Identifying SNP targeted pathways in partial epilepsies with genome-wide association study data

Bakir-Gungor B., Baykan B., Iseri S. U., Tuncer F. N., Sezerman O. U.

EPILEPSY RESEARCH, cilt.105, ss.92-102, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 105
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1016/j.eplepsyres.2013.02.008
  • Dergi Adı: EPILEPSY RESEARCH
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.92-102
  • Anahtar Kelimeler: Genome-wide association studies, Pathways, Partial epilepsy, Focal epilepsy, Epilepsy genetics, Epileptogenesis, FRONTAL-LOBE EPILEPSY, PROTEIN INTERACTION NETWORK, SUSCEPTIBILITY LOCI, MISSENSE MUTATIONS, TENASCIN-R, GENE, FEATURES, EPILEPTOGENESIS, CLASSIFICATION, TRANSCRIPTOME
  • İstanbul Üniversitesi Adresli: Evet

Özet

Purpose: In a recent genome-wide association study for partial epilepsies in the European population, a common genetic variation has been reported to affect partial epilepsy only modestly. However, in complex diseases such as partial epilepsy, multiple factors (e.g. single nucleotide polymorphisms, microRNAs, metabolic and epigenetic factors) may target different sets of genes in the same pathway, affecting its function and thus causing the disease development. In this regard, we hypothesize that the pathways are critical for elucidating the mechanisms underlying partial epilepsy.