| 1 | Psychiatr. Genet. 2012 Dec 22: 286-9 |
|---|---|
| PMID | 22955840 |
| Title | Association of schizophrenia with the phenylthiocarbamide taste receptor haplotype on chromosome 7q. |
| Abstract | Phenylthiocarbamide (PTC) taste sensitivity is an inherited trait determined primarily by allelic variation of the taste-receptor geneTAS2R38on chromosome 7q. Results of prior studies examining the ability to taste PTC in patients withschizophreniahave been mixed because of the difficulties in measuring PTC taste sensitivity behaviorally. In the current study, we examined theTAS2R38genotypes ofschizophreniapatients to determine whether the increased prevalence of nontasters in this patient population was indicative of a specific genetic association. Our a-priori hypothesis was thatschizophreniapatients would show an increased prevalence of the nontaster phenotype compared with controls. The genotypes of two nonsynonymous coding single-nucleotide polymorphisms inTAS2R38were assayed for 176schizophreniapatients 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 ofschizophreniapatients who potentially harbor vulnerability genes in this region of chromosome 7q. |
| SCZ Keywords | schizophrenia |
| 2 | Psychiatry Res 2012 Aug 199: 8-11 |
| PMID | 22503356 |
| Title | Phenylthiocarbamide (PTC) perception in ultra-high risk for psychosis participants who develop schizophrenia: testing the evidence for an endophenotypic marker. |
| Abstract | 报告显示thatschizophreniaparticipants are more likely to be phenylthiocarbamide (PTC) non-tasters when compared to controls have recently been controversial. If supported, a genetic-based phenotypic variation in PTC taster status is implicated, suggesting a greater illness risk for those participants with recessive alleles for theTAS2R38receptor. Should PTC insensitivity be aschizophreniaendophenotype, then it would be expected in follow-up of ultra high-risk for psychosis participants who later developschizophrenia(UHR-S). UHR-S was hypothesised to show reduced PTC sensitivity compared to those who were previously at risk, but did not transition (UHR-NP). PTC perception was assessed in 219 UHR participants at long-term follow-up, of whom 53 had transitioned to psychosis (UHR-P) during the follow-up period. Fifteen of the 219 participants were diagnosed withschizophrenia. Seventy-eight had a family history of psychotic disorder. No differences in PTC taster status were found in UHR participants based upon transition to psychosis status,schizophreniadiagnosis, or family history ofschizophrenia. This report indicates thatschizophreniadevelopment among UHR participants is not associated with PTC tasting deficits and fails to support previous findings that inability to detect the bitter taste of PTC is aschizophreniaendophenotype. |
| SCZ Keywords | schizophrenia |