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越南患者中HLA - DRB1和DQB1基因对寻常型天疱疮和落叶型天疱疮的遗传易感性

HLA-DRB1 and DQB1 genetic susceptibility to pemphigus vulgaris and pemphigus foliaceus in Vietnamese patients.

作者信息

Vuong The Bich Thanh, Do Duc Minh, Ong Phuc Thinh, Thanh Le Thai Van

机构信息

Department of Dermatology.

Center for Molecular Biomedicine, Ho Chi Minh City University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City.

出版信息

Dermatol Reports. 2021 Aug 5;14(2):9286. doi: 10.4081/dr.2021.9286. eCollection 2022 Jun 16.

Abstract

Pemphigus is a group of rare, lifethreatening bullous autoimmune diseases that affect the skin and mucous membranes and are associated with high morbidity and morbidity. HLA class II genes, particularly HLA-DRB1 and HLA-DQB1, play roles in pemphigus. The aim of this paper is to investigate the susceptibility of HLA class II DRB1 and DQB1 alleles in Vietnamese patients with pemphigus vulgaris (PV) or pemphigus foliaceus (PF). The study enrolled 31 participants (22 with PV, 9 with PF) with diagnoses confirmed by clinical manifestations, histopathology, and direct immunofluorescence from November 2019 to June 2020. The HLA polymorphisms were determined by Sanger sequencing. The HLA-DRB1 and HLA-DQB1 profiles of the 101 healthy individuals in the control group have been published previously. The frequencies of HLA-DRB114, DRB113:07, DRB104:04, DRB103:02, DQB102:02, and DQB105:03 were significantly higher, whereas those of DRB109:01, DRB112:02, DQB103:03, DQB105:01, and DQB106:01 were significantly lower, in the PV group than in the controls. The frequencies of DRB114:54, DRB113:07, and HLA-DQB103:02 were significantly higher in the PF group than in the controls. Alleles HLA-DRB114:54, DRB114:04, DRB114:03, DRB114:01, DRB114:12, DRB113:07, DRB104:04, DRB103:02, DQB102:02, and DQB105:03 were associated with an increased risk of PV, whereas alleles DRB109:01, DRB112:02, DQB103:03, DQB105:01, and DQB106:01 might protect against PV. In PF, DRB114:54, DRB113:07, and HLA-DQB103:02 are promising susceptibility alleles.

摘要

天疱疮是一组罕见的、危及生命的大疱性自身免疫性疾病,会影响皮肤和黏膜,且发病率和死亡率都很高。人类白细胞抗原(HLA)II类基因,尤其是HLA - DRB1和HLA - DQB1,在天疱疮中发挥作用。本文旨在研究越南寻常型天疱疮(PV)或落叶型天疱疮(PF)患者中HLA II类DRB1和DQB1等位基因的易感性。该研究纳入了31名参与者(22例PV患者,9例PF患者),其诊断于2019年11月至2020年6月通过临床表现、组织病理学和直接免疫荧光检查得以确诊。HLA多态性通过桑格测序法确定。对照组中101名健康个体的HLA - DRB1和HLA - DQB1基因谱先前已发表。PV组中HLA - DRB114、DRB113:07、DRB104:04、DRB103:02、DQB102:02和DQB105:03的频率显著更高,而DRB109:01、DRB112:02、DQB103:03、DQB105:01和DQB106:01的频率显著低于对照组。PF组中DRB114:54、DRB113:07和HLA - DQB103:02的频率显著高于对照组。等位基因HLA - DRB114:54、DRB114:04、DRB114:03、DRB114:01、DRB114:12、DRB113:07、DRB104:04、DRB103:02、DQB102:02和DQB105:03与PV风险增加相关,而等位基因DRB109:01、DRB112:02、DQB103:03、DQB105:01和DQB106:01可能对PV有保护作用。在PF中,DRB114:54、DRB113:07和HLA - DQB103:02是很有前景的易感等位基因。

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