Association of Sult4A1 SNPs with psychopathology and cognition in patients with schizophrenia or schizoaffective disorder

Herbert Y. Meltzer*, Mark D. Brennan, Neil D. Woodward, Karu Jayathilake

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

25 Scopus citations


A number of genes located on chromosome 22q11-13, including catechol-O-methyltransferase (COMT), are potential schizophrenia susceptibility genes. Recently, the sulfotransferase-4A1 (Sult4A1) locus within chromosome 22q13 was reported to be linked to schizophrenia in a family TDT study. Sult4A1 is related to metabolism of monoamines, particularly dopamine and norepinephrine, both of which have been implicated in the pathophysiology of the psychopathology and cognitive dysfunction components of schizophrenia. An available, prospectively collected data base was interrogated to determine how three Sult4A1 SNPs: rs138060, rs138097, and rs138110, previously shown to be associated with schizophrenia might be associated with psychopathology, cognition, and quality of life in a sample of 86 Caucasian patients with schizophrenia or schizoaffective disorder. The majority of patients met criteria for treatment resistant schizophrenia and had been drug-free for one week or longer at the time of evaluation. The major findings were: 1) patients heterozygous (T/G) for rs138060 had significantly worse Brief Psychiatric Rating Scale (BPRS) Total and anxiety/depression sub-scale scores, and higher Scale for the Assessment of Positive Symptoms (SAPS) Total scores than G/G homozygous patients; and 2) patients heterozygous (A/G) for rs138097 demonstrated significantly worse performance on neuropsychological testing, specifically on tests of executive function and working memory, compared to patients homozygous for the G and A alleles. RS138110 was unrelated to psychopathology and cognition. These results provide the first evidence of how genetic variation in Sult4A1 may be related to clinical symptoms and cognitive function in schizophrenia, and permit future studies to attempt to replicate these potentially important findings.

Original languageEnglish (US)
Pages (from-to)258-264
Number of pages7
JournalSchizophrenia Research
Issue number2-3
StatePublished - Dec 2008


  • Neuropsychology
  • Psychopathology
  • SNP
  • Schizophrenia
  • Sulfotransferase-4A1

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Biological Psychiatry


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