GeneSet Information

Tier I GS269560 • GWAS Catalog Data for treatment refractory schizophrenia in 522 Han Chinese ancestry cases, 806 Han Chinese ancestry controls

DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Schizophrenia (treatment resistant). The EFO term treatment refractory schizophrenia was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: treatment refractory schizophrenia

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

YJ Liou, HH Wang, MT Lee, SC Wang, HL Chiang, CC Chen, CH Lin, MS Chung, CC Kuo, DL Liao, CK Wu, CM Liu, YL Liu, HG Hwu, IC Lai, SJ Tsai, CH Chen, HF Liu, YC Chou, CH Chen, YT Chen, CJ Hong, JY Wu

TITLE:

Genome-wide association study of treatment refractory schizophrenia in Han Chinese.

JOURNAL:

PloS one None 2012, Vol 7, pp. e33598

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. PUBMED: 22479419
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treatment refractory schizophrenia (EFO:0004609)

Gene List • 3 Genes

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