Systems-level analysis of genome wide association study results for a pilot juvenile idiopathic arthritis family study

Date

2015-01-01

Author

Aydın Son, Yeşim
Demirkaya, Erkan
BİLGİNER, YELDA
KASAPÇOPUR, Özgür
Unsal, Erbil
ALİKAŞİFOĞLU, MEHMET
ÖZEN, SEZA

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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 Fc gamma R-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 Fc gamma R-mediated 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.

Subject Keywords

Genome wide association study, Juvenile idiopathic arthritis, Single nucleotide polymorphism, Transmission disequilibrium test, Trio analysis

URI

https://hdl.handle.net/11511/55013

Journal

TURKISH JOURNAL OF PEDIATRICS

Collections

Graduate School of Informatics, Article

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Citation Formats

Y. Aydın Son et al., “Systems-level analysis of genome wide association study results for a pilot juvenile idiopathic arthritis family study,” TURKISH JOURNAL OF PEDIATRICS, pp. 324–333, 2015, Accessed: 00, 2020. [Online]. Available: https://hdl.handle.net/11511/55013.