白癜风的遗传学
Genetics of Vitiligo.
作者信息
Spritz Richard A, Andersen Genevieve H L
机构信息
Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, 12800 East 19th Avenue, Room 3100, MS8300, Aurora, CO 80045, USA.
Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, 12800 East 19th Avenue, Room 3100, MS8300, Aurora, CO 80045, USA.
出版信息
Dermatol Clin. 2017 Apr;35(2):245-255. doi: 10.1016/j.det.2016.11.013.
Abstract
Vitiligo reflects simultaneous contributions of multiple genetic risk factors and environmental triggers. Genomewide association studies have discovered approximately 50 genetic loci contributing to vitiligo risk. At many vitiligo susceptibility loci, the relevant genes and DNA sequence variants are identified. Many encode proteins involved in immune regulation, several play roles in cellular apoptosis, and others regulate functions of melanocytes. Although many of the specific biologic mechanisms need elucidation, it is clear that vitiligo is an autoimmune disease involving a complex relationship between immune system programming and function, aspects of the melanocyte autoimmune target, and dysregulation of the immune response.
摘要
白癜风反映了多种遗传风险因素和环境诱因的共同作用。全基因组关联研究已经发现了约50个与白癜风风险相关的基因位点。在许多白癜风易感位点，相关基因和DNA序列变异已被确定。许多基因编码参与免疫调节的蛋白质，一些在细胞凋亡中起作用，其他的则调节黑素细胞的功能。尽管许多具体的生物学机制尚待阐明，但很明显，白癜风是一种自身免疫性疾病，涉及免疫系统编程与功能、黑素细胞自身免疫靶点的各个方面以及免疫反应失调之间的复杂关系。
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本文引用的文献
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MHC class II super-enhancer increases surface expression of HLA-DR and HLA-DQ and affects cytokine production in autoimmune vitiligo.MHC II类超级增强子增加HLA-DR和HLA-DQ的表面表达并影响自身免疫性白癜风中的细胞因子产生。
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Autoimmune vitiligo is associated with gain-of-function by a transcriptional regulator that elevates expression of HLA-A*02:01 in vivo.自身免疫性白癜风与一种转录调节因子的功能获得有关，该因子在体内可提高HLA-A*02:01的表达。
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A novel FoxD3 Variant Is Associated With Vitiligo and Elevated Thyroid Auto-Antibodies.一种新型 FoxD3 变异与白癜风和甲状腺自身抗体升高有关。
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Markedly reduced incidence of melanoma and nonmelanoma skin cancer in a nonconcurrent cohort of 10,040 patients with vitiligo.10040 例白癜风非同期队列患者中黑色素瘤和非黑色素瘤皮肤癌发病率明显降低。
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Three new single nucleotide polymorphisms identified by a genome-wide association study in Korean patients with vitiligo.通过对韩国白癜风患者的全基因组关联研究鉴定出三个新的单核苷酸多态性。
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NLRP1 haplotypes associated with vitiligo and autoimmunity increase interleukin-1β processing via the NLRP1 inflammasome.与白癜风和自身免疫相关的 NLRP1 单倍型通过 NLRP1 炎性小体增加白细胞介素-1β的加工。
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Risk of generalized vitiligo is associated with the common 55R-94A-247H variant haplotype of GZMB (encoding granzyme B).GZMB（编码颗粒酶 B）的常见 55R-94A-247H 变异单体型与全身性白癜风的风险相关。
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