Study the association of NAT2 590G>A and UCP2 G(-866)A genetic variations with presbycusis risk

Abstract

Abstract Background Presbycusis is a sensory disorder that is highly prevalent in older adults. Various genetic and non-genetic (environmental) factors are involved in the development of presbycusis. One of the main factors involved in the pathology of presbycusis is oxidative stress. NAT2 and UCP2 genes have an important function by detoxification of xenobiotics and controlling the amount of reactive oxygen species (ROS), respectively. Alterations in these genes cause the accumulation of ROS and ultimately cell damage in the inner ear, which itself can lead to hearing disorders including presbycusis. Methods and Results This study aimed to investigate the association of NAT2 590G > A (rs 1799930) and UCP2 G(-866)A (rs659366) with the risk of presbycusis in an Iranian population. In this case-control study, 120 healthy people and 120 patients with presbycusis were enrolled. Genotypes of mentioned polymorphisms were determined by using a PCR-RFLP protocol. According to data analysis, the AA genotype of the UCP2 gene (OR = 3.200, 95% CI = 0.1.216–8.416, p = 0.018), A allele, (OR = 1.679, 95% CI = 1.14–2.473, p = 0.008) and the dominant GA + AA/GG model (OR = 1.8421, 95% CI = 1.1009–3.0822, p = 0.02) were associated to the increased risk of presbycusis. Bioinformatics analysis of this polymorphism revealed that it changes one of the CpG islands in the promoter region and may consequently alter UCP2 gene expression. Conclusions There was no significant association between NAT2 590G > A polymorphism and presbycusis risk. Our findings highlight UCP2 G(-866)A polymorphism as a biomarker in the diagnosis of presbycusis disease.