BACKGROUND: Tissue gene expression profiling with arrays measures the transcription of thousands of genes. However, this approach cannot be readily used to guide clinical neurologic practice. OBJECTIVES: To determine whether clinical neurologic diseases are associated with unique patterns of up- and down-regulated genes in whole blood and to explore the possibility of using peripheral blood as a surrogate tissue in these diseases. DESIGN: Case-control study. SETTING: University-based pediatric and adult neurology clinics. PARTICIPANTS: Patients with neurofibromatosis type 1, epilepsy, or Tourette syndrome diagnosed using traditional clinical criteria; controls without disease; and controls with neurologic disease. MAIN OUTCOME MEASURE: Blood gene expression levels of greater than 12,000 genes, measured using U95A arrays. RESULTS: Neurofibromatosis type 1 and childhood epilepsy treated with carbamazepine or valproic acid are associated with distinct patterns of blood gene expression. Patients with valproic acid-responsive vs valproic acid-refractory epilepsy formed distinct subclusters. Tourette syndrome was characterized by several gene expression clusters. In 1 cluster, 6 genes-all associated with immune cell function-were overexpressed. CONCLUSION: Blood gene expression profiling can provide surrogate markers for neurologic diseases without obvious blood phenotypes.
BACKGROUND: Tissue gene expression profiling with arrays measures the transcription of thousands of genes. However, this approach cannot be readily used to guide clinical neurologic practice. OBJECTIVES: To determine whether clinical neurologic diseases are associated with unique patterns of up- and down-regulated genes in whole blood and to explore the possibility of using peripheral blood as a surrogate tissue in these diseases. DESIGN: Case-control study. SETTING: University-based pediatric and adult neurology clinics. PARTICIPANTS: Patients with neurofibromatosis type 1, epilepsy, or Tourette syndrome diagnosed using traditional clinical criteria; controls without disease; and controls with neurologic disease. MAIN OUTCOME MEASURE: Blood gene expression levels of greater than 12,000 genes, measured using U95A arrays. RESULTS:Neurofibromatosis type 1 and childhood epilepsy treated with carbamazepine or valproic acid are associated with distinct patterns of blood gene expression. Patients with valproic acid-responsive vs valproic acid-refractory epilepsy formed distinct subclusters. Tourette syndrome was characterized by several gene expression clusters. In 1 cluster, 6 genes-all associated with immune cell function-were overexpressed. CONCLUSION: Blood gene expression profiling can provide surrogate markers for neurologic diseases without obvious blood phenotypes.
Authors: Yingfang Tian; Isaac H Liao; Xinhua Zhan; Joan R Gunther; Bradley P Ander; Dazhi Liu; Lisa Lit; Glen C Jickling; Blythe A Corbett; Netty G P Bos-Veneman; Pieter J Hoekstra; Frank R Sharp Journal: Am J Med Genet B Neuropsychiatr Genet Date: 2010-11-17 Impact factor: 3.568
Authors: Haiqun Lin; Kyle A Williams; Liliya Katsovich; Diane B Findley; Heidi Grantz; Paul J Lombroso; Robert A King; Debra E Bessen; Dwight Johnson; Edward L Kaplan; Angeli Landeros-Weisenberger; Heping Zhang; James F Leckman Journal: Biol Psychiatry Date: 2009-10-14 Impact factor: 13.382
Authors: Maureen V Martin; Brandi Rollins; P Adolfo Sequeira; Andrea Mesén; William Byerley; Richard Stein; Emily A Moon; Huda Akil; Edward G Jones; Stanley J Watson; Jack Barchas; Lynn E DeLisi; Richard M Myers; Alan Schatzberg; William E Bunney; Marquis P Vawter Journal: BMC Med Genomics Date: 2009-09-22 Impact factor: 3.063
Authors: Boryana S Stamova; Michelle Apperson; Wynn L Walker; Yingfang Tian; Huichun Xu; Peter Adamczy; Xinhua Zhan; Da-Zhi Liu; Bradley P Ander; Isaac H Liao; Jeffrey P Gregg; Renee J Turner; Glen Jickling; Lisa Lit; Frank R Sharp Journal: BMC Med Genomics Date: 2009-08-05 Impact factor: 3.063