title: Tachykinin 1 (TAC1) gene SNPs and haplotypes with autism: a case-control study.
abstract: Autism (MIM 209850) is a severe neurodevelopmental disorder characterized by disturbances in social interaction and communication, by repetitive body movements and restricted interests, and by atypical language development. Several twin and family studies have shown strong evidence for genetic factors in the etiology of autism. Glutamate is a major excitatory neurotransmitter in the human brain. Glutamate systems are involved in the pathophysiology of autism. There are many similarities between the symptoms evoked by glutamate antagonist treatment and symptoms of autism found in several human and animal studies. To elucidate the genetic background of autism, we analyzed the relationship between three single nucleotide polymorphisms (SNPs) of the Tachykinin 1 gene (TAC1) and autism, because TAC1 is located in the candidate region for autism and produces substance P and neurokinins. These products modulate glutamatergic excitatory synaptic transmission and are also involved in inflammation. Many different inflammation-related mechanisms could be involved in the autistic brain. Therefore, TAC1 may have some functions associated with the presumable pathophysiology of autism. We compared the allele and haplotype frequencies between autistic patients (n=170) and normal controls (n=214) in the Japanese population, but no significant difference was observed. Thus, the TAC1 locus is not likely to play a major role in the development of autism.
authors: Department of Neuropsychiatry, Graduate School of Medicine, University of Tokyo, Tokyo, Japan. PXX03135@nifty.ne.jp
authors: Tetsuya
authors: T
authors: Marui
authors: Ikuko
authors: I
authors: Funatogawa
authors: Shinko
authors: S
authors: Koishi
authors: Kenji
authors: K
authors: Yamamoto
authors: Hideo
authors: H
authors: Matsumoto
authors: Ohiko
authors: O
authors: Hashimoto
authors: Eiji
authors: E
authors: Nanba
authors: Hisami
authors: H
authors: Nishida
authors: Toshiro
authors: T
authors: Sugiyama
authors: Kiyoto
authors: K
authors: Kasai
authors: Keiichiro
authors: K
authors: Watanabe
authors: Yukiko
authors: Y
authors: Kano
authors: Nobumasa
authors: N
authors: Kato
authors: Tsukasa
authors: T
authors: Sasaki
mesh_terms: D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D015320:Tachykinins / Q000235:genetics*
chemical_list: D015320:Tachykinins