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Journal of Child Neurology, Vol. 16, No. 5, 357-363 (2001)
DOI: 10.1177/088307380101600509

A Study of Novel Polymorphisms in the Upstream Region of Vasoactive Intestinal Peptide Receptor Type 2 Gene in Autism

Eishi Asano, MD

Departments of Pediatrics, Children's Hospital of Michigan and Wayne State University School of Medicine, Department of Neurology, Children's Hospital of Michigan and Wayne State University School of Medicine

Helena Kuivaniemi, MD, PhD

Department of Surgery Wayne State University School of Medicine, Detroit, MI, Center for Molecular Medicine and Genetics Wayne State University School of Medicine, Detroit, MI

A.H.M. Mahbubul Huq, MD, PhD

Departments of Pediatrics, Children's Hospital of Michigan and Wayne State University School of Medicine, Department of Neurology, Children's Hospital of Michigan and Wayne State University School of Medicine

Gerard Tromp, PhD

Center for Molecular Medicine and Genetics Wayne State University School of Medicine, Detroit, MI

Michael Behen, MA

Department of Psychiatry, Children's Hospital of Michigan and Wayne State University School of Medicine

Robert Rothermel, PhD

Department of Psychiatry, Children's Hospital of Michigan and Wayne State University School of Medicine

Joy Herron, RN, BSN

Departments of Pediatrics, Children's Hospital of Michigan and Wayne State University School of Medicine

Diane C. Chugani, PhD

Departments of Pediatrics, Children's Hospital of Michigan and Wayne State University School of Medicine, dchugani{at}pet.wayne.edu, Department of Radiology Children's Hospital of Michigan and Wayne State University School of Medicine

We investigated the vasoactive intestinal peptide receptor type 2 (VIPR2) gene as a candidate gene for autism. We searched for mutations in the VIPR2 gene in autistic individuals, and 10 novel polymorphisms were identified. Three polymorphisms in the upstream region were studied in detail, and there was no significant difference in the frequencies between the autistic group (n = 14) and unrelated controls (n = 52). The distribution of the genotypes in two of the three polymorphisms differed somewhat between autistic subjects with gastrointestinal problems and those without. Moreover, there was a trend showing a correlation between the genotypes for the third polymorphism and the severity of stereotypical behavior as ranked by the Gilliam Autism Rating Scale. These preliminary results suggest that VIPR2 may have a role in gastrointestinal symptoms and stereotypical behaviors in autism, although a larger collection of samples suitable for transmission disequilibrium tests is necessary to validate the results. (J Child Neurol 2001;16:357-363).


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[Abstract] [PDF]