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.

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氧化应激基因核异常及多态性与地方性甲状腺肿发病的关联研究

地方性甲状腺肿是俄罗斯联邦最常见的内分泌疾病之一。迫切需要检测和治疗这种疾病的新方法。口腔上皮细胞核异常的分析可用于估计患者对与疾病相关的各种内源性和外源性因素的总体暴露。我们对地方性甲状腺肿患者的颊上皮细胞核异常以及编码超氧化物歧化酶 1 (SOD1) 和超氧化物歧化酶 2 (SOD2) 的基因多态性进行了关联研究。我们观察到，与健康个体的细胞相比，地方性甲状腺肿患者的颊上皮细胞中与早期凋亡和坏死相关的核异常频率增加。与纯合子个体相比，地方性甲状腺肿患者的核异常在 SOD1 G7958A 和 SOD2 58T>C 多态性次要等位基因杂合子携带者中更常见。此外，地方性甲状腺肿患者中 SOD2 60C>T 多态性的次要等位基因的存在降低了核异常的频率。本研究的结果可用于进一步开发有效且低成本的地方性甲状腺肿诊断方法。