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P18 Investigating the role of rare genetic variants and susceptibility to juvenile idiopathic arthritis highlights the importance of monogenic disease genes by Tordoff, Melissa K; Briggs, Tracy A; Smith, Samantha L; Yarwood, Annie; Thomson, Wendy; Bowes, John is a Medicine article available to read on EtoBox.
What is P18 Investigating the role of rare genetic variants and susceptibility to juvenile idiopathic arthritis highlights the importance of monogenic disease genes about?
## Abstract ## Background Juvenile idiopathic arthritis (JIA) is a rheumatic disease, onset before the age of sixteen. JIA is a common complex disease, with contributions from both genetic and environmental risk factors. However, given the young age of onset for JIA, it is possible that genetic risk factors influence susceptibility to a greater extent than environmental risk factors. While several susceptibility loci have been identified for JIA, they are mainly genetic variants that are common in the population. The role of rare genetic variants has not yet been fully explored in JIA. Therefore, the aims of this research were to use rare (<5%MAF) variant based analysis to further define the genetic architecture of JIA. ## Methods A total of 2,162 UK JIA cases were genotyped using the Illumina HumanCoreExome array and the Understanding Society’s UK household longitudinal study provided the genotype data for 9196 controls. Single variant analysis was used to calculate the association of variants to JIA susceptibility. Gene-based aggregation analysis, specifically the SKAT-O method, were used to calculate the association of whole gene regions to JIA cases. This gene-based aggregation
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It is typically read by researchers, students, and practitioners in Medicine.
- Author
- Tordoff, Melissa K; Briggs, Tracy A; Smith, Samantha L; Yarwood, Annie; Thomson, Wendy; Bowes, John
- Publisher
- Oxford University Press; Oxford University Press (OUP) (ISSN 1462-0324)
- Published
- 2020
- Language
- EN
- Field
- Medicine (Health Sciences)