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L. Weiss, Gülüm Kosova, Ryan Delahanty, Lan Jiang, E. Cook, C. Ober, J. Sutcliffe (2006)
Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibilityEuropean Journal of Human Genetics, 14
G. Herman, E. Butter, B. Enrile, M. Pastore, T. Prior, A. Sommer (2007)
Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephalyAmerican Journal of Medical Genetics Part A, 143A
S. Horvath, Xin Xu, S. Lake, E. Silverman, S. Weiss, N. Laird (2004)
Family‐based tests for associating haplotypes with general phenotype data: Application to asthma geneticsGenetic Epidemiology, 26
H. Allgayer (2006)
Regulation and Clinical Significance of Urokinase-Receptor (u-PAR), an Invasion-Related MoleculeZeitschrift für Gastroenterologie, 44
J. Ioannidis (2007)
Non-Replication and Inconsistency in the Genome-Wide Association SettingHuman Heredity, 64
H. Jyonouchi, L. Geng, Agnès Ruby, B. Zimmerman-Bier (2005)
Dysregulated Innate Immune Responses in Young Children with Autism Spectrum Disorders: Their Relationship to Gastrointestinal Symptoms and Dietary InterventionNeuropsychobiology, 51
W. Xue, I. Mizukami, R. Todd, H. Petty (1997)
Urokinase-type plasminogen activator receptors associate with beta1 and beta3 integrins of fibrosarcoma cells: dependence on extracellular matrix components.Cancer research, 57 9
D. Campbell, J. Sutcliffe, P. Ebert, R. Militerni, C. Bravaccio, S. Trillo, M. Elia, C. Schneider, R. Melmed, R. Sacco, A. Persico, P. Levitt (2006)
A genetic variant that disrupts MET transcription is associated with autismProceedings of the National Academy of Sciences, 103
S. Horvath, Xin Xu, N. Laird (2001)
The family based association test method: strategies for studying general genotype–phenotype associationsEuropean Journal of Human Genetics, 9
W. Xue, I. Mizukami, R. Todd, H. Petty (1997)
Urokinase-Type Plasminogen Activator Receptors Associate with β1 and β3 Integrins of Fibrosarcoma Cells: Dependence on Extracellular Matrix ComponentsCancer Research, 57
Heng Wang, J. Hicks, Parham Khanbolooki, Sun-jin Kim, Chunhong Yan, Yao Wang, D. Boyd (2003)
Transgenic mice demonstrate novel promoter regions for tissue-specific expression of the urokinase receptor gene.The American journal of pathology, 163 2
M. Olivier (2003)
A haplotype map of the human genomeNature, 437
E. Powell, D. Campbell, G. Stanwood, Caleb Davis, J. Noebels, P. Levitt (2003)
Genetic Disruption of Cortical Interneuron Development Causes Region- and GABA Cell Type-Specific Deficits, Epilepsy, and Behavioral DysfunctionThe Journal of Neuroscience, 23
T. Tarui, A. Mazar, D. Cines, Y. Takada (2001)
Urokinase-type Plasminogen Activator Receptor (CD87) Is a Ligand for Integrins and Mediates Cell-Cell Interaction*The Journal of Biological Chemistry, 276
A. Persico, T. Bourgeron (2006)
Searching for ways out of the autism maze: genetic, epigenetic and environmental cluesTrends in Neurosciences, 29
H. Cordell, B. Barratt, D. Clayton (2004)
Case/pseudocontrol analysis in genetic association studies: A unified framework for detection of genotype and haplotype associations, gene‐gene and gene‐environment interactions, and parent‐of‐origin effectsGenetic Epidemiology, 26
(2005)
integrin-interacting epitope with intrinsic signaling activity: generation of a new integrin inhibitor
Centers for Disease Control and Prevention (2007)
Prevalence of autism spectrum disorders-autism and developmental disabilities monitoring network, 14 sites, United States, 2002Morbidity and Mortality Weekly Report: Surveillance Summaries, 56
M. Butler, Dasouki Mj, Xiao-ping Zhou, Z. Talebizadeh, Myles Brown, Takahashi Tn, J. Miles, C. Wang, R. Stratton, R. Pilarski, C. Eng (2005)
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutationsJournal of Medical Genetics, 42
P. Sullivan (2007)
Spurious Genetic AssociationsBiological Psychiatry, 61
D. Campbell, Rosanna D'Oronzio, K. Garbett, P. Ebert, K. Mirnics, P. Levitt, A. Persico (2007)
