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儿童和青少年桥本甲状腺炎患者677C>T多态性研究:一项原创病例对照研究。

Study of the 677C>T Polymorphism in Children and Adolescents with Hashimoto's Thyroiditis: An Original Case-Control Study.

作者信息

Kolanis Savvas, Georgiou Elisavet, Kotanidou Eleni P, Tsinopoulou Vasiliki Rengina, Sapountzi Evdoxia, Hatzipantelis Emmanouel, Fidani Liana, Galli-Tsinopoulou Assimina

机构信息

2nd Department of Paediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, AHEPA University Hospital, 54636 Thessaloniki, Greece.

Laboratory of Biological Chemistry, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece.

出版信息

Diagnostics (Basel). 2025 May 23;15(11):1310. doi: 10.3390/diagnostics15111310.

Abstract

: Hashimoto's thyroiditis (HT) is the most common cause of hypothyroidism during childhood and adolescence. Children and adolescents with HT have an increased susceptibility to the development of thyroid nodules and thyroid cancer. Among the genetic causes of thyroid cancer, the 677C>T polymorphism of the methylenetetrahydrofolate reductase () gene is also reported. This study investigated for the first time the association between the 677C>T polymorphism (rs1801133) of the gene and HT in children and adolescents. : This case-control study included 130 children and adolescents with HT and 130 healthy controls. The 677C>T polymorphism of the gene was studied in all participants with Restriction Fragment Length Polymorphism (RFLP) methodology for genetic variance analysis. : Children and adolescents with HT presented approximately 2.5 times more frequently the T allele sequences (CT and TT variants) and the T alleles in total for the 677C>T polymorphism of the gene compared to the healthy population (OR: 2.56, CI: 1.53-4.21 and OR: 2.57, CI: 1.59-4.16, respectively). Children and adolescents with HT and T allele sequences (CT and TT variants) exhibited abnormal thyroglobulin antibodies (anti-TG) two times more frequently compared to those with the wild-type (CC) sequence in the same population (OR: 2.13, CI: 1.04-4.389). : Children and adolescents with HT showed an increased frequency of T allele sequences (CT and TT variants) and total T alleles of the 677C>T polymorphism of the gene compared to the healthy population.

摘要

桥本甲状腺炎(HT)是儿童和青少年甲状腺功能减退最常见的病因。患有HT的儿童和青少年发生甲状腺结节和甲状腺癌的易感性增加。在甲状腺癌的遗传病因中,也报道了亚甲基四氢叶酸还原酶()基因的677C>T多态性。本研究首次调查了该基因677C>T多态性(rs1801133)与儿童和青少年HT之间的关联。:本病例对照研究纳入了130例患有HT的儿童和青少年以及130例健康对照。采用限制性片段长度多态性(RFLP)方法对所有参与者的该基因677C>T多态性进行研究,以分析遗传变异。:与健康人群相比,患有HT的儿童和青少年该基因677C>T多态性的T等位基因序列(CT和TT变异体)以及总的T等位基因出现频率大约高2.5倍(OR分别为:2.56,CI:1.53 - 4.21和OR:2.57,CI:1.59 - 4.16)。在同一人群中,患有HT且具有T等位基因序列(CT和TT变异体)的儿童和青少年甲状腺球蛋白抗体(抗TG)异常出现频率是具有野生型(CC)序列者的两倍(OR:2.13,CI:1.04 - 4.389)。:与健康人群相比,患有HT的儿童和青少年该基因677C>T多态性的T等位基因序列(CT和TT变异体)以及总的T等位基因出现频率增加。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/06c8/12154079/b87dbb4d215e/diagnostics-15-01310-g001.jpg

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