Journals / Turkish Journal of Pediatrics / 2015 / Cilt: 57 - Sayı: 4

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

Pages
324–333
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

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.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Aydın-Son Y, Batu ED, Demirkaya E, Bilginer Y, Kasapçopur Ö, Ünsal E, Alikaşifoğlu M, Özen S.
📊
Key Findings & Data:Turk J Pediatr 2015; 57: 324-333.Genome wide association studies (GWAS) determine susceptibility profiles for complex diseases.
💡
Conclusion & Impact: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.
🔬Design:Research Article
📍Scope:2015 Verileri
⚙️Variables:Domain Parameters

Özet

Aydın-Son Y, Batu ED, Demirkaya E, Bilginer Y, Kasapçopur Ö, Ünsal E, Alikaşifoğlu M, Özen S. Systems-level analysis of genome wide association study results for a pilot juvenile idiopathic arthritis family study. Turk J Pediatr 2015; 57: 324-333.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?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?Rmediated 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.

🔖

Cite This Article

AYDIN-SON, Y., AKAL, E. D. B., DEMİRKAYA, E., BİLGİNER, Y., KASAPÇOPUR, Ö., ÜNSAL, E., ALİKAŞİFOĞLU, M., ÖZEN, S. (2015). Systems-level analysis of genome wide association study results for a pilot juvenile idiopathic arthritis family study. Turkish Journal of Pediatrics, Cilt: 57 - Sayı: 4, 324–333. https://ajindex.com/articles/412283

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (15)

  1. Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science 2005; 308: 385-389
  2. Prakken B, Albani S and Martini A. Juvenile idiopathic arthritis. Lancet 2011; 377: 2138-2149
  3. Hinks A, Barton A, Shephard N, et al. Identification of a novel susceptibility locus for juvenile idiopathic arthritis by genome-wide association analysis. Arthritis Rheum 2009; 60: 258-263
  4. Petty RE, Southwood TR, Baum J, et al. Revision of the proposed classification criteria for juvenile idiopathic arthritis: Durban, 1997. J Rheumatol 1998; 25: 1991- 1994
  5. Petty RE, Southwood TR, Manners P, et al. International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001. J Rheumatol 2004; 31: 390-392
  6. Mellins ED, Macaubas C and Grom AA. Pathogenesis of systemic juvenile idiopathic arthritis: some answers, more questions. Nat Rev Rheumatol 2011; 7: 416-426
  7. Demirkaya E, Ozen S, Bilginer Y, et al. The distribution of juvenile idiopathic arthritis in the eastern Mediterranean: results from the registry of the Turkish Paediatric Rheumatology Association. Clin Exp Rheumatol 2011; 29: 111-116
  8. Thompson SD, Marion MC, Sudman M, et al. Genomewide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13. Arthritis Rheum 2012; 64: 2781-2791
  9. Prahalad S and Glass DN. A comprehensive review of the genetics of juvenile idiopathic arthritis. Pediatr Rheumatol Online J 2008; 6: 11
  10. Prahalad S. Genetics of juvenile idiopathic arthritis: an update. Curr Opin Rheumatol 2004; 16: 588-594
  11. Rosen P, Thompson S, Glass D. Non-HLA gene polymorphisms in juvenile rheumatoid arthritis. Clin Exp Rheumatol 2003; 21: 650-656
  12. Dudbridge F. Family-based association studies. Methods Mol Biol 2011; 713: 119-127
  13. Infante-Rivard C, Mirea L, Bull SB. Combining casecontrol and case-trio data from the same population in genetic association analyses: overview of approaches and illustration with a candidate gene study. Am J Epidemiol 2009; 170: 657-664
  14. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81: 559-575
  15. Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 1993; 52: 506-516. 16.