title: Association between the neurofibromatosis-1 (NF1) locus and autism in the Japanese population.
abstract: Autistic patients have a 100 to 190-fold increased risk of neurofibromatosis compared to the general population. This suggests that the two diseases may share a common etiological background. Recently, a new allele (or the six-repeat allele) of the (AAAT)(n) repeat polymorphism in an Alu sequence in the neurofibromatosis-1 (NF1) gene was observed exclusively in severe autistic patients, not in controls, in Caucasians of French ancestry. This suggests a role of the NF1 gene in the development of autism. We investigated three microsatellite polymorphisms within the intron-27b and intron-38 of the NF1 region, including the (AAAT)(n) and two (CA)n repeat polymorphisms, in Japanese subjects with autism (n = 74) and controls (n = 122). The six-repeat allele of the (AAAT)(n) polymorphism was not found either in patients or controls, possibly indicating an ethnic difference in the polymorphism. However, significant differences were observed in the allele distributions of the (AAAT)(n) and a (CA)(n), which were located at intron-27b, between patients and controls, although an association was not significant between autism and another polymorphism at intron-38. This may suggest an involvement of the NF1 locus in susceptibility to autism, although further investigations are recommended.
authors.affiliation: Department of Psychiatry, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Marui
authors.forename: Ohiko
authors.initials: O
authors.lastname: Hashimoto
authors.forename: Eiji
authors.initials: E
authors.lastname: Nanba
authors.forename: Chieko
authors.initials: C
authors.lastname: Kato
authors.forename: Mamoru
authors.initials: M
authors.lastname: Tochigi
authors.forename: Tadashi
authors.initials: T
authors.lastname: Umekage
authors.forename: Michiko
authors.initials: M
authors.lastname: Ishijima
authors.forename: Kazuhisa
authors.initials: K
authors.lastname: Kohda
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; D020087:Alu Elements / Q000235:genetics; D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D018900:Dinucleotide Repeats / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007564:Japan; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D025542:Neurofibromin 1 / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D025542:Neurofibromin 1