TY - JOUR
T1 - A study of novel polymorphisms in the upstream region of vasoactive intestinal peptide receptor type 2 gene in austism
AU - Asano, E.
AU - Kuivaniemi, H.
AU - Mahbubul Huq, A. H.M.
AU - Tromp, G.
AU - Behen, M.
AU - Rothermel, R.
AU - Herron, J.
AU - Chugani, D. C.
PY - 2001
Y1 - 2001
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0034969851&partnerID=8YFLogxK
U2 - 10.1177/088307380101600509
DO - 10.1177/088307380101600509
M3 - Article
C2 - 11392521
AN - SCOPUS:0034969851
SN - 0883-0738
VL - 16
SP - 357
EP - 363
JO - Journal of Child Neurology
JF - Journal of Child Neurology
IS - 5
ER -