rs1800624
This is a downstream gene variant variant in the AGER gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
FEV/FVC ratio
▶Research that mentions this SNP (1)
▶Receptor for advanced glycation end-products (RAGE) provides a link between genetic susceptibility and environmental factors in type 1 diabetesAssociationN=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.
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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