ĐẶC ĐIỂM LÂM SÀNG VÀ KIỂU GEN CỦA BIẾN THỂ rs9290927 TRÊN GEN CLDN-1 Ở NGƯỜI BỆNH VIÊM DA CƠ ĐỊA

Abstract

Background: Skin barrier dysfunction plays a crucial role in atopic dermatitis (AD), a chronic inflammatory skin condition. Single nucleotide polymorphism (SNP) rs9290927 (A to T substitution) on the CLDN-1 gene, encoding claudin-1 protein, has been associated with AD susceptibility. Objective: To investigate the clinical and genetic characteristics of SNP rs9290927 in Vietnamese adults with AD. Methods: A descriptive case series study was conducted to assess the clinical features and rs9290927 genotype distribution in adult AD patients visiting the Dermatology Hospital, Ho Chi Minh City from January 2021 to March 2022. AD diagnosis was based on the Hanifin and Rajka criteria (1980). SNP rs9290927 genotyping was performed using Sanger sequencing of patient peripheral blood DNA. Results: A total of 82 adult AD patients participated in the study, with a median age of 36 years (range 32-40 years). The majority (86%) were of working age, and females accounted for 40.24%. Personal history of AD, asthma, and allergic rhinitis was reported in 84.15%, 8.54%, and 15.85%, respectively. Family history of AD, asthma, and allergic rhinitis was observed in 41.46%, 4.88%, and 15.85%, respectively. Disease severity based on the SCORAD index was categorized as mild, moderate, and severe in 13.41%, 50.00%, and 36.59%, respectively. The allele frequencies of A and T were 50.61% and 49.39%, respectively. Genotype frequencies were AA: 26.83%, AT: 47.56%, and TT: 25.61%. This variant was significantly associated with a family history of AD under dominant, recessive, and overdominant models with p-values of 0.002, 0.016, and 0.0004, respectively. No significant differences were observed in other characteristics. Conclusion: The allele frequencies of A and T for SNP rs9290927 were 50.61% and 49.39%, respectively. This variant was significantly associated with a family history of AD under dominant, recessive, and overdominant models.