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Transmission disequilibrium testing of arginine vasopressin receptor 1A (AVPR1A) polymorphisms in autism

Molecular Psychiatry volume 7, pages 503–507 (2002)Cite this article

Abstract

Impairment in social reciprocity is a central component of autism. In preclinical studies, arginine vasopressin (AVP) has been shown to increase a range of social behaviors, including affiliation and attachment, via the V1a receptor (AVPR1A) in the brain. Both the behavioral effects of AVP and the neural distribution of the V1a receptor vary greatly across mammalian species. This difference in regional receptor expression as well as differences in social behavior may result from a highly variable repetitive sequence in the 5′ flanking region of the V1a gene (AVPR1A). Given this comparative evidence for a role in inter-species variation in social behavior, we explored whether within our own species, variation in the human AVPR1A may contribute to individual variations in social behavior, with autism representing an extreme form of social impairment. We genotyped two microsatellite polymorphisms from the 5′ flanking region of AVPR1A for 115 autism trios and found nominally significant transmission disequilibrium between autism and one of the microsatellite markers by Multiallelic Transmission/Disequilibrium test (MTDT) that was not significant after Bonferroni correction. We also screened approximately 2 kb of the 5′ flanking region and the coding region and identified 10 single nucleotide polymorphisms.

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Acknowledgements

This work was supported, in part, by NIH grants R01 MH56538 (TI), K02 MH01389 (EHC), R01 MH52223 (EC, EHC), PO1 HD35482 (EHC, CL), NSF grant IBN9876754 (TI), the Jean Young and Walden W Shaw Foundation (BLL), the Harris Foundation (BLL), and the Brain Research Foundation (EHC).

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Author notes

  1. C Lord

    Present address: University of Michigan Autism and Communication Disorders Center, 1111 E Catherine St, Ann Arbor, 48109–2054, MI, USA

Authors and Affiliations

  1. Department of Psychiatry, Laboratory of Developmental Neuroscience, Child and Adolescent Psychiatry, University of Chicago, Chicago, IL, USA

    S-J Kim, D Gonen, J Veenstra-VanderWeele, B L Leventhal & E H Cook Jr

  2. Center for Behavioral Neuroscience, Emory University, Atlanta, GA, USA

    L J Young & T R Insel

  3. Laboratory for Research on the Neuroscience of Autism, Children's Hospital Research Center, La Jolla, CA, USA

    R Courchesne & E Courchesne

  4. Department of Neurosciences, School of Medicine, University of California, San Diego, La Jolla, CA, USA

    E Courchesne

  5. Department of Psychiatry, Developmental Disorders Clinic, Child and Adolescent Psychiatry, University of Chicago, Chicago, IL, USA

    C Lord, B L Leventhal & E H Cook Jr

  6. Department of Pediatrics, University of Chicago, Chicago, IL, USA

    B L Leventhal & E H Cook Jr

Authors
  1. S-J Kim
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  2. L J Young
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  3. D Gonen
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  4. J Veenstra-VanderWeele
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  5. R Courchesne
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  6. E Courchesne
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  7. C Lord
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  8. B L Leventhal
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  9. E H Cook Jr
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  10. T R Insel
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Corresponding author

Correspondence to E H Cook Jr.

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Kim, SJ., Young, L., Gonen, D. et al. Transmission disequilibrium testing of arginine vasopressin receptor 1A (AVPR1A) polymorphisms in autism. Mol Psychiatry 7, 503–507 (2002). https://doi.org/10.1038/sj.mp.4001125

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  • DOI: https://doi.org/10.1038/sj.mp.4001125

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