Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder

Persico, A M; D'Agruma, L; Maiorano, N; Totaro, A; Militerni, R; Bravaccio, C; Wassink, T H; Schneider, C; Melmed, R; Trillo, S; Montecchi, F; Palermo, M; Pascucci, T; Puglisi-Allegra, S; Reichelt, K-L; Conciatori, M; Marino, R; Quattrocchi, C C; Baldi, A; Zelante, L; Gasparini, P; Keller, F

doi:10.1038/sj.mp.4000850

Cited by 337Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersGenetic Associations and Epidemiology

Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder

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Persico, A M, D'Agruma, L, Maiorano, N, Totaro, A, Militerni, R, Bravaccio, C, Wassink, T H, Schneider, C +14 more·2001·Molecular Psychiatry

DOI 10.1038/sj.mp.4000850

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Abstract

Autistic disorder (MIM 209850) is currently viewed as a neurodevelopmental disease. Reelin plays a pivotal role in the development of laminar structures including the cerebral cortex, hippocampus, cerebellum and of several brainstem nuclei. Neuroanatomical evidence is consistent with Reelin involvement in autistic disorder. In this study, we describe several polymorphisms identified using RNA-SSCP and DNA sequencing. Association and linkage were assessed comparing 95 Italian patients to 186 ethnically-matched controls, and using the transmission/disequilibrium test and haplotype-based haplotype relative risk in 172 complete trios from 165 families collected in Italy and in the USA. Both case-control and family-based analyses yield a significant association between autistic disorder and a polymorphic GGC repeat located immediately 5' of the reelin gene (RELN) ATG initiator codon, as well as with specific haplotypes formed by this polymorphism with two single-base substitutions located in a splice junction in exon 6 and within exon 50. Triplet repeats located in 5' untranslated regions (5'UTRs) are indicative of strong transcriptional regulation. Our findings suggest that longer triplet repeats in the 5'UTR of the RELN gene confer vulnerability to autistic disorder.

