Am J Med Genet B Neuropsychiatr Genet
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.
Published: February 2004
Autism is a neurodevelopmental disorder characterized by stereotypic and repetitive behavior and interests, together with social and communicative deficiencies. The results of several genomic screens suggest the presence of an autism susceptibility locus on chromosome 19p13.2-q13.4. The apolipoprotein E (APOE) gene on chromosome 19 encodes for a protein, apoE, whose different isoforms (E2, E3, E4) influence neuronal growth. APOE participates in lipid transport and metabolism, repair, growth, and maintenance of axons and myelin during neuronal development. The APOE protein competes with the Reelin protein for VLDL/APOER2 receptor binding. Several studies have reported evidence for an association between autism and the Reelin gene. Based on these data we tested for association between APOE and autism using family-based association methods in a data set of 322 autism families. Three promoter, one intronic, and one 3' UTR single nucleotide polymorphisms (SNPs) in the APOE gene (-491a/t, -427c/t, -219g/t, 113c/g, and 5361c/t) as well as the APOE functional polymorphism (E2, E3, E4) were examined and failed to reveal significant evidence that autism is associated with APOE.
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http://dx.doi.org/10.1002/ajmg.b.20104 | DOI Listing |
Clin Transl Med
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Vascular Research Laboratory, IIS-Fundación Jiménez Díaz, Madrid, Spain.
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EuroEspes Biomedical Research Center, International Center of Neuroscience and Genomic Medicine, Bergondo, Corunna, Spain.
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Department of Cardiovascular Medicine, The Affiliated Panyu Central Hospital of Guangzhou Medical University (Cardiovascular Diseases Research Institute of Panyu District), No. 8, Fuyu East Road, Qiaonan Street, Panyu District, Guangzhou, 511400, China.
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Department of Internal Medicine, Erasmus MC Cardiovascular Institute, University Medical Center Rotterdam, Rotterdam, the Netherlands. Electronic address:
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Department of Endocrinology, Institute of Endocrine and Metabolic Diseases, The First Affiliated Hospital of USTC, and Center for Advanced Interdisciplinary Science and Biomedicine of IHM, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230027, China; Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China, Hefei 230027, China. Electronic address:
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