Association between the neurofibromatosis-1 (NF1) locus and autism in the Japanese population.
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.
Marui
Tetsuya
T
Department of Psychiatry, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
Hashimoto
Ohiko
O
Nanba
Eiji
E
Kato
Chieko
C
Tochigi
Mamoru
M
Umekage
Tadashi
T
Ishijima
Michiko
M
Kohda
Kazuhisa
K
Kato
Nobumasa
N
Sasaki
Tsukasa
T
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
D025542:Neurofibromin 1