Genome-Wide Association Study of Treatment Refractory Schizophrenia in Han Chinese

Ying-Jay Liou, Hui-Hung Wang, Ming-Ta Michael Lee, Sheng-Chang Wang, Hung-Lun Chiang, Cheng-Chung Chen, Ching-Hua Lin, Ming-Shun Chung, Chien-Cheng Kuo, Ding-Lieh Liao, Ching-Kuan Wu, Chih-Min Liu, Yu-Li Liu, Hai-Gwo Hwu, I-Ching Lai, Shih-Jen Tsai, Chia-Hsiang Chen, Hui-Fen Liu, Yi-Chun Chou, Chien-Hsiun Chen, Yuan-Tsong Chen, Chen-Jee Hong and Jer-Yuarn Wu

PLOS ONE, 2012, vol. 7, issue 3, 1-10

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.

Date: 2012
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Persistent link: https://EconPapers.repec.org/RePEc:plo:pone00:0033598

DOI: 10.1371/journal.pone.0033598

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