Cited by 350Autism Spectrum Disorder ResearchNeuroendocrine regulation and behaviorGenetics and Neurodevelopmental Disorders

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Association between the oxytocin receptor (OXTR) gene and autism: relationship to Vineland Adaptive Behavior Scales and cognition

Lerer, E, Levi, S, Salomon, S, Darvasi, A, Yirmiya, N, Ebstein, R P·2008·Molecular Psychiatry

DOI 10.1038/sj.mp.4002087

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Abstract

Evidence both from animal and human studies suggests that common polymorphisms in the oxytocin receptor (OXTR) gene are likely candidates to confer risk for autism spectrum disorders (ASD). In lower mammals, oxytocin is important in a wide range of social behaviors, and recent human studies have shown that administration of oxytocin modulates behavior in both clinical and non-clinical groups. Additionally, two linkage studies and two recent association investigations also underscore a possible role for the OXTR gene in predisposing to ASD. We undertook a comprehensive study of all 18 tagged SNPs across the entire OXTR gene region identified using HapMap data and the Haploview algorithm. Altogether 152 subjects diagnosed with ASDs (that is, DSM IV autistic disorder or pervasive developmental disorder--NOS) from 133 families were genotyped (parents and affected siblings). Both individual SNPs and haplotypes were tested for association using family-based association tests as provided in the UNPHASED set of programs. Significant association with single SNPs and haplotypes (global P-values <0.05, following permutation test adjustment) were observed with ASD. Association was also observed with IQ and the Vineland Adaptive Behavior Scales (VABS). In particular, a five-locus haplotype block (rs237897-rs13316193-rs237889-rs2254298-rs2268494) was significantly associated with ASD (nominal global P=0.000019; adjusted global P=0.009) and a single haplotype (carried by 7% of the population) within that block showed highly significant association (P=0.00005). This is the third association study, in a third ethnic group, showing that SNPs and haplotypes in the OXTR gene confer risk for ASD. The current investigation also shows association with IQ and total VABS scores (as well as the communication, daily living skills and socialization subdomains), suggesting that this gene shapes both cognition and daily living skills that may cross diagnostic boundaries.

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Haploview: analysis and visualization of LD and haplotype maps
Barrett, J. C., Fry, B., Maller, J., & Daly, M. J. (2004) · Bioinformatics · doi:10.1093/bioinformatics/bth457 · Cited by 14,551
Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders
Lord, C., Rutter, M., & Le Couteur, A. (1994) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02172145 · Cited by 9,065
The Autism Diagnostic Observation Schedule—Generic: A Standard Measure of Social and Communication Deficits Associated with the Spectrum of Autism
Lord, C., Risi, S., Lambrecht, L., Cook, E. H., Leventhal, B. L., DiLavore, P. C., Pickles, A., & Rutter, M. (2000) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1005592401947 · Cited by 7,520
The “Reading the Mind in the Eyes” Test Revised Version: A Study with Normal Adults, and Adults with Asperger Syndrome or High‐functioning Autism
Baron‐Cohen, S., Wheelwright, S., Hill, J., Raste, Y., & Plumb, I. (2001) · Journal of Child Psychology and Psychiatry · doi:10.1111/1469-7610.00715 · Cited by 4,555
The "Reading the Mind in the Eyes" Test revised version: a study with normal adults, and adults with Asperger syndrome or high-functioning autism.
Baron‐Cohen, S., Wheelwright, S. J., Hill, J., Raste, Y., & Plumb, I. (2001) · PubMed · Cited by 4,313
Bayley Scales of Infant Development
(2007) · Sage eBooks · doi:10.4135/9781412952644.n48 · Cited by 4,242
Oxytocin increases trust in humans
Kosfeld, M., Heinrichs, M., Zak, P. J., Fischbacher, U., & Fehr, E. (2005) · Nature · doi:10.1038/nature03701 · Cited by 3,690
The oxytocin receptor system: structure, function, and regulation
Gimpl, G., & Fahrenholz, F. (2001) · Physiological Reviews · doi:10.1152/physrev.2001.81.2.629 · Cited by 3,089
Mullen Scales of Early Learning
Bradley‐Johnson, S. (1997) · Psychology in the Schools · doi:10.1002/(sici)1520-6807(199710)34:4 · Cited by 2,329
Social support and oxytocin interact to suppress cortisol and subjective responses to psychosocial stress
Heinrichs, M., Baumgartner, T., Kirschbaum, C., & Ehlert, U. (2003) · Biological Psychiatry · doi:10.1016/s0006-3223(03)00465-7 · Cited by 2,091

