rs1035798
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.
health trait
▶Research that mentions this SNP (2)
▶Genome‐wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13AssociationN=12,240Susan D. Thompson et al.(2012)· Arthritis & Rheumatism
A GWAS of juvenile idiopathic arthritis in 814 cases and 3058 controls identified novel susceptibility loci at 3q13 and 10q21. The most significant associations were at rs4688011 (C3orf1/CD80, OR=1.37, P=1.88×10⁻⁶), rs6479891 (JMJD1C, OR=1.59, P=6.1×10⁻⁸), rs12411988 (JMJD1C, OR=1.57, P=1.16×10⁻⁷), and rs10995450 (NRBF2-EGR2, OR=1.31, P=6.74×10⁻⁵). Replication and meta-analysis in 1744 cases and 7010 controls confirmed associations for the four loci. eQTL analysis showed cis associations with C3orf1 and JMJD1C expression.
▶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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