Del/ins polymorphism in DGCR6 gene in chromosome 22 and schizophrenia

H. Ujike, Y. Takehisa, Manabu Takaki, Y. Fujiwara, M. Kodama, T. Takeda, S. Kuroda

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

The chromosome 22q11 region is a focus for loci of schizophrenia, because DiGeorge syndrome caused by deletion of this region can be accompanied by a schizophrenic psychosis, which was designated as 22q11 deletion syndrome-schizophrenia. We examined the DGCR6 gene, an potential adhesion receptor protein gene and involved in migration of neural crest cells, located in the critical region. BLAST search revealed that DGCR6 consists of at least 5 exons and 4 introns. We found a novel polymorphism 9-bp del/ins in intron 1 at 7 bp from end of exon 1. Allele frequency of Ins and Del alleles were 93.1 % and 6.9 % in normal Japanese (N=102), respectively. Schizophrenic patients (N=116) showed higher frequency of Del allele as 10. 3 %, but it was not significant. As to subcategory, hebephrenic type of schizophrenia (N=39) showed a significantly higher frequency of the Del allele as 15.4 % (p=0.027). The patients with family history, although only 19, showed significantly and the highest frequency of the Del allele as 18.4 %. The present study found the first evidence of an association between schizophrenia and the DGCR6 gene.

Original languageEnglish
Pages (from-to)532-533
Number of pages2
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume96
Issue number4
Publication statusPublished - Aug 7 2000

Fingerprint

Chromosomes, Human, Pair 22
Gene Frequency
Schizophrenia
Introns
Genes
Disorganized Schizophrenia
Exons
22q11 Deletion Syndrome
DiGeorge Syndrome
Neural Crest
Psychotic Disorders
Chromosomes
Alleles
Proteins

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)

Cite this

Ujike, H., Takehisa, Y., Takaki, M., Fujiwara, Y., Kodama, M., Takeda, T., & Kuroda, S. (2000). Del/ins polymorphism in DGCR6 gene in chromosome 22 and schizophrenia. American Journal of Medical Genetics - Neuropsychiatric Genetics, 96(4), 532-533.

Del/ins polymorphism in DGCR6 gene in chromosome 22 and schizophrenia. / Ujike, H.; Takehisa, Y.; Takaki, Manabu; Fujiwara, Y.; Kodama, M.; Takeda, T.; Kuroda, S.

In: American Journal of Medical Genetics - Neuropsychiatric Genetics, Vol. 96, No. 4, 07.08.2000, p. 532-533.

Research output: Contribution to journalArticle

Ujike, H, Takehisa, Y, Takaki, M, Fujiwara, Y, Kodama, M, Takeda, T & Kuroda, S 2000, 'Del/ins polymorphism in DGCR6 gene in chromosome 22 and schizophrenia', American Journal of Medical Genetics - Neuropsychiatric Genetics, vol. 96, no. 4, pp. 532-533.
Ujike, H. ; Takehisa, Y. ; Takaki, Manabu ; Fujiwara, Y. ; Kodama, M. ; Takeda, T. ; Kuroda, S. / Del/ins polymorphism in DGCR6 gene in chromosome 22 and schizophrenia. In: American Journal of Medical Genetics - Neuropsychiatric Genetics. 2000 ; Vol. 96, No. 4. pp. 532-533.
@article{3c420a9b67594d8e9e87b0006e59e675,
title = "Del/ins polymorphism in DGCR6 gene in chromosome 22 and schizophrenia",
abstract = "The chromosome 22q11 region is a focus for loci of schizophrenia, because DiGeorge syndrome caused by deletion of this region can be accompanied by a schizophrenic psychosis, which was designated as 22q11 deletion syndrome-schizophrenia. We examined the DGCR6 gene, an potential adhesion receptor protein gene and involved in migration of neural crest cells, located in the critical region. BLAST search revealed that DGCR6 consists of at least 5 exons and 4 introns. We found a novel polymorphism 9-bp del/ins in intron 1 at 7 bp from end of exon 1. Allele frequency of Ins and Del alleles were 93.1 {\%} and 6.9 {\%} in normal Japanese (N=102), respectively. Schizophrenic patients (N=116) showed higher frequency of Del allele as 10. 3 {\%}, but it was not significant. As to subcategory, hebephrenic type of schizophrenia (N=39) showed a significantly higher frequency of the Del allele as 15.4 {\%} (p=0.027). The patients with family history, although only 19, showed significantly and the highest frequency of the Del allele as 18.4 {\%}. The present study found the first evidence of an association between schizophrenia and the DGCR6 gene.",
author = "H. Ujike and Y. Takehisa and Manabu Takaki and Y. Fujiwara and M. Kodama and T. Takeda and S. Kuroda",
year = "2000",
month = "8",
day = "7",
language = "English",
volume = "96",
pages = "532--533",
journal = "American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics",
issn = "1552-4841",
publisher = "Wiley-Liss Inc.",
number = "4",

