Single-Nucleotide Nr3C1 Gene Polymorphisms Affect Glucocorticosteroid Treatment Efficacy In Patients With Pemphigus Vulgaris

Abstract

Background in recent years, the effectiveness of glucocorticosteroid (GC) treatment has become a central issue when managing patients with pemphigus vulgaris (PV). Polymorphisms in the gene encoding the nuclear receptor subfamily 3, group C, member 1 (NR3C1) protein (the GC receptor) may explain the observed variations in treatment efficacy. We aim to evaluate the effects of 10 SNPs (rs 17209237, rs11745958, rs7701443, rs33388, rs41423247, rs6189, rs6190, rs6195, rs6196, and rs6198) in Vietnamese PV patients. Methods we studied 10 sites in the NR3C1 gene (selected using published data) and sought correlations between single nucleotide polymorphisms (SNPs) in these regions and the clinical responses to GCs in 15 PV patients. Whole blood samples from all patients were collected in tubes containing ethylenediamine tetra-acetic acid (EDTA) and were genotyped using TaqMan SNP Genotyping assay. Results Of the 10 sites in the NR3C1 gene, SNPs were detected in 6 (rs17209237, rs11745958, rs7701443, rs41423247, rs33388, and rs6196); the genotypes rs17209237 AA, rs11745958 CC, and rs6196 AG may be associated with a need for a lower total GC dose; rs17209237 AA and rs6196 AG with shorter times to commencement of tapering; and rs17209237 AA and rs11745958 CC with shorter times to attainment of 50 and 25% Pemphigus Disease Activity Index scores. Conclusions NR3C1 gene variations may predict GC efficacy in PV patients. However, larger, randomized controlled trials are required.