rs1054564

This is a regulatory region variant variant in the GDF15 gene.

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GWAS Catalog Trait Associations (1)

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

growth differentiation factor 15 level

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele C
OR 0.47
p 1.0e-29
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
Ho JE et al. “Clinical and genetic correlates of growth differentiation factor 15 in the community.” Clinical Chemistry 58(11):1582-91 (2012)
Allele C
OR 0.30
p 8.0e-28
N 3,889
Large GWAS
European
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Research that mentions this SNP (1)

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An NTD-Associated Polymorphism in the 3′ UTR of MTHFD1L can Affect Disease Risk by Altering miRNA Binding
FunctionalMinguzzi S. et al.(2014)· Human Mutation

This functional study demonstrates that the GDF15 3' UTR variant rs1054564 (G>C) results in allele-specific translational repression of GDF15 by microRNA hsa-miR-1233-3p and hsa-miR-873-5p. Using bioinformatics prediction and in vitro luciferase reporter assays in HEK293T and A2058 melanoma cells, the authors show that the rs1054564-G allele creates stronger miRNA binding sites (lower free energy), leading to significantly decreased luciferase activity (P<0.05). Western blots confirmed that transfection of both miRNA mimics significantly decreased endogenous GDF15 expression (P<0.05), with hsa-miR-1233-3p showing significant allele-specific differences (P=0.034).

Traits studied:CancerCardiovascular diseaseChronic heart failureCoronary artery diseaseObesityPeripheral arterial diseaseType 2 diabetes
PubMedDOIMetascience Observatory

About GDF15

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The protein is expressed in a broad range of cell types, acts as a pleiotropic cytokine and is involved in the stress response program of cells after cellular injury. Increased protein levels are associated with disease states such as tissue hypoxia, inflammation, acute injury and oxidative stress. [provided by RefSeq, Aug 2016]

View all GDF15 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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