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


Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Liou, Y-J; Wang, H-H; Lee, M-TM; Wang, S-C; Chiang, H-L; Chen, C-C; Lin, C-H; Chung, M-S; Kuo, C-C; Liao, D-L; Wu, C-K; Liu, C-M; Liu, Y-L; Hwu, H-G; Lai, I-C; Tsai, S-J; Chen, C-H; Liu, H-F; Chou, Y-C; Chen, C-H; Chen, Y-T; Hong, C-J; Wu, J-Y

Published Date

  • 2012

Published In

Volume / Issue

  • 7 / 3

Start / End Page

  • e33598 -

PubMed ID

  • 22479419

Pubmed Central ID

  • 22479419

Electronic International Standard Serial Number (EISSN)

  • 1932-6203

Digital Object Identifier (DOI)

  • 10.1371/journal.pone.0033598


  • eng

Conference Location

  • United States