ORIGINAL PAPER Case–control association study for 10 genes in patients with schizophrenia: influence of 5HTR1A variation rs10042486 on schizophrenia and response to antipsychotics Concetta Crisafulli • Alberto Chiesa • Changsu Han • Soo-Jung Lee • Moon Ho Park • Beatrice Balzarro • Costanza Andrisano • Ashwin A. Patkar • Chi-Un Pae • Alessandro Serretti Received: 12 October 2011 / Accepted: 17 November 2011 / Published online: 27 November 2011 Ó Springer-Verlag 2011 Abstract The aim of this study is to investigate possible associations between a set of single-nucleotide polymor- phisms (SNPs) within 10 genes with Schizophrenia (SCZ) and response to antipsychotics in Korean in-patients treated with antipsychotics. Two hundred and twenty-one SCZ in-patients and 170 psychiatrically healthy controls were genotyped for 42 SNPs within ABCB1, ABCB4, TAP2, CLOCK, CPLX1, CPLX2, SYN2, NRG1, 5HTR1A and GPRIN2. Baseline and final clinical measures, including the Positive and Negative Symptoms Scale (PANSS), were recorded. Rs10042486 within 5HTR1A was associated with both SCZ and clinical improvement on PANSS total scores as well as on PANSS positive and PANSS negative scores. The haplotype analyses focusing on the four, three and two blocks’ haplotypes within 5HTR1A confirmed such find- ings as well. We did not observe any significant association between the remaining genetic variants under investigation in this study and clinical outcomes. Our preliminary find- ings suggest that rs10042486 within 5HTR1A promoter region could be associated with SCZ and with clinical improvement on PANSS total, positive and negative scores in Korean patients with SCZ. However, taking into account the several limitations of our study, further research is needed to draw more definitive conclusions. Keywords Schizophrenia  Antipsychotics  ABCB1  ABCB4  TAP2  CLOCK  CPLX1  CPLX2  SYN2  NRG1  5HTR1A and GPRIN2 Introduction Schizophrenia (SCZ) is a neurodevelopmental psychiatric disorder that affects about 1% of the population and ranks among the top 10 causes of disability worldwide [1, 2]. Although environmental factors can play a significant role into the development of SCZ [3], both formal and molec- ular genetics’ studies converge on suggesting that such disorder has a strong genetic etiology [4, 5]. However, it is unlikely that a single molecule, being it a neurotransmitter, receptor or enzyme, ‘‘causes’’ SCZ [6]. Rather, different systems seem to interact with one another in a complex web to produce specific symptoms and phenomena [7]. In the last decade, several association studies, frequently employing a case–control design, have been performed that Electronic supplementary material The online version of this article (doi:10.1007/s00406-011-0278-3) contains supplementary material, which is available to authorized users. C. Crisafulli Department of Biomorphology and Biotechnologies, Division of Biology and Genetics, University of Messina, Messina, Italy A. Chiesa  B. Balzarro  C. Andrisano  A. Serretti Institute of Psychiatry, University of Bologna, Bologna, Italy C. Han Department of Psychiatry, College of Medicine, Korea University, Ansan, Kyounggi-Do, Republic of Korea S.-J. Lee  C.-U. Pae (&) Department of Psychiatry, Bucheon St. Mary’s Hospital, The Catholic University of Korea College of Medicine, 2 Sosa-Dong, Wonmi-Gu, Bucheon, Kyounggi-Do 420-717, Republic of Korea e-mail: pae@catholic.ac.kr M. H. Park Department of Neurology, College of Medicine, Korea University, Ansan, Kyounggi-Do, Republic of Korea A. A. Patkar  C.-U. Pae Department of Psychiatry and Behavioral Sciences, Duke University Medical Center, Durham, NC, USA 123 Eur Arch Psychiatry Clin Neurosci (2012) 262:199–205 DOI 10.1007/s00406-011-0278-3