# The Functional Erythropoetin rs1617640 Gene Polymorphism does not Affect Life Expectancy of Patients with Peripheral Arterial Disease

## TL;DR

A genetic variation in the erythropoietin gene does not influence the survival of patients with peripheral arterial disease.

## Contribution

This study shows that a known functional EPO polymorphism does not impact long-term survival in PAD patients.

## Key findings

- The EPO rs1617640 polymorphism was not associated with overall survival in PAD patients.
- Biomarkers of erythropoiesis did not mediate the effect of the polymorphism on survival.
- After 20 years of follow-up, 79.5% of patients had died, but genotype was not a significant predictor.

## Abstract

A common functional variant (c.-1306A>C, rs1617640) in
the gene encoding erythropoietin (EPO) has been linked to expression of
erythropoietin and markers of erythropoiesis. Aim of the current study was the
analysis of the role of this polymorphism for long term survival of patients with
peripheral arterial disease (PAD).

EPO genotypes as
well as biomarkers for erythropoiesis were analyzed in a cohort of 946 patients
with PAD. Survival follow-up was performed 20 years af-ter recruitment of
patients.

Twenty years after recruitment, 752 (79.5%) patients
were dead, 103 (10.9%) were still alive, and 91 (9.6%) were lost-to-follow up.
In a Cox regression analysis including smoking habit, sex, type-2 diabetes,
hypercholesterolemia and arterial hypertension, EPO genotypes were not
associated with overall survival (Hazard ratio 0.63; 95% confidence interval
0.88–1.08, p = 0.63).

The functional EPO
rs1617640 gene polymorphism, irrespective of its association with markers of
erythropoiesis, does not affect survival of PAD patients.