Association between polymorphisms in erythropoietin gene and upper limit haematocrit levels among regular blood donors

Abstract

Purpose of the studyErythropoietin (EPO) is a glycoprotein hormone that functions primarily on the stimulation and control of erythropoiesis in bone marrow. In this study, polymorphisms in EPO gene; C3434T, G3544T (rs551238) and rs1617640 were evaluated to determine their frequencies and genotype distribution patterns among blood donors with upper-limit haematocrit level. Subjects and methodsA total of 298 subjects, 181 blood donors with haematocrit level greater or equal to 48% and 117 donors with haematocrit between 42–47.5% as control were recruited. All subjects were genotyped for C3434T, rs551238 polymorphisms and for rs1617640 using restriction fragment length polymorphism method (PCR-RFLP) and sequencing techniques. ResultsA significant difference was found in rs1617640 and rs551238 genotype frequencies in blood donors with upper-haematocrit compared to the control group (P<0.05). In accordance with genotype frequencies, G allele in these two polymorphisms were found at higher frequency among upper-haematocrit group compared to the control (P<0.05). On the other hand, C3434T polymorphism was not significantly different between the two groups, neither for genotype frequencies nor for allele frequencies. ConclusionResults suggest a strong association between rs551238 and rs1617640 polymorphisms in the EPO gene and upper-limit haematocrit level among blood donors.