in the CTSH gene may influence the progression of diabetic retinopathy: a candidate-gene study in the Danish Cohort of Pediatric Diabetes 1987 (DCPD1987)
AssociationN=130Steffen U. Thorsen et al.(2015)· Graefe's Archive for Clinical and Experimental Ophthalmology

This candidate gene study of 130 Danish children with type 1 diabetes examined associations between 20 diabetes-related SNPs and diabetic retinopathy progression over 16 years. The CTSH/rs3825932 variant was associated with reduced risk of progression to proliferative diabetic retinopathy (OR=0.20, p=2.4×10⁻³, p_adjust=0.048), while ERBB3/rs2292239 was associated with increased risk of two-step DR progression (OR=2.76, p=7.5×10⁻³, p_adjust=0.15). The CTSH association remained significant after multiple testing correction.

Traits studied:Diabetic retinopathyProliferative diabetic retinopathyType 1 diabetes mellitus
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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