Association of single-nucleotide NR3C1 gene polymorphisms with glucocorticosteroid responsiveness in patients with pemphigus vulgaris
https://doi.org/10.4081/dr.2021.9190
Accepted: 12 September 2021
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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 (NR3C1) protein (the GC receptor) may explain the variations in treatment efficacy. We evaluated the effects of 10 single nucleotide polymorphisms (SNPs) in the NR3C1 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 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 accumulative 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% PDAI scores. Thus, NR3C1 gene variations may predict GC responsiveness in PV patients.
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