Adenosine A1 receptor (ADORA1) has a neuromodulatory activity in early stage of brain development. Recent studies have been suggested that a deficit in adenosinergic function may be a key factor in the pathophysiology of schizophrenia. To determine the genetic association between ADORA1 gene polymorphism and schizophrenia in Korean population, we genotyped single nucleotide polymorphism (SNP) (rs10920568, A102A, exon5) in the ADORA1 gene by using the direct sequencing. Among SNPs in the coding region of ADORA1, only one synonymous SNP's heterozygosity (rs10920568) is more than 0.05. Three hundred three control and 284 schizophrenia subjects were recruited. For the analysis of genetic data, EM algorithm, SNPStats, SNPAnalyzer, and Helixtree programs were used. Multiple logistic regression analysis with the codominant, dominant, and recessive models was performed. The genotype frequencies of rs10920568 showed statistically significant difference between schizophrenic patients and healthy control subjects. The rs10920568 SNP of ADORA1 was weakly associated with schizophrenia in the dominant model (p=0.04, odds ratio=0.70, 95% confidence interval =0.50∼0.98). The result suggests that the ADORA1 gene may be associated with schizophrenia.

Keywords: adenosine A1 receptor, association, schizophrenia, single nucleotide polymorphism