title: General and Specific Genetic Polymorphism of Cytokines-Related Gene in AITD.
abstract: Autoimmune thyroid disease (AITD) shows the highest incidence among organ-specific autoimmune diseases and is the most common thyroid disease in humans, including Graves' disease (GD) and Hashimoto's thyroiditis (HT). The susceptibility to autoimmune diseases is affected by increased autoantibody levels, susceptibility gene polymorphisms, environmental factors, and psychological factors, but the pathogenesis remains unclear. Various cytokines and related genes encoding them play important roles in the development and progression of AITD. CD152, an expression product of the CTLA-4 gene, downregulates T cell activation. The A/A genotype polymorphism in the CT60 locus may reduce the production of thyroid autoantibodies. The C1858T polymorphism of the PTNP22 gene reduces the expression of its encoded LYP, which increases the risk of GD and HT. GD is an organ-specific autoimmune disease involving increased secretion of thyroid hormone, whereas HT may be associated with the destruction of thyroid gland tissue and hypothyroidism. These two diseases exhibit similar pathogenesis but opposite trends in the clinical manifestations. In this review, we focus on the structure and function of these cytokines and related genes in AITD, as well as the association of polymorphisms with susceptibility to GD and HT, and attempt to describe their differences in pathogenesis and clinical manifestations.
authors.affiliation: Department of General Surgery, Dongzhimen Hospital of Beijing University of Chinese Medicine, Beijing, China.
authors.forename: Chen
authors.identifier: 0000-0002-7558-5299
authors.initials: C
authors.lastname: Xiaoheng
authors.affiliation: State Key Laboratory of Toxicology and Medical Countermeasures, Beijing Institute of Pharmacology and Toxicology, Beijing, China.
authors.forename: Mei
authors.initials: M
authors.lastname: Yizhou
authors.affiliation: Department of Medical Service, The Third Clinical Medical College, Beijing University of Chinese Medicine, Beijing, China.
authors.forename: He
authors.initials: H
authors.lastname: Bei
authors.affiliation: Department of General Surgery, Dongzhimen Hospital of Beijing University of Chinese Medicine, Beijing, China.
authors.forename: Li
authors.initials: L
authors.lastname: Huilong
authors.affiliation: Department of General Surgery, Dongzhimen Hospital of Beijing University of Chinese Medicine, Beijing, China.
authors.forename: Wang
authors.initials: W
authors.lastname: Xin
authors.affiliation: Department of General Surgery, Dongzhimen Hospital of Beijing University of Chinese Medicine, Beijing, China.
authors.forename: Hu
authors.initials: H
authors.lastname: Rui
authors.affiliation: Department of General Surgery, Dongzhimen Hospital of Beijing University of Chinese Medicine, Beijing, China.
authors.forename: Li
authors.initials: L
authors.lastname: Lu
authors.affiliation: Department of General Surgery, Dongzhimen Hospital of Beijing University of Chinese Medicine, Beijing, China.
authors.forename: Ding
authors.identifier: 0000-0003-3955-9779
authors.initials: D
authors.lastname: Zhiguo
mesh_terms: D000818:Animals; D001327:Autoimmune Diseases / Q000235:genetics* / Q000378:metabolism*; D060908:CTLA-4 Antigen / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006111:Graves Disease / Q000235:genetics / Q000378:metabolism; D050031:Hashimoto Disease / Q000235:genetics / Q000378:metabolism; D006801:Humans; D011110:Polymorphism, Genetic / Q000235:genetics*; D013959:Thyroid Diseases / Q000235:genetics* / Q000378:metabolism*
chemical_list: D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human