Flagged first, then by citations

Show all 54 references

Research works printed but not linked: 6

Acher R . Chemistry of the neurohypophysial hormones: an example of molecular evolution. In: Knobil E, Sawyer W (eds). Handbook of Physiology, vol. 4. American Physiological Society: Washington, DC, 1974, pp 119–130.
Sparrow SS, Balla DA, Cicchetti D . Vineland Adaptive Behavior Scales, Interview Edition. American Guidance Service: Circle Pines, MN, 1984.
Wechsler D, Psychological Corporation. WISC-II. [kit] Wechsler Intelligence Scale for Children, 3rd edn. Psychological Corporation Harcourt Brace Jovanovich: San Antonio, TX, 1991.
Stutsman R . Manual for the Merrill–Palmer Scale of Mental Tests. Western Psychological Services: Los Angeles, CA, 1948.
Roid GH, Miller LJ, Lieter RG . Leiter International Performance Scale—Revised: Examiners Manual. Stoelting: Wood Dale, IL (620 Wheat Ln., Wood Dale 60191), 1997 xiii, 1 v. (various pagings).
Thorndike RL, Hagen EP, Sattler JM . The Stanford–Binet Intelligence Scale, Fourth Edition: Guide for Administering and Scoring. Riverside Pub. Co: Chicago, IL. (8420 Bryn Mawr Avenue, Chicago 60631), 1986 192pp.