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Diagnostic and Statistical Manual of Mental Disorders
Williams, J. B. W., & First, M. B. (2013) · Oxford University Press eBooks · doi:10.1093/acrefore/9780199975839.013.104 · Cited by 109,841 · see citing works
Statistical Methods for Rates and Proportions
Fleiss, J. L., Levin, B., & Paik, M. C. (2003) · Wiley Series in Probability and Statistics · doi:10.1002/0471445428 · Cited by 18,646 · see citing works
Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM).
Spielman, R. S., McGinnis, R. E., & Ewens, W. J. (1993) · PubMed · Cited by 3,679 · see citing works
A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies
Lahiri, D. K., & Nürnberger, J. I. (1991) · Nucleic Acids Research · doi:10.1093/nar/19.19.5444 · Cited by 2,313 · see citing works
Power and sample size calculations
Dupont, W. D., & Plummer, W. D. (1990) · Controlled Clinical Trials · doi:10.1016/0197-2456(90)90005-m · Cited by 2,112 · see citing works
A protein related to extracellular matrix proteins deleted in the mouse mutant reeler
D'Arcangelo, G., G. Miao, G., Chen, S.-C., Scares, H. D., Morgan, J. I., & Curran, T. (1995) · Nature · doi:10.1038/374719a0 · Cited by 1,748 · see citing works
A clinicopathological study of autism
Bailey, A. (1998) · Brain · doi:10.1093/brain/121.5.889 · Cited by 1,083 · see citing works
Autism diagnostic interview: A standardized investigator-based instrument
Le Couteur, A., Rutter, M., Lord, C., Rios, P., Robertson, S., Holdgrafer, M., & McLennan, J. (1989) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02212936 · Cited by 1,036 · see citing works
Monte Carlo tests for associations between disease and alleles at highly polymorphic loci
Sham, P. C., & Curtis, D. (1995) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1995.tb01608.x · Cited by 914 · see citing works
BEHAVIOR CHECKLIST FOR IDENTIFYING SEVERELY HANDICAPPED INDIVIDUALS WITH HIGH LEVELS OF AUTISTIC BEHAVIOR
Krug, D. A., Arick, J. R., & Almond, P. (1980) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.1980.tb01797.x · Cited by 903 · see citing works
The TDT and other family-based tests for linkage disequilibrium and association.
(1996) · PubMed Central · Cited by 901 · see citing works
The reeler gene-associated antigen on cajal-retzius neurons is a crucial molecule for laminar organization of cortical neurons
Ogawa, M., Miyata, T., Nakajimat, K., Yagyu, K., Seike, M., Ikenaka, K., Yamamoto, H., & Mikoshibat, K. (1995) · Neuron · doi:10.1016/0896-6273(95)90329-1 · Cited by 889 · see citing works
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations
Hong, S. E., Shugart, Y. Y., Huang, D. T.-C., Shahwan, S. A., Grant, P. E., Hourihane, J. O., Martin, N. D. T., & Walsh, C. A. (2000) · Nature Genetics · doi:10.1038/79246 · Cited by 878 · see citing works
A decrease of reelin expression as a putative vulnerability factor in schizophrenia
Impagnatiello, F., Guidotti, A. R., Pesold, C., Dwivedi, Y., Caruncho, H. J., Pisu, M. G., Uzunov, D. P., Smalheiser, N. R., Davis, J. M., Pandey, G. N., et al. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.26.15718 · Cited by 753 · see citing works
Movement analysis in infancy may be useful for early diagnosis of autism
Teitelbaum, P., Teitelbaum, O., Nye, J., Fryman, J., & Maurer, R. G. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.23.13982 · Cited by 713 · see citing works
A Genomic Screen of Autism: Evidence for a Multilocus Etiology
Risch, N., Spiker, D., Lotspeich, L., Nouri, N., Hinds, D., Hallmayer, J., Kalaydjieva, L., McCague, P., Dimiceli, S., Pitts, T., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302497 · Cited by 684 · see citing works
Computer methods to locate signals in nucleic acid sequences
Staden, R. (1984) · Nucleic Acids Research · doi:10.1093/nar/12.1part2.505 · Cited by 667 · see citing works
Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
Rousseau, F., Heitz, D., Biancalana, V., Blumenfeld, S., Kretz, C., Boué, J., Tommerup, N., Hagen, C. V. D., DeLozier-Blanchet, C. D., Croquette, M., et al. (1991) · New England Journal of Medicine · doi:10.1056/nejm199112123252401 · Cited by 643 · see citing works
An extended transmission/disequilibrium test (TDT) for multi‐allele marker loci
Sham, P. C., & Curtis, D. (1995) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1995.tb00751.x · Cited by 609 · see citing works
Leiter International Performance Scale
McCloskey, G. (1987) · Digital Commons - PCOM (Philadelphia College of Osteopathic Medicine) · Cited by 579 · see citing works
Neuropsychologic functioning in autism: Profile of a complex information processing disorder.
