Purpose: The aim of this study was to assess the frequency of a key autophagy gene ATG5 rs2245214 C/G polymorphism in a Romanian volunteer cohort, as there are no data regarding an Eastern European population.
Material/methods: DNA was extracted from peripheral blood of 105 Romanian unrelated volunteers. The ATG5 rs2245214 C/G polymorphism was genotyped by Real-Time PCR using allelic discrimination TaqMan assay. RealTime PCR was performed on a ViiA™ 7 Real Time PCR System. Hardy-Weinberg equilibrium of allele frequencies at individual loci was assessed using the Chi-squared test.
Results: The genotype frequencies in controls were distributed in accordance with Hardy-Weinberg equilibrium (χ² = 1.07; p = 0.3). We found CC genotype in 53 subjects (50.48 %), CG genotype in 40 (38.10 %) and GG genotype in 12 subjects (11.42 %).The G risk allele was found in 52 individuals, and the frequency of the minor G allele was 0.3.
Conclusion: This is the first report on a Romanian population regarding the frequency of the ATG5 gene rs2245214 polymorphism. Our results are slightly different to the distribution pattern from other Caucasian populations and larger studies including various ethnic groups are required.
Keywords: ATG5 polymorphism; autophagy; gene; genotype.