title: The influence of AHI1 variants on the diagnosis and treatment outcome in schizophrenia.
abstract: The present study aimed to explore whether four single nucleotide polymorphisms (SNPs) within the AHI1 gene could be associated with schizophrenia (SCZ) and whether they could predict the clinical outcomes in SCZ patients treated with antipsychotics. Four hundred twenty-six (426) in-patients with SCZ and 345 controls were genotyped for four AHI1 SNPs (rs11154801, rs7750586, rs9647635 and rs9321501). Baseline and clinical measures for SCZ patients were assessed through the Positive and Negative Syndrome Scale (PANSS). Allelic and genotypic frequencies in SCZ subjects were compared with those of controls using the χ2 statistics. The repeated-measure ANOVA was used for the assessment of treatment outcomes measured by PANSS changes. The case-control analysis did not show any difference in the genotypic distribution of the SNPs, while in the allelic analysis, a weak association was found between the rs9647635 A allele and SCZ. Furthermore, in the haplotype analysis, three haplotypes resulted in being associated with SCZ. On the other hand, two SNPs (rs7750586 and rs9647635) were associated with clinical improvement of negative symptoms in the allelic analysis, although in the genotypic analysis, only trends of association were found for the same SNPs. Our findings suggest a possible influence of AHI1 variants on SCZ susceptibility and antipsychotic response, particularly concerning negative symptomatology. Subsequent well-designed studies would be mandatory to confirm our results due to the methodological shortcomings of the present study.
authors.affiliation: Institute of Psychiatry, Department of Biomedical and NeuroMotor Sciences, University of Bologna, Bologna 40123, Italy. stefano.porcelli@yahoo.it.
authors.forename: Stefano
authors.initials: S
authors.lastname: Porcelli
authors.affiliation: Department of Psychiatry, the Catholic University of Korea College of Medicine, Seoul 137701, Korea. pae@catholic.ac.kr.
authors.forename: Chi-Un
authors.initials: CU
authors.lastname: Pae
authors.affiliation: Department of Psychiatry, Korea University, College of Medicine, Seoul 136701, Korea. hancs@korea.ac.kr.
authors.forename: Changsu
authors.initials: C
authors.lastname: Han
authors.affiliation: Department of Psychiatry, the Catholic University of Korea College of Medicine, Seoul 137701, Korea. crystal@catholic.ac.kr.
authors.forename: Soo-Jung
authors.initials: SJ
authors.lastname: Lee
authors.affiliation: Department of Psychiatry and Behavioural Sciences, Duke University Medical Center, Durham, NC 27710, USA. ashwin.patkar@duke.edu.
authors.forename: Ashwin A
authors.initials: AA
authors.lastname: Patkar
authors.affiliation: Global Medical Education, New York, NY 15260, USA. pmasand2001@yahoo.com.
authors.forename: Prakash S
authors.initials: PS
authors.lastname: Masand
authors.affiliation: Institute of Psychiatry, Department of Biomedical and NeuroMotor Sciences, University of Bologna, Bologna 40123, Italy. beatrice.balzarro@libero.it.
authors.forename: Beatrice
authors.initials: B
authors.lastname: Balzarro
authors.affiliation: Institute of Psychiatry, Department of Biomedical and NeuroMotor Sciences, University of Bologna, Bologna 40123, Italy. siegfried.alberti@studio.unibo.it.
authors.forename: Siegfried
authors.initials: S
authors.lastname: Alberti
authors.affiliation: Institute of Psychiatry, Department of Biomedical and NeuroMotor Sciences, University of Bologna, Bologna 40123, Italy. diana.deronchi@unibo.it.
authors.forename: Diana
authors.initials: D
authors.lastname: De Ronchi
authors.affiliation: Institute of Psychiatry, Department of Biomedical and NeuroMotor Sciences, University of Bologna, Bologna 40123, Italy. alessandro.serretti@unibo.it.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Serretti
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics* / Q000378:metabolism; D033942:Adaptor Proteins, Vesicular Transport; D000328:Adult; D000483:Alleles; D014150:Antipsychotic Agents / Q000627:therapeutic use; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012559:Schizophrenia / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D016896:Treatment Outcome
chemical_list: C487178:AHI1 protein, human; D048868:Adaptor Proteins, Signal Transducing; D033942:Adaptor Proteins, Vesicular Transport; D014150:Antipsychotic Agents