MINSHEW, N. J., GOLDSTEIN, G., & SIEGEL, D. J. (1997) · Journal of the International Neuropsychological Society · doi:10.1017/s1355617797003032 · Cited by 572 · see citing works
A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium
Bailey, A. J., Amaia Hervas, G., Matthews, N., Palferman, S., Wallace, S., Aubin, A., Michelotti, J., Wainhouse, C., Papanikolaou, Κ., Rutter, M. L., et al. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.3.571 · Cited by 537 · see citing works
An E-M algorithm and testing strategy for multiple-locus haplotypes.
Long, J. C., Williams, R. C., & Urbanek, M. (1995) · Europe PMC (PubMed Central) · Cited by 533 · see citing works
A Haplotype-Based Haplotype Relative Risk’ Approach to Detecting Allelic Associations
Terwilliger, J. D., & Ott, J. (1992) · Human Heredity · doi:10.1159/000154096 · Cited by 486 · see citing works
A role for Cajal–Retzius cells and reelin in the development of hippocampal connections
Del Río, J. A., Heimrich, B., Borrell, V., Förster, E., Drakew, A., Alcántara, S., Nakajima, K., Miyata, T., Ogawa, M., Mikoshiba, K., et al. (1997) · Nature · doi:10.1038/385070a0 · Cited by 472 · see citing works
Genome-Wide Scan for Autism Susceptibility Genes
Philippe, A., Martinez, M., Guilloud-Bataille, M., Gillberg, C., Rastam, M., Sponheim, E., Coleman, M., Zappella, M., Aschauer, H., Van Maldergem, L., et al. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.5.805 · Cited by 471 · see citing works
Brainstem, cerebellar and limbic neuroanatomical abnormalities in autism
Courchesne, E. (1997) · Current Opinion in Neurobiology · doi:10.1016/s0959-4388(97)80016-5 · Cited by 401 · see citing works
Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: a twin and family history study of autism.
Pickles, A. R., Bolton, P., Macdonald, H., Bailey, A., Couteur, A. S. L., Sim, C. H., & Rutter, M. L. (1995) · Europe PMC (PubMed Central) · Cited by 388 · see citing works
Regional brain enlargement in autism: a magnetic resonance imaging study.
Piven, J., Arndt, S., Bailey, J., & Andreasen, N. (1996) · Journal of the American Academy of Child and Adolescent Psychiatry · doi:10.1097/00004583-199604000-00020 · Cited by 354 · see citing works
The reeler gene encodes a protein with an EGF–like motif expressed by pioneer neurons
Hirotsune, S., Takahara, T., Sasaki, N., Hirose, K., Yoshiki, A., Ohashi, T., Kusakabe, M., Murakami, Y., Muramatsu, M., Watanabe, S., et al. (1995) · Nature Genetics · doi:10.1038/ng0595-77 · Cited by 345 · see citing works
The autistic spectrum
Wing, L. (1997) · The Lancet · doi:10.1016/s0140-6736(97)09218-0 · Cited by 332 · see citing works
Microcephaly and Macrocephaly in Autism
Fombonne, E. J., Rogé, B., Claverie, J., Courty, S., & Fremolle-Kruck, J. (1999) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1023036509476 · Cited by 331 · see citing works
Genetic Studies of Autism: From the 1970s into the Millennium
Rutter, M. L. (2000) · Research on Child and Adolescent Psychopathology · doi:10.1023/a:1005113900068 · Cited by 288 · see citing works
Oculomotor evidence for neocortical systems but not cerebellar dysfunction in autism
Minshew, N. J., Luna, B., & Sweeney, J. A. (1999) · Neurology · doi:10.1212/wnl.52.5.917 · Cited by 267 · see citing works
Defective corticogenesis and reduction in Reelin immunoreactivity in cortex and hippocampus of prenatally infected neonatal mice
Fatemi, S. H., Emamian, E. S., Kist, D. A., Sidwell, R. W., Nakajima, K., Akhter, P., Shier, A. C., Sheikh, S. A., & Bailey, K. W. (1999) · Molecular Psychiatry · doi:10.1038/sj.mp.4000520 · Cited by 261 · see citing works
Events governing organization of postmigratory neurons: Studies on brain development in normal and reeler mice
Goffinet, A. M. (1984) · Brain Research Reviews · doi:10.1016/0165-0173(84)90013-4 · Cited by 248 · see citing works
Microscopic Neuroanatomic Abnormalities in Autism
Bauman, M. L. (1991) · Pediatrics · doi:10.1542/peds.87.5.791 · Cited by 242 · see citing works
Embryonic and Early Fetal Development of the Human Neocortex
Meyer, G., Schaaps, J. P., Moreau, L., & Goffinet, A. M. (2000) · Journal of Neuroscience · doi:10.1523/jneurosci.20-05-01858.2000 · Cited by 215 · see citing works
Genetic Studies of Autistic Disorder and Chromosome 7
Ashley‐Koch, A. E., Wolpert, C. M., Menold, M. M., Zaeem, L., Basu, S., Donnelly, S. L., Ravan, S. A., Powell, C. M., Qumsiyeh, M. Β., Aylsworth, A. S., et al. (1999) · Genomics · doi:10.1006/geno.1999.5968 · Cited by 192 · see citing works
The Neurobiology of Infantile Autism
