Genetic Variant rs1801275 in Atopic Dermatitis: Prevalence and Clinical Implications in Vietnamese Population

Abstract

Tuan Huu Ngoc Nguyen,1,2 Duong Hoang Huy Le,1,2 Thi Thi Mai Huynh,3 Thoi Thi Le,4 Thinh Hung Nguyen,1,2 Hung Cao Dinh,5,6 Tro Van Chau,7 Ha Minh Nguyen1,2,8 1Biomedical Research Center, Pham Ngoc Thach University of Medicine, Ho Chi Minh, Vietnam; 2Medical Biochemistry & Molecular Biology Department, Fundamental Sciences and Basic Medical Sciences, Pham Ngoc Thach University of Medicine, Ho Chi Minh, Vietnam; 3Outpatient Department, Hospital of Dermato-Venereology, Ho Chi Minh City, Vietnam; 4Department of Medical Laboratory Science, Faculty of Nursing and Medical Technology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam; 5Department of Internal Medicine, Faculty of Medicine, Pham Ngoc Thach University of Medicine, Ho Chi Minh City, Vietnam; 6Department of Internal Medicine, Faculty of Medicine, Nguyen Tat Thanh University, Ho Chi Minh City, Vietnam; 7Department of Dermatology of Pham Ngoc Thach University of Medicine, Faculty of Medicine, Ho Chi Minh, Vietnam; 8Laboratory Department, Nguyen Tri Phuong Hospital, Ho Chi Minh, VietnamCorrespondence: Ha Minh Nguyen, Email [email protected]: Atopic dermatitis (AD), a chronic inflammatory skin condition, affects up to 20% of children and 10% of adults globally, driven by a type 2 immune response via IL-4 and IL-13 through IL-4Rα. The rs1801275 variant in IL-4Rα gene, a glutamine-to-arginine substitution (Q576R), increases AD severity and atopic comorbidities. This study examines rs1801275’s prevalence and clinical impact in Vietnamese population.Methods: A cross-sectional study (January–May 2021) with 113 AD patients (Hanifin and Rajka criteria) and 213 healthy controls has been conducted. Demographics, clinical features, and SCORAD severity were assessed via questionnaires and dermatologist evaluations. rs1801275 variant was genotyped using allele-specific real-time PCR. Frequencies were compared, and associations with AD severity were analyzed using Fisher’s Exact Test, Kruskal–Wallis test, and logistic regression, adjusting for age and sex.Results: Allele frequencies (A: 82.74% vs 79.58%; G: 17.26% vs 20.42%) and genotypes of AD patient and control groups, respectively, showed no significant difference (p = 0.315), indicating no link to AD susceptibility. However, the G allele was associated with higher SCORAD severity in the dominant model (AG+GG vs AA: median 40 vs 30.5, p = 0.010; OR 4.67, p = 0.005) and additive model (p = 0.023), with a dose effect (AA: 30.5, AG: 39, GG: 49.65). Age group independently predicted severity (OR 2.31– 2.43, p < 0.05).Conclusion: The rs1801275 variant correlates with increased severity in G allele carriers, per SCORAD, in dominant model. These findings support personalized AD management in Vietnam, though larger studies are needed for GG genotypes.Keywords: atopic dermatitis, IL-4Rα, rs1801275, Q576R, genetic variant, SCORAD severity, Vietnamese population

Keywords

• Atopic dermatitis
• IL-4Rα
• rs1801275
• Q576R
• Genetic variant
• SCORAD severity