title: Genome-wide association study of treatment refractory schizophrenia in Han Chinese.
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.
authors.affiliation: Department of Psychiatry, Taipei Veterans General Hospital, Taipei, Taiwan.
authors.forename: Ying-Jay
authors.initials: YJ
authors.lastname: Liou
authors.forename: Hui-Hung
authors.initials: HH
authors.lastname: Wang
authors.forename: Ming-Ta Michael
authors.initials: MT
authors.lastname: Lee
authors.forename: Sheng-Chang
authors.initials: SC
authors.lastname: Wang
authors.forename: Hung-Lun
authors.initials: HL
authors.lastname: Chiang
authors.forename: Cheng-Chung
authors.initials: CC
authors.lastname: Chen
authors.forename: Ching-Hua
authors.initials: CH
authors.lastname: Lin
authors.forename: Ming-Shun
authors.initials: MS
authors.lastname: Chung
authors.forename: Chien-Cheng
authors.initials: CC
authors.lastname: Kuo
authors.forename: Ding-Lieh
authors.initials: DL
authors.lastname: Liao
authors.forename: Ching-Kuan
authors.initials: CK
authors.lastname: Wu
authors.forename: Chih-Min
authors.initials: CM
authors.lastname: Liu
authors.forename: Yu-Li
authors.initials: YL
authors.lastname: Liu
authors.forename: Hai-Gwo
authors.initials: HG
authors.lastname: Hwu
authors.forename: I-Ching
authors.initials: IC
authors.lastname: Lai
authors.forename: Shih-Jen
authors.initials: SJ
authors.lastname: Tsai
authors.forename: Chia-Hsiang
authors.initials: CH
authors.lastname: Chen
authors.forename: Hui-Fen
authors.initials: HF
authors.lastname: Liu
authors.forename: Yi-Chun
authors.initials: YC
authors.lastname: Chou
authors.forename: Chien-Hsiun
authors.initials: CH
authors.lastname: Chen
authors.forename: Yuan-Tsong
authors.initials: YT
authors.lastname: Chen
authors.forename: Chen-Jee
authors.initials: CJ
authors.lastname: Hong
authors.forename: Jer-Yuarn
authors.initials: JY
authors.lastname: Wu
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D002460:Cell Line; D005260:Female; D055106:Genome-Wide Association Study; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D052002:NF-kappa B p50 Subunit / Q000235:genetics / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D012559:Schizophrenia / Q000235:genetics* / Q000378:metabolism; D013624:Taiwan
chemical_list: D052002:NF-kappa B p50 Subunit; C489548:NFKB1 protein, human