AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis.

Ferrera F; Rizzi M; Sprecacenere B; Balestra P; Sessarego M; Di-Carlo A; Filaci G; Gabrielli A; Ravazzolo R; Indiveri F

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AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis.

机译：与自身免疫性甲状腺炎相关的系统性硬化症中的AIRE基因多态性。

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Mutations in the autoimmune regulator (AIRE) gene are responsible for autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Systemic sclerosis (SSc) is a non-organ-specific autoimmune disease mainly characterized by cutaneous involvement, that is frequently associated with other autoimmune manifestations common to APECED. Nineteen SSc patients, 22 patients affected by SSc associated with autoimmune thyroiditis, and 100 healthy controls were analyzed. We identified 11 AIRE gene variants, one of which has never previously been described. Intronic polymorphism G11107A was significantly correlated to SSc/thyroiditis. Data show that variants of the AIRE gene might be correlated to different clinical manifestations in SSc patients.

机译：自身免疫调节剂（AIRE）基因的突变是导致自身免疫性多内分泌病-念珠菌病-表皮营养不良（APECED）的原因。系统性硬化症（SSc）是一种非器官特异性自身免疫疾病，主要特征是皮肤受累，通常与APECED常见的其他自身免疫表现有关。分析了19名SSc患者，22名患有自身免疫性甲状腺炎的SSc患者和100名健康对照。我们鉴定出11种AIRE基因变体，其中一种从未有过描述。内含子多态性G11107A与SSc /甲状腺炎显着相关。数据显示，AIRE基因的变异可能与SSc患者的不同临床表现有关。

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《Clinical immunology: The official journal of the Clinical Immunology Society》 |2007年第1期|共5页
作者
Ferrera F; Rizzi M; Sprecacenere B; Balestra P; Sessarego M; Di-Carlo A; Filaci G; Gabrielli A; Ravazzolo R; Indiveri F;
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正文语种 eng
中图分类医学免疫学;
关键词
Scleroderma; Systemic; Thyroiditis; Autoimmune; Transcription Factors; 硬皮病; 系统性; 甲状腺炎; 自身免疫性; 转录因子;

机译：Scleroderma;Systemic;Thyroiditis;Autoimmune;Transcription Factors;硬皮病;系统性;甲状腺炎;自身免疫性;转录因子;

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专利

1. AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis. [J] . Ferrera F, Rizzi M, Sprecacenere B, Clinical immunology: The official journal of the Clinical Immunology Society . 2007,第1期

机译：与自身免疫性甲状腺炎相关的系统性硬化症中的AIRE基因多态性。
2. Analysis of thyroglobulin gene polymorphisms in patients with autoimmune thyroiditis. [J] . Caputo M, Rivolta CM, Mories T, Endocrine. . 2010,第3期

机译：自身免疫性甲状腺炎患者甲状腺球蛋白基因多态性分析。
3. Role of the Autoimmune Regulator (AIRE) gene in alopecia areata: Strong association of a potentially functional AIRE polymorphism with alopecia universalis. [J] . Tazi Ahnini R, Cork MJ, Gawkrodger DJ, Tissue antigens. . 2002,第6期

机译：自身免疫调节剂（AIRE）基因在斑秃中的作用：潜在功能性AIRE多态性与普遍性斑秃有很强的联系。
4. Interaction Between HFE Polymorphisms and Cumulative Lead Exposure on the Risk of Amyotrophic Lateral Sclerosis [C] . Ki-Do Eum, Ryan Seals, Matthew Grespin, Annual conference of the International Society of Exposure Science . 2014

机译：HFE基因多态性与累积铅暴露对肌萎缩性侧索硬化症风险的相互作用
5. Single nucleotide polymorphisms (SNPs) associated with TGF-beta pathway and their significance in systemic sclerosis - A multilevel analysis. [D] . Lin, Yu-Li. 2010

机译：与TGF-β途径相关的单核苷酸多态性（SNP）及其在系统性硬化中的意义-多层次分析。
6. STAT4 gene polymorphism in two major autoimmune diseases (multiple sclerosis and juvenile onset systemic lupus erythematosus) and its relation to disease severity [O] . Rania S. Nageeb, Alaa A. Omran, Ghada S. Nageeb, -1

机译：两种主要自身免疫性疾病（多发性硬化症和少年性系统性红斑狼疮）中的STAT4基因多态性及其与疾病严重性的关系
7. Polymorphisms in the interleukin 4, interleukin 13, and corresponding receptor genes are not associated with systemic sclerosis and do not influence gene expression [O] . Broen, Jasper C A, Dieude, Phillipe, Vonk, Madelon C., 2012

机译：白细胞介素4，白细胞介素13和相应受体基因的多态性与系统性硬化无关，不影响基因表达

AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis.

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