Chronic ocular sequelae in Stevens-Johnson syndrome: a genetic association study.

IF 1.8 3区医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Molecular Vision Pub Date : 2022-01-01

Sushil K Sangwan, Namrata Sharma, Tushar Agarwal, Neena Khanna, Ravindra M Pandey, Arundhati Sharma, Rasik B Vajpayee

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引用次数: 0

Abstract

Purpose: This study sought to investigate the association of molecular markers with chronic ocular sequelae in Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN).

Methods: One hundred SJS/TEN patients (200 eyes) with confirmed diagnosis were enrolled between July 2011 and July 2015 from a tertiary eye-care hospital, and their clinical histories were noted. Each eye was scored for severity of manifestation on a scale of 0-5. Peripheral blood samples were collected for DNA followed by screening for interleukin (IL-4, IL-13, IL-4R) polymorphisms, HLA-A locus allele typing, and sera to detect levels of the apoptotic markers granulysin and sFas L.

Results: Of the 100 enrolled patients (53 males/47 females; age range: 6-58 years), the incriminating drugs were non-steroidal anti-inflammatory (52%), antibiotics (10%), sulphonamides (8%), anti-epileptics (6%), and unknown (24%). Significant differences in the frequencies of IL-4R polymorphism, HLA-A*3301, HLA-A*02, and HLA-A*2402 alleles, and elevated levels of granulysin and sFas L were observed in patients compared to controls. The ocular complications of conjunctival keratinization (p=0.004) showed an association with IL-13 promoter region (IL-13a) genotypes.

Conclusions: The study highlights the possible association of interleukin-13 with severity-graded chronic sequelae and the role of HLA-A alleles- HLA-A*3301, HLA-A*02, and HLA-A*2402 in SJS/TEN causation and manifestation. Screening of these alleles may help caregivers to identify markers associated with severe and lifelong ocular complications, and help in appropriate treatment and management of the condition.

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史蒂文斯-约翰逊综合征的慢性眼部后遗症:一项遗传关联研究。

目的:探讨分子标志物与Stevens-Johnson综合征/中毒性表皮坏死松解(SJS/TEN)慢性眼部后遗症的关系。方法:选取2011年7月至2015年7月在某三级眼科医院确诊的SJS/TEN患者100例(200眼)，记录其临床病史。每只眼睛的症状严重程度评分为0-5分。采集外周血样本进行DNA检测，筛选白细胞介素(IL-4、IL-13、IL-4R)多态性、HLA-A位点等位基因分型，并检测血清中凋亡标志物颗粒素和sFas l水平。年龄范围:6-58岁)，相关药物为非甾体类抗炎药(52%)、抗生素(10%)、磺胺类药物(8%)、抗癫痫药(6%)和未知药物(24%)。与对照组相比，患者IL-4R多态性、HLA-A*3301、HLA-A*02和HLA-A*2402等位基因频率以及颗粒蛋白和sFas L水平升高均存在显著差异。结膜角化的眼部并发症与IL-13启动子区(IL-13a)基因型相关(p=0.004)。结论:本研究强调了白细胞介素-13与严重程度慢性后遗症的可能关联，以及HLA-A等位基因HLA-A*3301、HLA-A*02、HLA-A*2402在SJS/TEN病因和表现中的作用。筛查这些等位基因可以帮助护理人员识别与严重和终身眼部并发症相关的标记，并有助于适当的治疗和管理。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Vision 生物-生化与分子生物学

CiteScore

4.40

自引率

0.00%

发文量

审稿时长

1 months

期刊介绍： Molecular Vision is a peer-reviewed journal dedicated to the dissemination of research results in molecular biology, cell biology, and the genetics of the visual system (ocular and cortical). Molecular Vision publishes articles presenting original research that has not previously been published and comprehensive articles reviewing the current status of a particular field or topic. Submissions to Molecular Vision are subjected to rigorous peer review. Molecular Vision does NOT publish preprints. For authors, Molecular Vision provides a rapid means of communicating important results. Access to Molecular Vision is free and unrestricted, allowing the widest possible audience for your article. Digital publishing allows you to use color images freely (and without fees). Additionally, you may publish animations, sounds, or other supplementary information that clarifies or supports your article. Each of the authors of an article may also list an electronic mail address (which will be updated upon request) to give interested readers easy access to authors.