TẦN SUẤT CÁC BIẾN THỂ ĐA HÌNH ĐƠN NUCLEOTIDE RS17501010, RS9290927, RS893051, RS9290929 TRÊN GEN CLDN-1 LIÊN QUAN VỚI BỆNH VIÊM DA CƠ ĐỊA

Abstract

Introduction: Atopic dermatitis (AD) is a complex multifactorial disease in which the combination of skin barrier factors and genetic factors plays an important role. Single nucleotide polymorphisms (SNPs) in the CLDN-1 gene, which encodes the claudin-1 protein, have been described in relation to the pathogenesis of AD. Information on the genotype and allele frequency of this variant in relation to AD has not yet been investigated in the Vietnamese population. Objective: To determine the genotype and allele frequency of the single nucleotide polymorphisms (SNPs) rs17501010, rs9290927, rs893051, and rs9290929 in the CLDN-1 gene among patients with atopic dermatitis (AD). Materials and methods: This descriptive case series study identifies the genotype and allele frequency of the four SNPs (rs17501010, rs9290927, rs893051, and rs9290929) in 82 adult patients with AD using Sanger sequencing. Results: Among 82 participants met the criteria for the study, with males accounting for 59.76% and a median age of 36 years. For rs17501010, the allele frequencies were 95.73% G and 4.27% T, with genotype frequency of GG: 91.46%, and GT: 8.54%. For rs9290927, the allele frequencies were 50.61% A and 49.39% T, with genotype frequencies of AA: 26.83%, AT: 47.56%, and TT: 25.61%. For rs893051, the allele frequencies were 71.95% C and 28.05% G, with genotype frequencies of CC: 54.88%, CG: 34.15%, and GG: 10.98%. For rs9290929, the allele frequencies were 91.46% A and 8.54% G, with genotype frequencies of AA: 82.93%, and AG: 17.07%. Conclusion: The genotype and allele frequency of the four SNPs in the CLDN-1 gene in patients with AD treated at Ho Chi Minh City Dermatology Hospital were determined. This foundational data paves the way for future studies to determine the role of these variants in AD and to apply the results to more effectively manage AD in Vietnam