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TY - JOUR AU - Kim, S-J AU - Young, L J AU - Gonen, D. AU - Veenstra-VanderWeele, J. AU - Courchesne, R. AU - Courchesne, E. AU - Lord, C. AU - Leventhal, B L AU - Cook Jr, E H AU - Insel, T R PY - 2002 DA - 2002/06/01 TI - Transmission disequilibrium testing of arginine vasopressin receptor 1A (AVPR1A) polymorphisms in autism JO - Molecular Psychiatry SP - 503 EP - 507 VL - 7 IS - 5 AB - 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. SN - 1476-5578 UR - https://doi.org/10.1038/sj.mp.4001125 DO - 10.1038/sj.mp.4001125 ID - Kim2002 ER -