[The frequency of CTLA-4 gene polymorphism at position 49 exon 1 in children with Hashimoto's thyroiditis].

Anna Kucharska, Alicja Wiśniewska, Barbara Rymkiewicz-Kluczyńska
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Abstract

Introduction: The cytotoxic T lymphocyte antigen-4 (CTLA-4) is a molecule present on T cells that plays a critical role in the down regulation of antigen-activated immune responses. Its gene polymorphism is a strong candidate gene for conferring susceptibility to thyroid autoimmunity. THE AIM of the study was to analyse the frequency of CTLA-4 exon 1 polymorphism (A49G) in children with Hashimoto's thyroiditis.

Material and methods: Blood samples from 68 children were analysed: 30 with Hashimoto's thyroiditis and 38 healthy, age-matched controls, mean age: 13.6 years. CTLA-4 exon 1 polymorphism (A49G) was defined by the PCR method and single-strand conformational polymorphism analysis and confirmed by using BbvI enzyme. Statistical analysis was performed using the t- test and Chi-square test.

Results: Polymorphism analysis showed that statistically significant more patients with Hashimoto's thyroiditis were homozygous for G (Ala), and G allele frequency was significant higher than in the control group.

Conclusion: The results confirmed the association between CTLA-4 exon 1 polymorphism (A49G) and Hashimoto's thyroiditis in polish children.

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[桥本甲状腺炎患儿外显子1 49位CTLA-4基因多态性的频率]。
细胞毒性T淋巴细胞抗原-4 (CTLA-4)是存在于T细胞上的一种分子,在下调抗原激活免疫反应中起关键作用。其基因多态性是一个强有力的候选基因赋予甲状腺自身免疫易感性。该研究的目的是分析CTLA-4外显子1多态性(A49G)在桥本甲状腺炎儿童中的频率。材料和方法:分析了68名儿童的血液样本:30名患有桥本甲状腺炎,38名健康,年龄匹配的对照组,平均年龄:13.6岁。采用PCR法和单链构象多态性分析确定CTLA-4外显子1多态性(A49G),并用BbvI酶进行验证。采用t检验和卡方检验进行统计学分析。结果:多态分析显示,桥本甲状腺炎患者G (Ala)纯合子发生率显著高于对照组,且G等位基因频率显著高于对照组。结论:CTLA-4外显子1多态性(A49G)与波兰儿童桥本甲状腺炎存在相关性。
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