Genetic Variants in Allergic Rhinitis Identified by Whole-Exome Sequencing in the Malaysian Population

Résumé fourni par la source

Allergic rhinitis (AR) is among the most prevalent allergic diseases in the world and has a large impact on quality of life, school performance, and work productivity. The aim of this exploratory study was to identify the genetic variants that might be associated with AR in the Malaysian population through whole-exome sequencing. A total of 13 AR patients and 10 healthy controls were recruited from the ENT Clinic at the Pusat Kanser Tun Abdullah Ahmad Badawi and Universiti Sains Malaysia Specialist Hospital. Whole-exome sequencing of genomic DNA was performed. To prioritize the variants, bioinformatic analysis was performed according to the American College of Medical Genetics (ACMG) guidelines, and potentially pathogenic variants were looked for. The 5 HLA-DRB1 variants identified (rs1059582, rs17882084, rs17879995, rs11554463, and rs188617679) were classified as potentially pathogenic or likely pathogenic, using ACMG criteria. Of these, rs1059582 had a statistically significant association with AR ( P = .0457), which implies that it may be involved in susceptibility to AR. The present preliminary exploratory study revealed that a number of HLA-DRB1 variants, especially HLA-DRB1 rs1059582, are candidate genetic risk factors for AR in the Malaysian population. These results are preliminary and suggest that HLA-DRB1 may be a potential biomarker, but needs to be further validated in larger cohorts.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.