Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2

Nat Genet. 2011 Oct 30;43(12):1228-31. doi: 10.1038/ng.979.

Abstract

To identify susceptibility loci for schizophrenia, we performed a two-stage genome-wide association study (GWAS) of schizophrenia in the Han Chinese population (GWAS: 746 individuals with schizophrenia and 1,599 healthy controls; validation: 4,027 individuals with schizophrenia and 5,603 healthy controls). We identified two susceptibility loci for schizophrenia at 6p21-p22.1 (rs1233710 in an intron of ZKSCAN4, P(combined) = 4.76 × 10(-11), odds ratio (OR) = 0.79; rs1635 in an exon of NKAPL, P(combined) = 6.91 × 10(-12), OR = 0.78; rs2142731 in an intron of PGBD1, P(combined) = 5.14 × 10(-10), OR = 0.79) and 11p11.2 (rs11038167 near the 5' UTR of TSPAN18, P(combined) = 1.09 × 10(-11), OR = 1.29; rs11038172, P(combined) = 7.21 × 10(-10), OR = 1.25; rs835784, P(combined) = 2.73 × 10(-11), OR = 1.27). These results add to previous evidence of susceptibility loci for schizophrenia at 6p21-p22.1 in the Han Chinese population. We found that NKAPL and ZKSCAN4 were expressed in postnatal day 0 (P0) mouse brain. These findings may lead to new insights into the pathogenesis of schizophrenia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Animals
  • Asians
  • Brain / metabolism
  • Case-Control Studies
  • Chromosomes, Human, Pair 11*
  • Chromosomes, Human, Pair 6
  • Co-Repressor Proteins / genetics
  • DNA-Binding Proteins / genetics
  • Female
  • Gene Frequency
  • Genetic Loci
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study
  • Humans
  • Male
  • Mice
  • Mice, Inbred ICR
  • Nerve Tissue Proteins / genetics
  • Nuclear Proteins / genetics
  • Polymorphism, Single Nucleotide*
  • Principal Component Analysis
  • Quantitative Trait Loci
  • Schizophrenia / ethnology
  • Schizophrenia / genetics*
  • Tetraspanins / genetics
  • Transcription, Genetic

Substances

  • Co-Repressor Proteins
  • DNA-Binding Proteins
  • NKAPL protein, human
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • PGBD1 protein, human
  • TSPAN18 protein, human
  • Tetraspanins
  • ZKSCAN4 protein, human