Population-based and family-based association studies of an (AC)n dinucleotide repeat in alpha-7 nicotinic receptor subunit gene and schizophrenia

J B Fan, J Ma, X W Li, C S Zhang, W W Sun, G He, N F Gu, G Y Feng, David Malcolm St Clair, L He

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The human alpha-7 neuronal nicotinic receptor subunit (CHRNA7) gene, located at chromosome 15q13.2, represents a strong candidate gene for schizophrenia, We have examined an (AC)n dinucleotide repeat in intron 2 of the CHRNA7 gene, which was previously shown to be strongly linked with schizophrenia, using both population-based and family-based association studies. In the population-based study, no significant differences between the genotype and allele frequency distributions in schizophrenia patients and control subjects were observed after correction for multiple testing, although a nominally significant association between the most common allele and schizophrenia was observed (P=0.023, uncorrected for multiple testing). In the family-based study, there is no significant over-transmission (Transmitted/Non-transmitted: 61/50) of the same allele in 160 family trios. Overall, our results do not support a major role for the (AC)n dinucleotide repeat in schizophrenia susceptibility in Han Chinese. Further large-scale genetic studies based on a set of single nucleotide polymorphisms (SNPs) that fully characterize the linkage disequilibrium patterns at the CHRNA7 gene are necessary to determine the relevance of this gene as a risk factor for schizophrenia susceptibility. (c) 2006 Elsevier B.V. All rights reserved.

Original languageEnglish
Pages (from-to)222-227
Number of pages6
JournalSchizophrenia Research
Issue number2-3
Publication statusPublished - Jun 2006


  • schizophrenia
  • CHRNA7
  • Han Chinese
  • association
  • TDT
  • linkage disequilibrium
  • chromosome 15Q13-14
  • partial duplication
  • brain
  • locus
  • deficit
  • smoking
  • markers
  • regon

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