Disruption of cerebral cortex MET signaling in autism spectrum disorderAnnals of Neurology, 62
D. Geschwind, P. Levitt (2007)
Autism spectrum disorders: developmental disconnection syndromesCurrent Opinion in Neurobiology, 17
P. Levitt, K. Eagleson, E. Powell (2004)
Regulation of neocortical interneuron development and the implications for neurodevelopmental disordersTrends in Neurosciences, 27
E. Powell, W. Mars, P. Levitt (2001)
Hepatocyte Growth Factor/Scatter Factor Is a Motogen for Interneurons Migrating from the Ventral to Dorsal TelencephalonNeuron, 30
Abha Gupta, M. State (2007)
Recent Advances in the Genetics of AutismBiological Psychiatry, 61
P. Levitt (2005)
Disruption of Interneuron DevelopmentEpilepsia, 46
K. Eagleson, A. Bonnin, P. Levitt (2005)
Region‐ and age‐specific deficits in γ‐aminobutyric acidergic neuron development in the telencephalon of the uPAR–/– mouseJournal of Comparative Neurology, 489
B. Degryse, M. Resnati, R. Czekay, D. Loskutoff, F. Blasi (2005)
Domain 2 of the Urokinase Receptor Contains an Integrin-interacting Epitope with Intrinsic Signaling ActivityJournal of Biological Chemistry, 280
Zaibo Li, Tiefei Dong, C. Pröschel, M. Noble (2007)
Chemically Diverse Toxicants Converge on Fyn and c-Cbl to Disrupt Precursor Cell FunctionPLoS Biology, 5
Maria Valicenti-McDermott, K. McVicar, I. Rapin, B. Wershil, H. Cohen (2006)
Frequency of Gastrointestinal Symptoms in Children with Autistic Spectrum Disorders and Association with Family History of Autoimmune DiseaseJournal of Developmental & Behavioral Pediatrics, 27
J. White (2003)
Intestinal Pathophysiology in AutismExperimental Biology and Medicine, 228
M. Herbert, J. Russo, S. Yang, J. Roohi, M. Blaxill, S. Kahler, L. Cremer, E. Hatchwell (2006)
Autism and environmental genomics.Neurotoxicology, 27 5
N. Lokker, M. Mark, E. Luis, G. Bennett, K. Robbins, Joffre Bakerl, P. Godowski (1992)
Structure‐function analysis of hepatocyte growth factor: identification of variants that lack mitogenic activity yet retain high affinity receptor binding.The EMBO Journal, 11
A functional promoter variant of the gene encoding the MET receptor tyrosine kinase alters SP1 and SUB1 transcription factor binding, and is associated with autism spectrum disorder (ASD). Recent analyses of postmortem cerebral cortex from ASD patients revealed altered expression of MET protein and three transcripts encoding proteins that regulate MET signaling, hepatocyte growth factor (HGF), urokinase plasminogen activator receptor (PLAUR) and plasminogen activator inhibitor‐1 (SERPINE1). To address potential risk conferred by multiple genes in the MET signaling pathway, we screened all exons and 5′ promoter regions for variants in the five genes encoding proteins that regulate MET expression and activity. Identified variants were genotyped in 664 families (2,712 individuals including 1,228 with ASD) and 312 unrelated controls. Replicating our initial findings, family‐based association test (FBAT) analyses demonstrated that the MET promoter variant rs1858830 C allele was associated with ASD in 101 new families (P=0.033). Two other genes in the MET signaling pathway also may confer risk. A haplotype of the SERPINE1 gene exhibited significant association. In addition, the PLAUR promoter variant rs344781 T allele was associated with ASD by both FBAT (P=0.006) and case–control analyses (P=0.007). The PLAUR promoter rs344781 relative risk was 1.93 (95% confidence interval (CI): 1.12–3.31) for genotype TT and 2.42 (95% CI: 1.38–4.25) for genotype CT compared to genotype CC. Gene–gene interaction analyses suggested a significant interaction between MET and PLAUR. These data further support our hypothesis that genetic susceptibility impacting multiple components of the MET signaling pathway contributes to ASD risk.
Autism Research – Wiley
Published: Jun 1, 2008
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