A family‐based genome‐wide association study of recurrent aphthous stomatitis

• Published in: Oral diseases Vol. 26; no. 8; pp. 1696 - 1705
• Main Authors: Bankvall, Maria, Östman, Sofia, Jontell, Mats, Torinsson Naluai, Åsa
• Format: Journal Article
• Language: English
• Published: Denmark Wiley Subscription Services, Inc 01.11.2020
• Subjects: 1-Phosphatidylinositol 3-kinase; AKT protein; Aphthous stomatitis; Chromosomes; Circadian rhythms; Entrainment; Environmental factors; genetic association study; Genetic diversity; genetic linkage; Genetic Predisposition to Disease; genetics; Genome-wide association studies; Genome-Wide Association Study; Genomes; Humans; mouth; mouth mucosa; Odontologi; Odontology; Phosphatidylinositol 3-Kinases; Polymorphism, Single Nucleotide; Signal transduction; Single-nucleotide polymorphism; Stomatitis; Stomatitis, Aphthous - genetics; genetic linkage; mouth mucosa; genetics; mouth; aphthous stomatitis; genetic association study
• ISSN: 1354-523X; 1601-0825; 1601-0825
• DOI: 10.1111/odi.13490

Objectives The aetiology of recurrent aphthous stomatitis (RAS) remains unknown. Individuals may share features of genetic susceptibility, and there may also be a hereditary component. The aim was to identify patterns of association and segregation for genetic variants and to identify the genes and signalling pathways that determine the risk of developing RAS, through a family‐based genome‐wide association study (GWAS). Subjects and methods DNA was extracted from buccal swabs of 91 individuals in 16 families and analysed in an Illumina core exome single nucleotide polymorphism (SNP) array. A family‐based association test (dFAM) was used to derive SNP association values across all chromosomes. Results None of the final 288,452 SNPs reached the genome‐wide significant threshold of 5 × 10–8. The most significant pathways were the Ras and PI3K‐Akt signalling pathways, pathways in cancer, circadian entrainment and the Rap 1 signalling pathway. Conclusions This confirms that RAS is not monogenic but results as a consequence of interactions between multiple host genes and possibly also environmental factors. The present approach provides novel insights into the mechanisms underlying RAS and raises the possibility of identifying individuals at risk of acquiring this condition.