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.
| Original language | English |
|---|---|
| Pages (from-to) | 43-47 |
| Number of pages | 5 |
| Journal | American Journal of Medical Genetics - Neuropsychiatric Genetics |
| Volume | 131 B |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 2004 Nov 15 |
| Externally published | Yes |
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Keywords
- Alu
- Autism
- Genetic association study
- Neurofibromatosis-1
- Tetranucleotide repeat
ASJC Scopus subject areas
- Genetics(clinical)
- Neuropsychology and Physiological Psychology
- Neuroscience(all)
Cite this
Association between the neurofibromatosis-1 (NF1) locus and autism in the Japanese population. / Marui, Tetsuya; Hashimoto, Ohiko; Nanba, Eiji; Kato, Chieko; Tochigi, Mamoru; Umekage, Tadashi; Ishijima, Michiko; Kohda, Kazuhisa; Kato, Nobumasa; Sasaki, Tsukasa.
In: American Journal of Medical Genetics - Neuropsychiatric Genetics, Vol. 131 B, No. 1, 15.11.2004, p. 43-47.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Association between the neurofibromatosis-1 (NF1) locus and autism in the Japanese population
AU - Marui, Tetsuya
AU - Hashimoto, Ohiko
AU - Nanba, Eiji
AU - Kato, Chieko
AU - Tochigi, Mamoru
AU - Umekage, Tadashi
AU - Ishijima, Michiko
AU - Kohda, Kazuhisa
AU - Kato, Nobumasa
AU - Sasaki, Tsukasa
PY - 2004/11/15
Y1 - 2004/11/15
N2 - 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.
AB - 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.
KW - Alu
KW - Autism
KW - Genetic association study
KW - Neurofibromatosis-1
KW - Tetranucleotide repeat
UR - http://www.scopus.com/inward/record.url?scp=7644236041&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=7644236041&partnerID=8YFLogxK
U2 - 10.1002/ajmg.b.20119
DO - 10.1002/ajmg.b.20119
M3 - Article
C2 - 15389774
AN - SCOPUS:7644236041
VL - 131 B
SP - 43
EP - 47
JO - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
JF - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
SN - 1552-4841
IS - 1
ER -