title: Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and Down's syndrome.
abstract: Blood gene expression profiling has been applied to a variety of hematological malignancies, autoimmune disorders, and infectious diseases. This study applies this approach to genetic diseases without obvious blood phenotypes. Three genetic diseases including tuberous sclerosis complex 2, neurofibromatosis type 1, and Down's syndrome were compared with a group of healthy controls. RNA from whole blood was surveyed using Affymetrix U133A arrays. Each disease was associated with a unique gene expression pattern in blood that can be accurately distinguished by a classifier. Genes on chromosome 21 were overexpressed in Down's syndrome, and genes controlling cell cycle and proliferation were associated with tuberous sclerosis complex type 2 or neurofibromatosis type 1. A subset of genes involved in cardiac development or remodeling were overexpressed in patients with Down's syndrome and congenital heart defects. These findings suggest that blood gene expression profiling on a broader basis might be useful for genetic disease screening/diagnosis and might help elucidate mechanisms and pathways that lead to genotype-phenotype differences.
authors.affiliation: Department of Neurology and MIND Institute, University of California at Davis, Sacramento, CA, USA. yang.tang@ucdmc.udavis.edu
authors.forename: Yang
authors.initials: Y
authors.lastname: Tang
authors.forename: Mark B
authors.initials: MB
authors.lastname: Schapiro
authors.forename: David N
authors.initials: DN
authors.lastname: Franz
authors.forename: Bonnie J
authors.initials: BJ
authors.lastname: Patterson
authors.forename: Francis J
authors.initials: FJ
authors.lastname: Hickey
authors.forename: Elizabeth K
authors.initials: EK
authors.lastname: Schorry
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Hopkin
authors.forename: Matthew
authors.initials: M
authors.lastname: Wylie
authors.forename: Tina
authors.initials: T
authors.lastname: Narayan
authors.forename: Tracy A
authors.initials: TA
authors.lastname: Glauser
authors.forename: Donald L
authors.initials: DL
authors.lastname: Gilbert
authors.forename: Andrew D
authors.initials: AD
authors.lastname: Hershey
authors.forename: Frank R
authors.initials: FR
authors.lastname: Sharp
mesh_terms: D016000:Cluster Analysis; D004314:Down Syndrome / Q000097:blood* / Q000235:genetics; D020869:Gene Expression Profiling / Q000379:methods*; D005786:Gene Expression Regulation / Q000502:physiology; D006801:Humans; D009456:Neurofibromatosis 1 / Q000097:blood* / Q000235:genetics; D012097:Repressor Proteins / Q000096:biosynthesis / Q000097:blood* / Q000235:genetics; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins
chemical_list: D012097:Repressor Proteins; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins