Investigation of findings of recent schizophrenia genome wide association and linkage studies in Indonesian samples

Nan Dai

    Research output: ThesisDoctoral Thesis

    235 Downloads (Pure)

    Abstract

    [Truncated abstract] Schizophrenia is a severely debilitating mental illness occurring worldwide. Although heritability of this disorder is high (up to 80%), no gene has been linked to schizophrenia so far with certainty. Multiple susceptibility genes with small effects are thought to play a role in the etiology of this disorder. In the present study, nine SNPs in five candidate genes previously indicated by genome-wide association studies (GWASs) and a genome-wide linkage study (GWLS) were investigated for association with schizophrenia. These candidate SNPs are located in the intronic regions of the zinc finger protein 804A(ZNF804A), transcription factor 4 (TCF4), microRNA137 (MIR137), metabotropic glutamate receptor 7(GRM7) and synapsin 2 (SYN2) genes. From studies of the functions of these five genes, it is biologically plausible they may be genetically associated with schizophrenia. The loci containing these SNPs have been investigated in previous studies, but with inconsistent results and most of these studies have used Caucasian samples. Except for analysis of SNPs in the genomic region of the GRM7 gene conducted by our research team, there are no other studies using samples from Indonesia. The present study aimed to confirm associations of the nine candidate SNPs with schizophrenia in samples from Indonesia and to investigate population specificity of these SNPs. The samples for genotyping these SNPs consisted of a case control sample (1067 cases and 1111 controls) and a family sample (145 families). A TaqMan SNP genotyping assay and PCR-RFLP assay were used for genotyping. Allele frequencies in cases and controls were compared using Chi2-statistics, and the transmission disequilibrium test (TDT) was used for assessing the family sample...
    Original languageEnglish
    QualificationDoctor of Philosophy
    Publication statusUnpublished - 2013

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