Le Thai Van Thanh, Nguyen Duy Quan, Tran Ngoc Dang, Tu Trinh Hoang Kim
Department of Dermatology, University of Medicine and Pharmacy at Ho Chi Minh City; Department of Dermatology and Skin Aesthetics, University Medical Center HCMC.
Department of Dermatology.
Dermatol Reports. 2021 Oct 5;14(2):9190. doi: 10.4081/dr.2021.9190. eCollection 2022 Jun 16.
The glucocorticosteroid (GC) is crucial when managing patients with pemphigus vulgaris (PV). Polymorphisms in the gene encoding the nuclear receptor subfamily 3, group C, member 1 () protein (the GC receptor) may explain the variations in treatment efficacy. We evaluated the effects of 10 single nucleotide polymorphisms (SNPs) in the gene and the correlations with the GC responsiveness in patients with PV. The accumulative GC doses were recorded, and patients were assessed for the Pemphigus Disease Activity Index (PDAI) scores until the GC doses would be tapered. Whole blood samples at the initial visit were genotyped using TaqMan SNP Genotyping. In the gene, SNPs were detected in 6 (rs17209237, rs11745958, rs7701443, rs41423247, rs33388, and rs6196); the genotypes rs17209237 , rs11745958 , and rs6196 may be associated with a need for a lower accumulative GC dose; rs17209237 and rs6196 with shorter times to commencement of tapering; and rs17209237 and rs11745958 with shorter times to attainment of 50 and 25% PDAI scores. Thus, gene variations may predict GC responsiveness in PV patients.
糖皮质激素（GC）在寻常型天疱疮（PV）患者的治疗中至关重要。编码核受体亚家族3、C组成员1（）蛋白（GC受体）的基因多态性可能解释治疗效果的差异。我们评估了基因中10个单核苷酸多态性（SNP）的影响以及与PV患者GC反应性的相关性。记录累积GC剂量，并评估患者的天疱疮疾病活动指数（PDAI）评分，直到GC剂量逐渐减少。初次就诊时采集的全血样本采用TaqMan SNP基因分型进行基因分型。在基因中，在6个位点检测到SNP（rs17209237、rs11745958、rs7701443、rs41423247、rs33388和rs6196）；基因型rs17209237、rs11745958和rs6196可能与较低的累积GC剂量需求相关；rs17209237和rs6196与开始减量的时间较短相关；rs17209237和rs11745958与达到50%和25% PDAI评分的时间较短相关。因此，基因变异可能预测PV患者的GC反应性。
