title: No association between the neuronal pentraxin II gene polymorphism and autism.
abstract: Autism (MIM 209850) is a neurodevelopmental disorder characterized by difficulties with verbal and non-verbal communication, impairments in reciprocal social interactions, and displays of stereotypic behaviors, interests and activities. Twin and family studies have indicated a robust role of genetic factors in the development of autism. Neuronal Pentraxin II (NPTX2) is located in chromosome 7q21.3-q22.1, where it is a candidate region for autism. NPTX2 promotes neuritic outgrowth and is suggested to mediate uptake of degraded synaptic material during synapse formation and remodeling. NPTX2 is also associated with the clustering of synaptic AMPA receptors. It was reported that glutamate systems including AMPA receptor was associated to the pathophysiology of autism. Thus, the NPTX2 gene is involved in neuritic outgrowth, synapse remodeling and the aggregation of neurotransmitter receptors at synapses. These functions play an important role in the mechanisms of learning and brain development. In the present study, we tested for the presence of the association of four single nucleotide polymorphisms (SNPs) of NPTX2 and haplotypes consisting of the SNPs with autism, between autistic patients (n=170) and normal controls (n=214) in a Japanese population. No significant difference was observed in the allele, genotype or haplotype frequencies between the patients and controls. Thus, the NPTX2 locus is not likely to play a major role in the development of autism. However, further studies with larger sample size and sequencing of NPTX2 gene are needed to exclude a role of NPTX2 gene in autism.
authors.affiliation: Department of Neuropsychiatry, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo, Tokyo 113, Japan. PXX03135@nify.ne.jp
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Marui
authors.forename: Shinko
authors.initials: S
authors.lastname: Koishi
authors.forename: Ikuko
authors.initials: I
authors.lastname: Funatogawa
authors.forename: Kenji
authors.initials: K
authors.lastname: Yamamoto
authors.forename: Hideo
authors.initials: H
authors.lastname: Matsumoto
authors.forename: Ohiko
authors.initials: O
authors.lastname: Hashimoto
authors.forename: Michiko
authors.initials: M
authors.lastname: Ishijima
authors.forename: Eiji
authors.initials: E
authors.lastname: Nanba
authors.forename: Hisami
authors.initials: H
authors.lastname: Nishida
authors.forename: Toshiro
authors.initials: T
authors.lastname: Sugiyama
authors.forename: Kiyoto
authors.initials: K
authors.lastname: Kasai
authors.forename: Keiichiro
authors.initials: K
authors.lastname: Watanabe
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Kano
authors.forename: Nobumasa
authors.initials: N
authors.lastname: Kato
authors.forename: Tsukasa
authors.initials: T
authors.lastname: Sasaki
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D001321:Autistic Disorder / Q000235:genetics*; D002097:C-Reactive Protein / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D000099153:Pentraxins
chemical_list: D002097:C-Reactive Protein; D009419:Nerve Tissue Proteins; D000099153:Pentraxins