当前位置: X-MOL 学术Immunol. Invest. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Association of Rs231775 Genetic Variant of Cytotoxic T-lymphocyte Associated Protein 4 with Alopecia Areata Disease in Males: A Case–Control Study
Immunological Investigations ( IF 2.8 ) Pub Date : 2020-07-30 , DOI: 10.1080/08820139.2020.1796700
Nader Ali Ismail 1 , Eman Ali Toraih 2, 3 , Hatem Mohamed Ameen 4 , Amal Hussein Ahmed Gomaa 1 , Radwa El-Sayed Mahmoud Marie 1
Affiliation  

ABSTRACT

Background

Alopecia Areata (AA) is a common inflammatory immune-mediated non-scarring hair loss; however, the exact genetic susceptibility remains to be clarified. Cytotoxic T-lymphocyte Associated Protein 4 (CTLA4) has emerged as a central and critically important modulator of immune responses and is believed to play a crucial rule in AA pathogenesis.

Objectives

To investigate the association of CTLA4 variant (rs231775) within codon 17 with AA risk and outcomes.

Methods

Genetic analyses of the rs231775 SNP of CTLA4 gene were performed in 186 males (93 AA patients and 93 controls).

Results

The rs231775 CTLA4 variant was significantly higher in AA patients in comparison with control subjects especially among heterozygous and dominant model. This association varied significantly with disease severity.

Conclusions

Individuals with homozygosity of rs231775 CTLA4 variant represented AA disease risk and increased severity than their counterparts.

Abbreviations: AA: Alopecia areata; CTLA4: Cytotoxic T-lymphocyte Associated Protein 4; SNP: Single nucleotide polymorphism; LADA: Latent autoimmune diabetes in adults; SLE: Systemic lupus erythematosus; SCU: Suez Canal University; SALT: Severity of Alopecia Tool; DNA: Deoxyribonucleic acid; RT-PCR: Real-time polymerase chain reaction, HWE: Hardy–Weinberg equation; RA: rheumatoid arthritis.



中文翻译:

细胞毒性 T 淋巴细胞相关蛋白 4 的 Rs231775 遗传变异与男性斑秃疾病的关联:病例对照研究

摘要

背景

斑秃(AA)是一种常见的炎症性免疫介导的非瘢痕性脱发;然而,确切的遗传易感性仍有待澄清。细胞毒性 T 淋巴细胞相关蛋白 4 (CTLA4) 已成为免疫反应的中心和极其重要的调节剂,并被认为在 AA 发病机制中起关键作用。

目标

研究密码子 17 内CTLA4变体 (rs231775) 与 AA 风险和结果的关联。

方法

对186 名男性(93 名 AA 患者和 93 名对照)进行CTLA4基因rs231775 SNP 的遗传分析。

结果

与对照受试者相比,尤其是在杂合子和显性模型中,AA 患者的 rs231775 CTLA4变体显着更高。这种关联随疾病严重程度而显着变化。

结论

具有 rs231775 CTLA4 变体纯合子的个体代表 AA 疾病风险和比其对应物增加的严重性。

缩写: AA:斑秃;CTLA4:细胞毒性 T 淋巴细胞相关蛋白 4;SNP:单核苷酸多态性;LADA:成人潜伏性自身免疫性糖尿病;SLE:系统性红斑狼疮;SCU:苏伊士运河大学;SALT:脱发工具的严重程度;DNA:脱氧核糖核酸;RT-PCR:实时聚合酶链式反应,HWE:Hardy-Weinberg 方程;RA:类风湿性关节炎。

更新日期:2020-07-30
down
wechat
bug