}

TY - JOUR

T1 - Del/ins polymorphism in DGCR6 gene in chromosome 22 and schizophrenia

AU - Ujike, H.

AU - Takehisa, Y.

AU - Takaki, Manabu

AU - Fujiwara, Y.

AU - Kodama, M.

AU - Takeda, T.

AU - Kuroda, S.

PY - 2000/8/7

Y1 - 2000/8/7

N2 - The chromosome 22q11 region is a focus for loci of schizophrenia, because DiGeorge syndrome caused by deletion of this region can be accompanied by a schizophrenic psychosis, which was designated as 22q11 deletion syndrome-schizophrenia. We examined the DGCR6 gene, an potential adhesion receptor protein gene and involved in migration of neural crest cells, located in the critical region. BLAST search revealed that DGCR6 consists of at least 5 exons and 4 introns. We found a novel polymorphism 9-bp del/ins in intron 1 at 7 bp from end of exon 1. Allele frequency of Ins and Del alleles were 93.1 % and 6.9 % in normal Japanese (N=102), respectively. Schizophrenic patients (N=116) showed higher frequency of Del allele as 10. 3 %, but it was not significant. As to subcategory, hebephrenic type of schizophrenia (N=39) showed a significantly higher frequency of the Del allele as 15.4 % (p=0.027). The patients with family history, although only 19, showed significantly and the highest frequency of the Del allele as 18.4 %. The present study found the first evidence of an association between schizophrenia and the DGCR6 gene.

AB - The chromosome 22q11 region is a focus for loci of schizophrenia, because DiGeorge syndrome caused by deletion of this region can be accompanied by a schizophrenic psychosis, which was designated as 22q11 deletion syndrome-schizophrenia. We examined the DGCR6 gene, an potential adhesion receptor protein gene and involved in migration of neural crest cells, located in the critical region. BLAST search revealed that DGCR6 consists of at least 5 exons and 4 introns. We found a novel polymorphism 9-bp del/ins in intron 1 at 7 bp from end of exon 1. Allele frequency of Ins and Del alleles were 93.1 % and 6.9 % in normal Japanese (N=102), respectively. Schizophrenic patients (N=116) showed higher frequency of Del allele as 10. 3 %, but it was not significant. As to subcategory, hebephrenic type of schizophrenia (N=39) showed a significantly higher frequency of the Del allele as 15.4 % (p=0.027). The patients with family history, although only 19, showed significantly and the highest frequency of the Del allele as 18.4 %. The present study found the first evidence of an association between schizophrenia and the DGCR6 gene.

UR - http://www.scopus.com/inward/record.url?scp=0012412897&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0012412897&partnerID=8YFLogxK

M3 - Article

AN - SCOPUS:0012412897

VL - 96

SP - 532

EP - 533

JO - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

JF - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

SN - 1552-4841

IS - 4

ER -