Ciaranello, A. L., & Ciaranello, R. D. (1995) · Annual Review of Neuroscience · doi:10.1146/annurev.ne.18.030195.000533 · Cited by 184 · see citing works
The Transmission/Disequilibrium Test and Parental-Genotype Reconstruction: The Reconstruction-Combined Transmission/ Disequilibrium Test
Knapp, M. (1999) · The American Journal of Human Genetics · doi:10.1086/302285 · Cited by 165 · see citing works
Autism: recent molecular genetic advances
Lamb, J. A. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.6.861 · Cited by 163 · see citing works
Platelet serotonin, a possible marker for familial autism
Piven, J., Tsai, G. E., Nehme, E., COYLE, J. T., Chase, G. A., & Folstein, S. E. (1991) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02206997 · Cited by 147 · see citing works
The human reelin gene: isolation, sequencing, and mapping on chromosome 7.Preprint
DeSilva, U., D’Arcangelo, G., Braden, V. V., Chen, J., Miao, G. G., Curran, T., & Green, E. D. (1997) · Genome Research · doi:10.1101/gr.7.2.157 · Cited by 144 · see citing works
Genetics of Autism
Cook, E. H. (2001) · Child and Adolescent Psychiatric Clinics of North America · doi:10.1016/s1056-4993(18)30061-0 · Cited by 124 · see citing works
Serotonin and amino acid content in platelets of autistic children
Rolf, L. H., Haarmann, F. Y., Grotemeyer, K. ‐., & Kehrer, H. E. (1993) · Acta Psychiatrica Scandinavica · doi:10.1111/j.1600-0447.1993.tb03378.x · Cited by 113 · see citing works
Alzheimer's Disease
Bothwell, M. A., & Giniger, E. (2000) · Cell · doi:10.1016/s0092-8674(00)00032-5 · Cited by 108 · see citing works
Detection of the reelin breakpoint in reeler mice
D’Arcangelo, G., Miao, G. G., & Curran, T. (1996) · Molecular Brain Research · doi:10.1016/0169-328x(96)00046-0 · Cited by 96 · see citing works
The mouse mutation reeler causes increased adhesion within a subpopulation of early postmitotic cortical neurons
Hoffarth, R., Johnston, J., Krushel, L., & van der Kooy, D. (1995) · Journal of Neuroscience · doi:10.1523/jneurosci.15-07-04838.1995 · Cited by 90 · see citing works
Expression ofMeis2, aKnotted-related murine homeobox gene, indicates a role in the differentiation of the forebrain and the somitic mesoderm
Cecconi, F., Proetzel, G., Álvarez-Bolado, G., Jay, D. B., & Gruß, P. (1997) · Developmental Dynamics · doi:10.1002/(sici)1097-0177(199710)210:2 · Cited by 82 · see citing works
Genomic Organization of the MouseReelinGene
Royaux, I. E., de Rouvroit, C. L., D’Arcangelo, G., Demirov, D. G., & Goffinet, A. M. (1997) · Genomics · doi:10.1006/geno.1997.4983 · Cited by 77 · see citing works
Autism in search of a home in the brain
Rapin, I. (1999) · Neurology · doi:10.1212/wnl.52.5.902 · Cited by 58 · see citing works
Linkage study of two polymorphisms at the dopamine D3 receptor gene and attention-deficit hyperactivity disorder.
Barr, C., Wigg, K., Wu, J., Zai, C., Bloom, S., Tannock, R., Roberts, W., Malone, M., Schachar, R., & Kennedy, J. L. (2000) · American journal of medical genetics · doi:10.1002/(sici)1096-8628(20000207)96:1 · Cited by 53 · see citing works
Testing for linkage of eye tracking dysfunction and schizophrenia to markers on chromosomes 6, 8, 9, 20, and 22 in families multiply affected with schizophrenia
Arolt, V., Lencer, R., Purmann, S., Sch�rmann, M., M�ller-Myhsok, B., Krecker, K., & SCHWINGER, E. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19991215)88:6 · Cited by 46 · see citing works
Development of cholinergic and GABAergic neurons in the rat medial septum: Different onset of choline acetyltransferase and glutamate decarboxylase mRNA expression
Bender, R. A., Plaschke, M., Naumann, T., Wahle, P., & Frotscher, M. (1996) · The Journal of Comparative Neurology · doi:10.1002/(sici)1096-9861(19960819)372:2 · Cited by 36 · see citing works
The Griffiths Mental Developmental Scales:
Jacklin, L., & Cockcroft, K. (2013) · Wits University Press eBooks · doi:10.18772/22013015782.17 · Cited by 26 · see citing works
Development of RNA-SSCP protocols for the identification and screening of CFTR mutations: Identification of two new mutations
Bisceglia, L., Grifa, A., Zelante, L., et al. (1994) · Human Mutation · doi:10.1002/humu.1380040208 · Cited by 24 · see citing works
Self-citation
Cerebellar phenotype of two alleles of the ‘reeler’ mutation on similar backgrounds
Goffinet, A. (1990) · Brain Research · doi:10.1016/0006-8993(90)90102-h · Cited by 11 · see citing works
Untitled work
Jonnal (2000) · doi:10.1002/1096-8628(20001204)96:6
Untitled work
Rodier (1996) · doi:10.1002/(sici)1096-9861(19960624)370:2
Untitled work
(2000) · doi:10.1002/1098-2272(200101)20:1
Untitled work
Burger (1998) · doi:10.1002/(sici)1098-2779(1998)4:2

