rs204993

This is a upstream gene variant variant in the PBX2 gene.

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GWAS Catalog Trait Associations (5)

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

advanced glycosylation end product-specific receptor amount

Folkersen L et al. “Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.” Nature Metabolism 2(10):1135-1148 (2020)
Allele A
OR 0.14
p 1.0e-48
N 21,758
Large GWAS
European

asthma

Hirota T et al. “Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.” Nature Genetics 43(9):893-6 (2011)
Allele A
OR 1.17
p 2.0e-15
N 4,836
Large GWAS
East Asian

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 G
OR 0.18
p 1.0e-12
N 4,338
Large GWAS
European
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Research that mentions this SNP (2)

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Novel genetic risk factors for asthma in African American children: Precision Medicine and the SAGE II Study
AssociationN=1,227White MJ et al.(2016)· Immunogenetics

This GWAS in 1,227 African American children identified novel genetic risk factors for asthma, including genome-wide significant variants in PTCHD3 (rs660498, p=2.20×10⁻⁷, OR=1.62) and suggestive associations in SEMA3E and INSR. Notably, only 5% of 53 previously reported asthma variants from European and Asian populations replicated in this African American cohort, emphasizing ethnic-specific genetic architecture and the importance of diverse populations in genetic research.

Traits studied:Asthma in African American children
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 PBX2

This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6. [provided by RefSeq, Jul 2008]

View all PBX2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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