title: Systems-level analysis of genome wide association study results for a pilot juvenile idiopathic arthritis family study.
abstract: Genome wide association studies (GWAS) determine susceptibility profiles for complex diseases. In this study, GWAS was performed in 26 patients with oligo and rheumatoid factor negative polyarticular juvenile idiopathic artritis (JIA) and their healthy parents by Affymetrix 250K SNP arrays. Biological function and pathway enrichment analysis was done. This is the first GWAS reported for JIA families from the eastern Mediterranean population. Enrichment of FcγR-mediated phagocytosis pathway and response to various stimuli were the leading discoveries, along with the presentation of the strong interaction of JIA-associated genes with HLA cluster in the co-expression network. The co-expression network also presented the direct interaction of a gene in FcγRmediated phagocytosis pathway, namely GAB2, with BLK, CDH13, IL4R and MICA. The systems biology approach helped us to investigate the interactions between the identified genes and biological pathways and molecular functions, expanding our understanding of JIA pathogenesis at molecular level.
authors.affiliation: Department of Health Informatics, Middle East Technical University, Informatics Institute, Ankara, Turkey. sezaozen@hacettepe.edu.tr.
authors.forename: Yeşim
authors.initials: Y
authors.lastname: Aydın-Son
authors.forename: Ezgi Deniz
authors.initials: ED
authors.lastname: Batu
authors.forename: Erkan
authors.initials: E
authors.lastname: Demirkaya
authors.forename: Yelda
authors.initials: Y
authors.lastname: Bilginer
authors.forename: Özgür
authors.initials: Ö
authors.lastname: Kasapçopur
authors.forename: Erbil
authors.initials: E
authors.lastname: Ünsal
authors.forename: Mehmet
authors.initials: M
authors.lastname: Alikaşifoglu
authors.forename: Seza
authors.initials: S
authors.lastname: Özen
mesh_terms: D000293:Adolescent; D001171:Arthritis, Juvenile / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D010865:Pilot Projects