Family-based association study of DTNBP1 in 6p22.3 and schizophrenia.

The existence of an important genetic contribution to the etiology of schizophrenia is well established from genetic epidemiological studies. The gene of DTNBP1 located on 6p22.3, a high-susceptibility chromosome region of schizophrenia, was highly associated with schizophrenia in Irish high-density pedigrees. DTNBP1, the human ortholog of mouse dysbindin, appears to have a role in neuromuscular synapse formation and maintenance. In the present study, to confirm and extend findings of DTNBP1 in independent samples, researchers investigated seven SNPs within 140-kb length of the gene DTNBP1 in 233 Han Chinese trios. Results showed less heterozygosity in the seven SNPs of DTNBP1 gene compared with the data from a study with Irish high-density pedigrees collected from the relatively homogeneous population of Ireland and Northern Ireland.