Identification of genomic regions on chromosome 22 associated with schizophrenia using exploratory eye movements

点击翻译按钮获取中文摘要

We screened the beta-adrenergic receptor kinase 2 (ADRBK2) gene and peptidyl isomerase (cyclophiin)-like 2 (PPIL2) gene for mutations in 48 schizophrenia probands, and evaluated the detected polymorphisms and those reported in the JSNP database for associations with schizophrenia in 113 family trios of schizophrenia probands. Four single nucleotide variants in ADRBK2 gene and eight single nucleotide variants in PPIL2 gene were identified. Among them, the Cys208Ser variant in ADRBK2 gene was the only non-synonymous mutation. Allelic, genotypic and haplotypic analyses provided no evidence for association between alleles at these polymorphisms and schizophrenia. The results indicate that the ADRBK2 and PPIL2 genes are unlikely to contribute strongly to schizophrenia susceptibility in this set of families.We analyzed a total of 68 families with 274 members. At least one schizophrenic patient was included in each family. Deletion screening was performed for 1505 unrelated Japanese subjects. Short. tandem repeat polymorphisms (STRPs) and single nucleotide polymorphisms (SNPs) were detected and genotyped for assessing linkage disequilibrium (LD) blocks. LD blocks were computed by a GOLD program and LD/association with schizophrenia was assessed by trarismission disequilibrium test (TDT). In addition to 22q11.2, 22q12.1, and 22q12.3, mutations were screened for four genes of APOL1, APOL2, APOL3, and APOL4 in 22q12.3. We identified novel STRPs in 22q11.2 region and detected LD blocks associated with schizophrenia. We also found that genomic neighboring regions of the APOL1 and APOL4 genes were associated with schizophrenia. We clearly demonstrated that deletion of the PRODH gene do not raise a risk of schizophrenia greatly. The study was approved by the Ethics Committees of Nihon University and University of Tsukuba.