title: Human Rho guanine nucleotide exchange factor 11 gene is associated with schizophrenia in a Japanese population.
abstract: OBJECTIVE
  The human Rho guanine nucleotide exchange factor 11 (ARHGEF11) gene is one of the candidate genes for type 2 diabetes mellitus (T2DM). ARHGEF11 is mapped to chromosome 1q21, which has susceptible risk loci for T2DM and schizophrenia. We hypothesized that ARHGEF11 contributes to the pathogenesis of schizophrenia.
  
  
  METHODS
  We selected eight single nucleotide polymorphisms of ARHGEF11 that had significant associations with T2DM for a case-control association study of 490 patients with schizophrenia and 500 age-matched and sex-matched controls.
  
  
  RESULTS
  We did not find any differences in allelic, genotypic associations, or minor allele frequencies with schizophrenia. Analysis of the rs6427340-rs6427339 haplotype and the rs822585-rs6427340-rs6427339 haplotype combination provided significant evidence of an association with schizophrenia (global permutations p = 0.00047 and 0.0032, respectively). C-C of the rs6427340-rs6427339 haplotype and A-C-C of the rs822585-rs6427340-rs6427339 haplotype carried higher risk factors for schizophrenia (permutation p = 0.0010 and 0.0018, respectively). A-C-T of the rs822585-rs6427340-rs6427339 haplotype had a possible protective effect (permutation p = 0.031).
  
  
  CONCLUSIONS
  These results provide new evidence that ARHGEF11 may constitute a risk factor for schizophrenia.
authors.affiliation: Department of Neuropsychiatry, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences.
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Mizuki
authors.forename: Manabu
authors.initials: M
authors.lastname: Takaki
authors.forename: Yuko
authors.initials: Y
authors.lastname: Okahisa
authors.forename: Shinji
authors.initials: S
authors.lastname: Sakamoto
authors.forename: Masafumi
authors.initials: M
authors.lastname: Kodama
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Ujike
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Uchitomi
mesh_terms: D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007564:Japan; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D064067:Rho Guanine Nucleotide Exchange Factors / Q000235:genetics*; D012306:Risk; D012559:Schizophrenia / Q000235:genetics*
chemical_list: C577234:ARHGEF11 protein, human; D064067:Rho Guanine Nucleotide Exchange Factors
keywords: ARHGEF11; case-control study; schizophrenia; type 2 diabetes mellitus