Genetic association of single nucleotide polymorphisms in dystrobrevin binding protein 1 gene with schizophrenia in a Malaysian population

• Published in: Genetics and molecular biology 2015-06, Vol.38 (2), p.138-146
• Main Authors: Tan, Grace Kang Ning, Tee, Shiau Foon, Tang, Pek Yee
• Format: Article
• Language: English
• Subjects: BIOCHEMISTRY & MOLECULAR BIOLOGY; case-control study; DTNBP1; GENETICS & HEREDITY; Human and Medical Genetics; schizophrenia; single nucleotide polymorphism
• ISSN: 1415-4757; 1678-4685; 1415-4757; 1678-4685
• DOI: 10.1590/S1415-4757382220140142

Dystrobrevin binding protein 1 (DTNBP1) gene is pivotal in regulating the glutamatergic system. Genetic variants of the DTNBP1 affect cognition and thus may be particularly relevant to schizophrenia. We therefore evaluated the association of six single nucleotide polymorphisms (SNPs) with schizophrenia in a Malaysian population (171 cases; 171 controls). Associations between these six SNPs and schizophrenia were tested in two stages. Association signals with p < 0.05 and minor allele frequency > 0.05 in stage 1 were followed by genotyping the SNPs in a replication phase (stage 2). Genotyping was performed with sequenced specific primer (PCR-SSP) and restriction fragment length polymorphism (PCR-RFLP). In our sample, we found significant associations between rs2619522 (allele p = 0.002, OR = 1.902, 95%CI = 1.266 - 2.859; genotype p = 0.002) and rs2619528 (allele p = 0.008, OR = 1.606, 95%CI = 1.130 - 2.281; genotype p = 6.18 × 10(-5)) and schizophrenia. Given that these two SNPs may be associated with the pathophysiology of schizophrenia, further studies on the other DTNBP1 variants are warranted.