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Abrahams, B. S., & Geschwind, D. H. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2346 · Cited by 1,866 · see citing works
Autism spectrum disorders: developmental disconnection syndromes
Geschwind, D. H., & Levitt, P. (2007) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2007.01.009 · Cited by 1,411 · see citing works
The genetics of autism
Muhle, R., Trentacoste, S. V., & Rapin, I. (2004) · Pediatrics · doi:10.1542/peds.113.5.e472 · Cited by 1,207 · see citing works
Mouse behavioral tasks relevant to autism: Phenotypes of 10 inbred strains
MOY, S., NADLER, J., YOUNG, N., PEREZ, A., HOLLOWAY, L., BARBARO, R., BARBARO, J., WILSON, L., THREADGILL, D., & LAUDER, J. (2007) · Behavioural Brain Research · doi:10.1016/j.bbr.2006.07.030 · Cited by 776 · see citing works
Genetics of austim: complex aetiology for a heterogeneous disorder
Folstein, S. E., & Rosen-Sheidley, B. (2001) · Nature Reviews Genetics · doi:10.1038/35103559 · Cited by 771 · see citing works
Consensus Paper: Pathological Role of the Cerebellum in Autism
Fatemi, S. H., Aldinger, K. A., Ashwood, P., Bauman, M. L., Blaha, C. D., Blatt, G. J., Chauhan, A., Chauhan, V., Dager, S. R., Dickson, P. E., et al. (2012) · The Cerebellum · doi:10.1007/s12311-012-0355-9 · Cited by 723 · see citing works
Self-citation
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Freitag, C. M. (2007) · Molecular Psychiatry · doi:10.1038/sj.mp.4001896 · Cited by 638 · see citing works
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Volkmar, F. R., Lord, C., Bailey, A., Schultz, R. T., & Klin, A. (2004) · Journal of Child Psychology and Psychiatry · doi:10.1046/j.0021-9630.2003.00317.x · Cited by 616 · see citing works
Searching for ways out of the autism maze: genetic, epigenetic and environmental clues
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Pardo, C. A., & Eberhart, C. G. (2007) · Brain Pathology · doi:10.1111/j.1750-3639.2007.00102.x · Cited by 514 · see citing works
A Genomewide Screen for Autism: Strong Evidence for Linkage to Chromosomes 2q, 7q, and 16p
(2001) · The American Journal of Human Genetics · doi:10.1086/323264 · Cited by 453 · see citing works
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Campbell, D. B., Sutcliffe, J. S., Ebert, P. J., Militerni, R., Bravaccio, C., Trillo, S., Elia, M., Schneider, C., Melmed, R., Sacco, R., et al. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0605296103 · Cited by 401 · see citing works
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Shelton, J. F., Hertz-Picciotto, I., & Pessah, I. N. (2012) · Environmental Health Perspectives · doi:10.1289/ehp.1104553 · Cited by 164 · see citing works
Reelin Is a Serine Protease of the Extracellular Matrix
Quattrocchi, C. C., Wannenes, F., Persico, A. M., Ciafré, S. A., D'Arcangelo, G., Farace, M. G., & Keller, F. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m106996200 · Cited by 154 · see citing works
Self-citation
Autism, Alzheimer disease, and fragile X
Sokol, D. K., Maloney, B., Long, J. M., Ray, B., & Lahiri, D. K. (2011) · Neurology · doi:10.1212/wnl.0b013e3182166dc7 · Cited by 141 · see citing works
Evidence for multiple loci from a genome scan of autism kindreds
Schellenberg, G. D., Dawson, G., Sung, Y. J., Estes, A., Munson, J., Rosenthal, E., Rothstein, J., Flodman, P., Smith, M., Coon, H., et al. (2006) · Molecular Psychiatry · doi:10.1038/sj.mp.4001874 · Cited by 129 · see citing works
Paraoxonase gene variants are associated with autism in North America, but not in Italy: possible regional specificity in gene–environment interactions
D'Amelio, M., Ricci, I., Sacco, R., Liu, X., D'Agruma, L., Muscarella, L. A., Guarnieri, V, Militerni, R., Bravaccio, C., Elia, M., et al. (2005) · Molecular Psychiatry · doi:10.1038/sj.mp.4001714 · Cited by 125 · see citing works
Self-citation
Reduced Blood Levels of Reelin as a Vulnerability Factor in Pathophysiology of Autistic Disorder
Fatemi, S. H., Stary, J. M., & Egan, E. A. (2002) · Cellular and Molecular Neurobiology · doi:10.1023/a:1019857620251 · Cited by 122 · see citing works
Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene
Bacchelli, E., Blasi, F., Biondolillo, M., Lamb, J. A., Bonora, E., Barnby, G., Parr, J., Beyer, K. S., Klauck, S. M., Poustka, A., et al. (2003) · Molecular Psychiatry · doi:10.1038/sj.mp.4001340 · Cited by 117 · see citing works
Canonical and non-canonical Reelin signaling
Bock, H. H., & May, P. (2016) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2016.00166 · Cited by 107 · see citing works
Shared genetic influences between dimensional ASD and ADHD symptoms during child and adolescent development
Stergiakouli, E., Davey Smith, G., Martin, J., Skuse, D. H., Viechtbauer, W., Ring, S. M., Ronald, A., Evans, D. E., Fisher, S. E., Thapar, A., et al. (2017) · Molecular Autism · doi:10.1186/s13229-017-0131-2 · Cited by 97 · see citing works
Reelin-mediated signaling in neuropsychiatric and neurodegenerative diseases
Knuesel, I. (2010) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2010.04.002 · Cited by 89 · see citing works
Methodological factors influencing measurement and processing of plasma reelin in humans
Lugli, G., Krueger, J. M., Davis, J. M., Persico, A. M., Keller, F., & Smalheiser, N. R. (2003) · BMC Biochemistry · doi:10.1186/1471-2091-4-9 · Cited by 60 · see citing works
Self-citation
Autism: the quest for the genes
Sykes, N. H., & Lamb, J. A. (2007) · Expert Reviews in Molecular Medicine · doi:10.1017/s1462399407000452 · Cited by 58 · see citing works
Polymorphic GGC repeat differentially regulates human reelin gene expression levels
Persico, A. M., Levitt, P., & Pimenta, A. F. (2006) · Journal of Neural Transmission · doi:10.1007/s00702-006-0441-6 · Cited by 52 · see citing works
Self-citation
Polymorphisms of candidate genes in Slovak autistic patients
Kelemenova, S., Schmidtova, E., Ficek, A., Celec, P., Kubranska, A., & Ostatnikova, D. (2010) · Psychiatric Genetics · doi:10.1097/ypg.0b013e32833a1eb3 · Cited by 50 · see citing works
Analysis of 9p24 and 11p12-13 regions in autism spectrum disorders: rs1340513 in the JMJD2C gene is associated with ASDs in Finnish sample
Kantojärvi, K., Onkamo, P., Vanhala, R., Alen, R., Hedman, M., Sajantila, A., Nieminen-von Wendt, T., & Järvelä, I. (2010) · Psychiatric Genetics · doi:10.1097/ypg.0b013e32833a2080 · Cited by 40 · see citing works
RELN-expressing neuron density in layer I of the superior temporal lobe is similar in human brains with autism and in age-matched controls
Camacho, J., Ejaz, E., Ariza, J., Noctor, S. C., & Martínez-Cerdeño, V. (2014) · Neuroscience Letters · doi:10.1016/j.neulet.2014.07.031 · Cited by 25 · see citing works

