|Title:||Genome-wide association study of treatment refractory schizophrenia in han Chinese||Authors:||Liou Y.-J.
|Issue Date:||2012||Journal Volume:||7||Journal Issue:||3||Start page/Pages:||e33598||Source:||PLoS ONE||Abstract:||
We report the first genome-wide association study of a joint analysis using 795 Han Chinese individuals with treatment-refractory schizophrenia (TRS) and 806 controls. Three loci showed suggestive significant association with TRS were identified. These loci include: rs10218843 (P = 3.04×10 -7) and rs11265461 (P = 1.94×10 -7) are adjacent to signaling lymphocytic activation molecule family member 1 (SLAMF1); rs4699030 (P = 1.94×10 -6) and rs230529 (P = 1.74×10 -7) are located in the gene nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1); and rs13049286 (P = 3.05×10 -5) and rs3827219 (P = 1.66×10 -5) fall in receptor-interacting serine/threonine-protein kinase 4 (RIPK4). One isolated single nucleotide polymorphism (SNP), rs739617 (P = 3.87×10 -5) was also identified to be associated with TRS. The -94delATTG allele (rs28362691) located in the promoter region of NFKB1 was identified by resequencing and was found to associate with TRS (P = 4.85×10 -6). The promoter assay demonstrated that the -94delATTG allele had a significant lower promoter activity than the -94insATTG allele in the SH-SY5Y cells. This study suggests that rs28362691 in NFKB1 might be involved in the development of TRS. ? 2012 Liou et al.
|ISSN:||19326203||DOI:||10.1371/journal.pone.0033598||SDG/Keyword:||amisulpride; chlorpromazine; clozapine; olanzapine; quetiapine; risperidone; signaling lymphocyte activation molecule associated protein; ziprasidone; zotepine; immunoglobulin enhancer binding protein; NFKB1 protein, human; adult; allele; article; Chinese; controlled study; disease course; female; gene; gene activity; gene function; gene location; gene locus; gene sequence; genetic analysis; genetic association; genetic variability; human; major clinical study; male; molecular dynamics; Nfkb1 gene; population research; promoter region; RIPK4 gene; schizophrenia; signal transduction; single nucleotide polymorphism; SLAMF1 gene; treatment refractory schizophrenia; treatment response; aged; Asian; cell line; gene linkage disequilibrium; genetic association; genetics; metabolism; middle aged; schizophrenia; Taiwan; Adult; Aged; Asian Continental Ancestry Group; Cell Line; Female; Genome-Wide Association Study; Humans; Linkage Disequilibrium; Male; Middle Aged; NF-kappa B p50 Subunit; Polymorphism, Single Nucleotide; Schizophrenia; Taiwan
|Appears in Collections:||醫學院附設醫院 (臺大醫院)|
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