Sorted by citations

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Coury, D. (2010) · Current Opinion in Neurology · doi:10.1097/wco.0b013e32833722fa · Cited by 87
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Self-citation
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Self-citation
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Self-citation
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Johansson, A., Bergman, H., Corander, J., Waldman, I. D., Karrani, N., Salo, B., Jern, P., Ålgars, M., Sandnabba, K. N., Santtila, P. O., et al. (2011) · Genes Brain & Behavior · doi:10.1111/j.1601-183x.2011.00744.x · Cited by 59
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DeMayo, M. M., Young, L. J., Hickie, I. B., Song, Y. J. C., & Guastella, A. J. (2019) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2019.09.034 · Cited by 52
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Damiano, C. R., Aloi, J. M., Dunlap, K., Burrus, C. J., Mosner, M. G., Kozink, R. V., McLaurin, R. E., Mullette-Gillman, O. A., Carter, R., Huettel, S. A., et al. (2014) · Molecular Autism · doi:10.1186/2040-2392-5-7 · Cited by 56
Autism: Oxytocin, serotonin, and social reward
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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
Oxytocin receptor gene (OXTR) polymorphisms and social, emotional and behavioral functioning in children and adolescents: A systematic narrative review
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Uzefovsky, F., Bethlehem, R. A. I., Shamay-Tsoory, S., Ruigrok, A., Holt, R., Spencer, M., Chura, L., Warrier, V., Chakrabarti, B., Bullmore, E., et al. (2019) · Molecular Autism · doi:10.1186/s13229-019-0258-4 · Cited by 49
The Contribution of Oxytocin and Vasopressin to Mammalian Social Behavior: Potential Role in Autism Spectrum Disorder
Harony, H., & Wagner, S. (2010) · Neurosignals · doi:10.1159/000321035 · Cited by 62
Beta-carotene as a novel therapy for the treatment of “Autistic like behavior” in animal models of Autism
Avraham, Y., Berry, E. M., Donskoy, M., Ahmad, W. A., Vorobiev, L., Albeck, A., & Mankuta, D. (2017) · Behavioural Brain Research · doi:10.1016/j.bbr.2017.09.041 · Cited by 48
Association of MET with social and communication phenotypes in individuals with autism spectrum disorder
Campbell, D. B., Warren, D. E., Sutcliffe, J. S., Lee, E. B., & Levitt, P. R. (2009) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30998 · Cited by 49
Perinatal oxytocin increases the risk of offspring bipolar disorder and childhood cognitive impairment
Freedman, D., Brown, A. S., Shen, L., & Schaefer, C. A. (2014) · Journal of Affective Disorders · doi:10.1016/j.jad.2014.10.052 · Cited by 49
D-cycloserine facilitates socially reinforced learning in an animal model relevant to autism spectrum disorders
Modi, M. E., & Young, L. J. (2011) · Biological Psychiatry · doi:10.1016/j.biopsych.2011.01.026 · Cited by 47
Research Progress in Vitamin A and Autism Spectrum Disorder
Liu, Z., Wang, J., Xu, Q., Hong, Q., Zhu, J., & Chi, X. (2021) · Behavioural Neurology · doi:10.1155/2021/5417497 · Cited by 49
Association between the oxytocin receptor ( OXTR ) gene and children's social cognition at 18 months
Wade, M., Hoffmann, T. J., Wigg, K., & Jenkins, J. M. (2014) · Genes Brain & Behavior · doi:10.1111/gbb.12148 · Cited by 55
Meta‐analysis and association of two common polymorphisms of the human oxytocin receptor gene in autism spectrum disorder
Kranz, T. M., Kopp, M., Waltes, R., Sachse, M., Duketis, E., Jarczok, T. A., Degenhardt, F., Görgen, K., Meyer, J., Freitag, C. M., et al. (2016) · Autism Research · doi:10.1002/aur.1597 · Cited by 47
Theory of mind and the social brain: implications for understanding the genetic basis of schizophrenia
Martin, A. K., Robinson, G. A., Dzafic, I., Reutens, D. C., & Mowry, B. J. (2013) · Genes Brain & Behavior · doi:10.1111/gbb.12066 · Cited by 52
Antisocial behavior and polymorphisms in the oxytocin receptor gene: findings in two independent samples
Hovey, D., Lindstedt, M., Zettergren, A., Jönsson, L., Johansson, A., Melke, J., Kerekes, N., Anckarsäter, H. S., Lichtenstein, P., Lundström, S., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2015.144 · Cited by 47
Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders
Baribeau, D. A., Dupuis, A., Paton, T., Scherer, S. W., Schachar, R. J., Arnold, P. D., Szatmári, P., Nicolson, R., Georgiades, S., Crosbie, J., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-10821-0 · Cited by 51
Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3‐p26.1
Gunnarsson, C., & Bruun, C. F. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33353 · Cited by 44
Additive effects of oxytocin receptor gene polymorphisms on reward circuitry in youth with autism
Hernandez, L. M., Krasileva, K., Green, S. A., Sherman, L. E., Ponting, C., McCarron, R., Lowe, J. K., Geschwind, D. H., Bookheimer, S. Y., & Dapretto, M. (2017) · Molecular Psychiatry · doi:10.1038/mp.2016.209 · Cited by 43
Oxytocin and parent–child interaction in the development of empathy among children at risk for autism.
McDonald, N. M., Baker, J. K., & Messinger, D. S. (2016) · Developmental Psychology · doi:10.1037/dev0000104 · Cited by 43
A review of gene–environment correlations and their implications for autism: A conceptual model.
Meek, S. E., Lemery‐Chalfant, K., Jahromi, L. B., & Valiente, C. (2013) · Psychological Review · doi:10.1037/a0033139 · Cited by 43
Associations between oxytocin receptor genotypes and social cognitive performance in individuals with schizophrenia
Davis, M. C., Horan, W. P., Nurmi, E. L., Rizzo, S., Li, W. W., Sugar, C. A., & Green, M. F. (2014) · Schizophrenia Research · doi:10.1016/j.schres.2014.09.006 · Cited by 41
Oxytocin depolarizes fast-spiking hilar interneurons and induces GABA release onto mossy cells of the rat dentate gyrus
Harden, S. W., & Frazier, C. J. (2016) · Hippocampus · doi:10.1002/hipo.22595 · Cited by 44
Serum Oxytocin Levels and an Oxytocin Receptor Gene Polymorphism (rs2254298) Indicate Social Deficits in Children and Adolescents with Autism Spectrum Disorders
Yang, S., Dong, X., Guo, X., Han, Y., Song, H., Gao, L., Dai, W., Su, Y., & Zhang, X. (2017) · Frontiers in Neuroscience · doi:10.3389/fnins.2017.00221 · Cited by 42
Non-synonymous single-nucleotide variations of the human oxytocin receptor gene and autism spectrum disorders: a case–control study in a Japanese population and functional analysis
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Authors: Lerer, E., Levi, S., Salomon, S., Darvasi, A., Yirmiya, N., & Ebstein, R. P.
Affiliations: Hebrew University of Jerusalem (IL)
Corresponding author: Ebstein, R P
ORCID: Ebstein, R P
Venue: Molecular Psychiatry
Publisher: Springer Science and Business Media LLC
Published: 2007-09-25
Volume: 13
Issue: 10
Pages: 980-988
ISSN: 1359-4184 (ISSN-L)
1476-5578
DOI: 10.1038/sj.mp.4002087
OpenAlex: W2027676008
Cited by: 349
References: 54
Citations by year: 2026: 3 · 2025: 4 · 2024: 4 · 2023: 10 · 2022: 11 · 2021: 10 · 2020: 9 · 2019: 9 · 2018: 13 · 2017: 19 · 2016: 28 · 2015: 31 · 2014: 29 · 2013: 39 · 2012: 36
FWCI: 9.69
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Molecular Psychiatry (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Neuroendocrine regulation and behavior
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords: oxytocin receptor gene, oxytocin receptor, autism spectrum disorder, single nucleotide polymorphisms, haplotypes, genetic association, family-based association, IQ, adaptive behavior, Vineland Adaptive Behavior Scales, pervasive developmental disorders, autism risk genes
MeSH terms: Activities of Daily Living, Adaptation, Psychological, Adolescent, Adult, Autistic Disorder, Child, Child, Preschool, Female, Gene Frequency, Genotype, Humans, Infant, Intelligence, Male, Receptors, Oxytocin, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Young Adult

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Association between the oxytocin receptor (OXTR) gene and autism: relationship to Vineland Adaptive Behavior Scales and cognition

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