Association Study of Nuclear Abnormalities and Polymorphisms of Oxidative Stress Genes with Endemic Goiter Incidence¹

Abstract—Endemic goiter is one of the most common endocrine diseases in Russian Federation. There is a strong need for new methods to detect and treat this disease. Analysis of nuclear abnormalities in buccal epithelial cells can be used to estimate overall exposure of patients to various endo- and exogenic factors associated with a disorder. We performed an association study of nuclear abnormalities in buccal epithelial cells and as well polymorphisms of genes encoding superoxide dismutase 1 (SOD1) and superoxide dismutase 2 (SOD2) in patients with endemic goiter. We observed an increased frequency of nuclear abnormalities related to early stages of apoptosis and necrosis in buccal epithelial cells of patients with endemic goiter when compared to cells from healthy individuals. Nuclear abnormalities in patients with endemic goiter are more common in heterozygous carriers of minor alleles of SOD1 G7958A and SOD2 58T>C polymorphisms when compared to homozygous individuals. Furthermore the presence of minor allele of SOD2 60C>T polymorphism in individuals with endemic goiter decreases the frequency of nuclear abnormalities. The results of this study could be used for the further development of effective and low-cost methods of endemic goiter diagnostics.