Linkage disequilibrium and haplotypes of the rs1042522, rs1625895, and rs1787862 markers of TP53 in patients with diffuse large B-cell lymphoma
Voropaeva, E. N., Voevoda, M. I., Pospelova, T. I., et al. (2014) · Molecular Biology · doi:10.1134/s0026893314050173 · Cited by 6 · see citing works
[Haplotypes extending across AGT are associated essential hypertension].
Kong, X., Yang, Y., & Zhang, S. (2004) · PubMed · Cited by 6 · see citing works
Genetic variations of HSBP1 gene and its effect on thermal performance traits in Chinese Holstein cattle
Wang, Y., Huang, J., Xia, P., et al. (2013) · Molecular Biology Reports · doi:10.1007/s11033-012-1977-1 · Cited by 26 · see citing works
An additional susceptibility gene for juvenile idiopathic arthritis in the HLA class I region on several DR‐DQ haplotypes
Smerdel, A., Lie, B. A., Finholt, C., et al. (2003) · Tissue Antigens · doi:10.1034/j.1399-0039.2003.610107.x · Cited by 8 · see citing works
Transmission/Disequilibrium Test
Seillier‐Moiseiwitsch, F., & Niu, T. (2014) · Wiley StatsRef: Statistics Reference Online · doi:10.1002/9781118445112.stat07645 · Cited by 4 · see citing works

