ArticleThe World Allergy Organization journal2019
Identification of rare variants of allergic rhinitis based on whole genome sequencing and gene expression profiling: A preliminary investigation in four families.
Article in The World Allergy Organization journal, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 5 citations in OpenAlex.
- Gene Signatures and Associated Transcription Factors of Allergic Rhinitis:BioMed research international · 2023Article
- Allergic rhinitis is associated with atmospheric SO2: Follow-up study of children from elementary schools in Ulsan, Korea.PloS one · 2021Article
- Genetic Variants in Allergic Rhinitis Identified by Whole-Exome Sequencing in the Malaysian Population.Therapeutic advances in allergy and rhinologyArticle
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5 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundDespite the success of genome-wide association studies for allergic rhinitis (AR), no definitive causal variants have been identified, and a substantial portion of the heritability of the disease is yet to be discovered.
methodsFour families, each with at least 1 parent and one child suffering from dust mite (DM) AR, were recruited, and whole-genome sequencing was performed on samples from 9 eligible individuals from these families. Conjoint analysis was performed for existing gene expression profiling data in the literature and the whole genome sequencing data obtained for these individuals; for presence of family-specific variants segregating with AR and the pathways involved. Similar analyses were also performed with data obtained for 96 sporadic house dust mite (HDM) AR patients and 96 healthy controls.
resultsThree rare variants in three genes (FLT1_c.603A > T; VEGFB_c.322A > C; and ITGA2_c.502+1G > A), which are involved in Focal Adhesion pathway, were identified in affected, but not unaffected, subjects in two families. VEGFB_c.322A > C and/or ITGA2_c.502+1G > A were further detected in all DM AR patients but not in any healthy individuals in 1 family; which was further investigated for members. The 3 identified variants were not found in any of the sporadic DM AR patients or healthy controls.
conclusionDespite the relatively small sample size, this study has identified several potentially functional rare variants in AR candidate genes, and it provides a platform for future work in larger numbers of families and sporadic individuals for a better understanding of the genetic basis of AR.
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