A STUDY OF PONTMUTATION IN THE HUMAN GASTRIN-RELEASING PEPTIDE RECEPTOR GENE AMONG AUTISTIC SUBJECTS.

2001 Fiscal Year Final Research Report Summary

• Project/Area Number: 12670927
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Psychiatric science
• Research Institution: The University of Tokyo
• Principal Investigator: HASIMOTO Ohiko FACULTY OF MEDICINE, The University Tokyo, LECTURER, 医学部・附属病院, 講師 (90292911)
• Co-Investigator(Kenkyū-buntansha): SOMEYA Riichi FACULTY OF MEDICINE, The University Tokyo, ASSISTANT, 医学部・附属病院, 助手 (30301104)
• Project Period (FY): 2000 – 2001
• Keywords: autism / gastrin-releasing peptide receptor(GRPR) / PCR / X-chromosome / ethinic difference / 人種差

Research Abstract

The present study investigated two polymorphic sites (C/450/T and C/661/T) in the second exon of the GRPR gene in Japanese patients with autistic disorder (DSM-IV) and healthy subjects. The two polymorphic sites were at high linkage disequilibrium. C450 appeared to be almost exclusively associated with C661 and T450 with T661, consistent with a previous study in a North American population. The allele frequencies and genotype distributions were not significantly different between the patients and controls. The C45OC661 allele was much less frequent in the Japanese subjects (6-7%) than in the North American (= Californian) subjects (more than 30%), suggesting a large ethnic difference in the GRPR polymorphism. Thus, no evidence for an association between the GRPR gene and autistic disorder was obtained, however, further studies may be recommended to exclude the GRPR locus as a candidate locus, considering the low polymorphism in the present Japanese subjects.