KHẢO SÁT CÁC BIẾN THỂ ĐA HÌNH ĐƠN NUCLEOTIDE RS2304365 CỦA GEN ST18 VÀ MỘT SỐ ĐẶC ĐIỂM LÂM SÀNG Ở BỆNH NHÂN PEMPHIGUS VULGARIS VIỆT NAM

Abstract

Objective: To describe the single nucleotide polymorphism variants rs2304365 of ST18 gene and the association of these polymorphism with some clinical characteristics of pemphigus vulgaris in Vietnamese people. Methods: Case series of pemphigus vulgaris patients who came for examination and treatment at Ho Chi Minh City Hospital of Dermato Venereology form March 2023 to June 2023. Patients’ history and clinical examination were collected. Blood samples (2ml) were taken for identified the single nucleotide polymorphism variants rs2304365 at the Biomedical Research Center in Pham Ngoc Thach University of Medicine. Results: Totally 15 patients were recruited. The percentage of genotype CC accounted for 86.7%, genotype CT was 6.7%. The percentage of minor allele T accounts for 10%. Clinical characteristics of pemphigus vulgaris patients: male 26.7%, female 73.3%. 46.7% of patients were in the age of 40-49 years old. 53.3% had an age of onset between 40-60 years old. 13.3% of patients had a family history of pemphigus vulgaris. 20% of patients had triggers, due to drugs and food. 80% patients had pain, 13.3% had itch in their lesions. 86.7% patients had mucosal involvement, 80% had positive Nikolsky. The proportions of patients with severe, moderate and mild disease were 26.7%, 53.3% and 20%, respectively. The duration of treatment response lasts from 10-30 days, 60% of patients respond to treatment within 10-20 days. Conclusion: The study describes some clinical characteristics, genotypes, allenes of the single nucleotide polymorphism rs2304365 of ST18 gene in Vietnamese pemphigus vulgaris patients thereby leading to larger study in the future.