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Association of schizophrenia with the phenylthiocarbamide taste receptor haplotype on chromosome 7q

Moberg, Paul J.a,b,c; Li, Mingyaod; Kanes, Stephen J.a,f; Gur, Raquel E.a,c,e; Kamath, Vidyulataa,b; Turetsky, Bruce I.a,b

doi: 10.1097/YPG.0b013e32835863f0
Original Articles

Phenylthiocarbamide (PTC) taste sensitivity is an inherited trait determined primarily by allelic variation of the taste-receptor gene TAS2R38 on chromosome 7q. Results of prior studies examining the ability to taste PTC in patients with schizophrenia have been mixed because of the difficulties in measuring PTC taste sensitivity behaviorally. In the current study, we examined the TAS2R38 genotypes of schizophrenia patients to determine whether the increased prevalence of nontasters in this patient population was indicative of a specific genetic association. Our a-priori hypothesis was that schizophrenia patients would show an increased prevalence of the nontaster phenotype compared with controls. The genotypes of two nonsynonymous coding single-nucleotide polymorphisms in TAS2R38 were assayed for 176 schizophrenia patients and 229 healthy control individuals, and the two-allele haplotypes were estimated. There was an over-representation of the major PTC nontaster haplotype among patients of European descent, relative to control individuals of similar ancestry. Patients and controls of African ancestry did not differ. The PTC nontaster haplotype is a genetic marker that may be used to identify subsets of schizophrenia patients who potentially harbor vulnerability genes in this region of chromosome 7q.

aNeuropsychiatry Section, Schizophrenia Research Center, Department of Psychiatry

bSmell and Taste Center, Department of Otorhinolaryngology: Head & Neck Surgery

cDepartment of Neurology

dDepartment of Biostatistics and Epidemiology

eDepartment of Radiology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania

fMedical Science, AstraZeneca Pharmaceuticals, Wilmington, Delaware, USA

Correspondence to Paul J. Moberg, PhD, Schizophrenia Research Center, Neuropsychiatry Section, Department of Psychiatry, University of Pennsylvania Perelman School of Medicine, 10th Floor, Gates Building, 3400 Spruce Street, Philadelphia, PA 19104, USA Tel: +1 215 615 3608; fax: +1 215 662 7903; e-mail:

Received September 15, 2011

Accepted May 27, 2012

© 2012 Lippincott Williams & Wilkins, Inc.