1Am. J. Med. Genet. B Neuropsychiatr. Genet. 2013 Oct 162B: 679-86
PMID24132900
TitleGenome-wide association study of atypical psychosis.
AbstractAtypical psychosis with a periodic course of exacerbation and features of major psychiatric disorders [schizophrenia (SZ) and bipolar disorder (BD)] has a long history in clinical psychiatry in Japan. Based upon the new criteria of atypical psychosis, a Genome-Wide Association Study (GWAS) was conducted to identify the risk gene or variants. The relationships between atypical psychosis, SZ and BD were then assessed using independent GWAS data. Forty-seven patients with solid criteria of atypical psychosis and 882 normal controls (NCs) were scanned using an Affymetrics 6.0 chip. GWAS SZ data (560 SZ cases and 548 NCs) and GWAS BD (107 cases with BD type 1 and 107 NCs) were compared using gene-based analysis. The most significant SNPs were detected around the CHN2/CPVL genes (rs245914, P?=?1.6?×?10(-7)) , COL21A1 gene (rs12196860, P?=?2.45?×?10(-7) ), and PYGL/TRIM9 genes (rs1959536, P?=?7.73?×?10(-7) ), although none of the single-nucleotide polymorphisms exhibited genome-wide significance (P?=?5?×?10(-8) ). One of the highest peaks was detected on the major histocompatibility complex region, where large SZ GWASs have previously disclosed an association. The gene-based analysis suggested significant enrichment between SZ and atypical psychosis (P?=?0.01), but not BD. This study provides clues about the types of patient whose diagnosis lies between SZ and BD. Studies with larger samples are required to determine the causal variant.
SCZ Keywordsschizophrenia
2Genetika 2015 Feb 51: 227-35
PMID25966588
Title[Replicative study of susceptibility to childhood-onset schizophrenia in Kazakhs].
AbstractThis paper reports the results of replicative analysis of associations of 15 SNPs in a region of 14 genes previously identified in genome-wide association studies (GWAS) with early-onset schizophrenia in Kazakhs. An association of early-onset schizophrenia with genetic markers in three genes (VRK2, KCNB2, and CPVL) was found. An association of rs2312147 in the VRK2 gene with schizophrenia was also previously reported in the Chinese population, so this marker may be considered as possibly race-specific. Two groups consisting of four and six genes demonstrating intergenic epistatic interactions were revealed by multifactor dimensionality reduction methods. The gene ontologies of 14 studied genes were reduced to variants of one molecular function (peptidase activity) and one biological process (positive regulation of biosynthesis processes). Bioinformatic analysis of the protein-protein interactions of products of the genes under study demonstrates that the products of six out of 14 genes may be involved in a single interrelated network, the major connecting link of which is represented by their ubiquitination by the UBC protein.
SCZ Keywordsschizophrenia