Autoinflammatory Syndromes

doi:10.1007/978-1-84628-421-2_10

Cited by 1 publication

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“…Recent advancements in the understanding of the molecular basis of these disorders have resulted in their accurate classification presently encompassing more than 31 disorders involving over 30 genes 3-54,6-8 . Several studies in recent years have established a molecular basis for the diagnosis of autoinflammatory diseases] 9,10 .…”

Section: Introductionmentioning

confidence: 99%

Genetic landscape of rare autoinflammatory disease variants in Qatar and Middle Eastern populations through the integration of whole-genome and exome datasets

Sharma

Jain

Scaria

2020

Preprint

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Rare autoinflammatory diseases are a group of recurrent inflammatory genetic disorders caused due to genetic mutations in over 37 genes and typically have a recessive mode of inheritance. While a number of these disorders have been identified and reported from the Middle Eastern populations, the carrier frequency of these genetic mutations in the Middle Eastern populations is not known. The availability of whole-genome and exome datasets of over a thousand individuals from Qatar persuaded us to explore the genetic epidemiology of rare autoinflammatory genetic variants in the Middle East. We have systematically analyzed genetic variants in genome-scale datasets from Qatar with a compendium of variants associated with autoinflammatory diseases. The variants were further systematically reclassified according to the American College of Medical Genetics and Genomics (ACMG & AMP) guidelines for interpretation of pathogenicity of sequence variants. Our analysis identified 7 pathogenic and likely pathogenic variants with a significant difference in their allele frequencies compared to the global population. The cumulative carrier frequency of these variants was 2.58%. Furthermore, our analysis revealed that 5 genes implicated in rare autoinflammatory diseases were under natural selection. To our best knowledge, this is the first and comprehensive study on the population-scale analysis and genetic epidemiology for genetic variants causing rare autoinflammatory disease in any Middle Eastern population. Keywords: Autoinflammatory disease, Qatar, Middle East, genome, Epidemiology

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