ArticleScientific reports2017
Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 35 citations in OpenAlex.
- Behçet's spectrum disorders: genetic and immunological insights into an emerging disease concept.World journal of pediatrics : WJP · 2026Review
- Analysis of low-density lipoprotein receptor gene mutations in a family with familial hypercholesterolemia.PloS one · 2024Article
- Behçet's syndrome: recent advances to aid diagnosis.Clinical and experimental medicine · 2023Review
- Identification of anJournal of geriatric cardiology : JGC · 2023Article
- Spotlight on pyroptosis: role in pathogenesis and therapeutic potential of ocular diseases.Journal of neuroinflammation · 2022Review
- The Immunogenetics of Behcet's Disease.Advances in experimental medicine and biology · 2022Article
- Clinical Manifestations and Management of Pediatric Behçet's Disease.Clinical reviews in allergy & immunology · 2021Review
- Review
- Application of NGS Technology in Understanding the Pathology of Autoimmune Diseases.Journal of clinical medicine · 2021Review
- A First Step for the Molecular Characterization of Neurological Involvement of Behçet Syndrome: an Italian Pivotal Study.Journal of molecular neuroscience : MN · 2021Article
- Behçet disease, new insights in disease associations and manifestations: a next-generation sequencing study.Clinical and experimental immunology · 2021Article
- Interleukin-1 pathway in active large vessel vasculitis patients with a poor prognosis: a longitudinal transcriptome analysis.Clinical & translational immunology · 2021Article
- Understanding Behçet's Disease in the Context of Innate Immunity Activation.Frontiers in immunology · 2020Review
- UVEOGENE: An SNP database for investigations on genetic factors associated with uveitis and their relationship with other systemic autoimmune diseases.Human mutation · 2019Article
- Behçet's disease and genetic interactions between HLA-B*51 and variants in genes of autoinflammatory syndromes.Scientific reports · 2019Article
- Behçet's Disease: An Overview of Etiopathogenesis.Frontiers in immunology · 2019Review
- Immune Regulatory Genes Are Major Genetic Factors to Behcet Disease: Systematic Review.The open rheumatology journal · 2018Review
Corrections and comments
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Authors and funding
22 authors at 17 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Behçet's disease (BD) is an immune-mediated systemic disorder with a well-established association with HLA class I and other genes. BD has clinical overlap with many autoinflammatory diseases (AIDs). The aim of this study was to investigate the role of rare variants in seven genes involved in AIDs: CECR1, MEFV, MVK, NLRP3, NOD2, PSTPIP1 and TNFRSF1A using a next generation sequencing (NGS) approach in 355 BD patients. To check global association of each gene, 4 tests: SKAT, CollapseBt, C(α) and weighted KBAC were used. Databases: 1000 Genomes Project Phase 3, Infevers, HGMD and ClinVar and algorithms: PolyPhen2 and SIFT were consulted to collect information of the 62 variants found. All the genes resulted associated using SKAT but only 3 (MVK, NOD2 and PSTPIP1) with C(α) and weighted KBAC. When all the genes are considered, 40 variants were associated to AIDs in clinical databases and 25 were predicted as pathogenic at least by one of the algorithms. Including only MVK, NOD2 and PSTPIP1, the associated to AIDs variants found in BD were 20 and the predicted as pathogenic, 12. The maxima contribution corresponds to NOD2. This study supports influence of rare variants in genes involved in AIDs in the pathogenesis of BD.
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