Authors: Persico, A. M., D'Agruma, L., Maiorano, N., Totaro, A., Militerni, R., Bravaccio, C., Wassink, T. H., Schneider, C., Melmed, R., Trillo, S., Montecchi, F., Palermo, M., Pascucci, T., Puglisi-Allegra, S., Reichelt, K.-L., Conciatori, M., Marino, R., Quattrocchi, C. C., Baldi, A., Zelante, L., Gasparini, P., & Keller, F.
Affiliations: Università Campus Bio-Medico (IT)
Casa Sollievo della Sofferenza (IT)
University of Campania "Luigi Vanvitelli" (IT)
University of Iowa (US)
Southwest Autism Research & Resource Center (US)
Bambino Gesù Children's Hospital (IT)
Sapienza University of Rome (IT)
University of Oslo (NO)
Corresponding author: Keller, F
ORCID: Persico, A M
Totaro, A
Bravaccio, C
Wassink, T H
Schneider, C
Pascucci, T
Quattrocchi, C C
Baldi, A
Gasparini, P
Keller, F
Venue: Molecular Psychiatry
Publisher: Springer Science and Business Media LLC
Published: 2001-03-01
Volume: 6
Issue: 2
Pages: 150-159
ISSN: 1359-4184 (ISSN-L)
1476-5578
DOI: 10.1038/sj.mp.4000850
OpenAlex: W1996775345
Cited by: 337
References: 62
Citations by year: 2025: 1 · 2024: 1 · 2023: 3 · 2022: 8 · 2021: 6 · 2020: 9 · 2019: 7 · 2018: 4 · 2017: 9 · 2016: 12 · 2015: 14 · 2014: 18 · 2013: 15 · 2012: 17
FWCI: 13.64
Type: journal article
Language: en
Open access: green
hdl.handle.net
Licence: cc-by
www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Molecular Psychiatry (publishedVersion)
PubMed (publishedVersion)
ArTS Archivio della ricerca di Trieste (University of Trieste https://www.units.it/) (submittedVersion)
Archivio Istituzionale della Ricerca - Università degli Studi della Campania "Luigi Vanvitelli" (submittedVersion)
IRIS UNIMORE (University of Modena and Reggio Emilia) (submittedVersion, cc-by)
IRIS Research product catalog (Sapienza University of Rome) (submittedVersion)
Iris (University of Trento) (submittedVersion)
Topics: Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords: reelin, RELN gene, autistic disorder, genetic susceptibility, 5' untranslated region, trinucleotide repeats, haplotypes, splice junctions, transmission disequilibrium test, family-based association, neurodevelopmental disorders
MeSH terms: Reelin Protein, Adult, Aged, Aged, 80 and over, Alleles, Autistic Disorder, Brain Chemistry, Exons, Family Health, Female, Genetic Markers, Haplotypes, Humans, Male, Middle Aged, Nerve Tissue Proteins, Risk Factors, Serine Endopeptidases, Serotonin, Skull, Linkage Disequilibrium, Cell Adhesion Molecules, Neuronal, Case-Control Studies, Extracellular Matrix Proteins, Point Mutation, Trinucleotide Repeats, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, RNA Splice Sites

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Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder

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