rs1617640

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

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GWAS Catalog Trait Associations (4)

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

hematocrit

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.06
p 7.0e-110
N 584,623
Major Consortium StudyLarge GWAS
multi-ancestry

anemia (phenotype)

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.04
p 7.0e-16
N 581,256
Major Consortium StudyLarge GWAS
multi-ancestry

red blood cell density

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele C
OR 0.11
p 4.0e-11
N 8,189
Large GWAS
South Asian
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ClinVar annotation

Risk Factor
1 submitter1 publication

Microvascular complications of diabetes, susceptibility to, 2

View on ClinVar →
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Research that mentions this SNP (1)

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Association Between Erythropoietin Gene Polymorphisms and Diabetic Retinopathy
AssociationN=518Abhary S. et al.(2010)· Archives of Ophthalmology

This case-control association study of 518 Australian subjects with diabetes found that three EPO (erythropoietin) gene SNPs (rs1617640, rs507392, rs551238) were significantly associated with diabetic retinopathy risk, particularly in type 2 diabetes. The GCC haplotype showed increased frequency in diabetic retinopathy cases with adjusted p-values of 0.006-0.008, and associations remained significant after adjustment for HbA1c, disease duration, and nephropathy.

Traits studied:Clinically significant macular edemaDiabetic retinopathyProliferative diabetic retinopathy
PubMedDOIMetascience Observatory

About EPO

This gene encodes a secreted, glycosylated cytokine composed of four alpha helical bundles. The encoded protein is mainly synthesized in the kidney, secreted into the blood plasma, and binds to the erythropoietin receptor to promote red blood cell production, or erythropoiesis, in the bone marrow. Expression of this gene is upregulated under hypoxic conditions, in turn leading to increased erythropoiesis and enhanced oxygen-carrying capacity of the blood. Expression of this gene has also been observed in brain and in the eye, and elevated expression levels have been observed in diabetic retinopathy and ocular hypertension. Recombinant forms of the encoded protein exhibit neuroprotective activity against a variety of potential brain injuries, as well as antiapoptotic functions in several tissue types, and have been used in the treatment of anemia and to enhance the efficacy of cancer therapies. [provided by RefSeq, Aug 2017]

View all EPO variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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