rs4783244

This is a regulatory region variant variant in the CDH13 gene.

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GWAS Catalog Trait Associations (2)

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

adiponectin measurement

Wu Y et al. “A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.” Human Molecular Genetics 23(4):1108-19 (2014)
Allele T
OR 0.33
p 7.0e-165
N 7,827
Meta-analysis
East Asian
Chung CM et al. “A genome-wide association study reveals a quantitative trait locus of adiponectin on CDH13 that predicts cardiometabolic outcomes.” Diabetes 60(9):2417-23 (2011)
Allele T
OR 0.35
p 6.0e-17
N 382
Small GWAS
East Asian

body weight

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele T
OR 0.01
p 4.0e-11
N 928,679
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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CDH13 gene coding t-cadherin influences variations in plasma adiponectin levels in the Japanese population
AssociationN=684Hiroko Morisaki et al.(2012)· Human Mutation

This Chinese family-based sib-pair study of 342 discordant pairs (684 individuals) examined CDH13 genetic polymorphisms and their association with adiponectin levels and ischemic stroke risk. CDH13 rs7193788 was significantly associated with ischemic stroke (OR=1.55, 95% CI: 1.07-2.24, P=0.020), and both rs4783244 and rs7193788 were associated with reduced adiponectin levels. A significant interaction was found between rs7193788 and diabetes, with diabetic patients carrying risk genotypes showing substantially elevated stroke risk (OR=2.64, 95% CI: 1.58-4.40).

Traits studied:Adiponectin levelsHigh-molecular weight adiponectinIschemic stroke
PubMedDOIMetascience Observatory

About CDH13

This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The protein lacks the cytoplasmic domain characteristic of other cadherins, and so is not thought to be a cell-cell adhesion glycoprotein. This protein acts as a negative regulator of axon growth during neural differentiation. It also protects vascular endothelial cells from apoptosis due to oxidative stress, and is associated with resistance to atherosclerosis. The gene is hypermethylated in many types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2011]

View all CDH13 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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