title: A genetic variant withinSTSpreviously associated with inattention in boys with attention deficit hyperactivity disorder is associated with enhanced cognition in healthy adult males.
abstract: The enzyme steroid sulfatase (STS) converts sulfated steroids to their non-sulfated forms. Deficiency for this enzyme is associated with inattention but preserved response control. The polymorphism rs17268988 within the X-linkedSTSgene is associated with inattentive, but not other, symptoms in boys with attention deficit hyperactivity disorder (ADHD).
  
  
  
  We initially tested whether rs17268988 genotype was associated with attention, response control, and underlying aspects of cognition, using questionnaires and neuropsychological tasks, in two independent cohorts of healthy adult males. In an additional analysis based upon existing data, the performance of mice with genetic or pharmacological manipulations of the STS axis under attentionally demanding conditions was investigated.
  
  
  
  G-allele carriers at rs17268988 exhibited reduced reaction time, enhanced attention, and reduced reaction time variability relative to C-allele carriers. Mice with genetic or pharmacological manipulations of the STS axis were shown to have perturbed reaction time variability.
  
  
  
  Our findings provide additional support for an association between rs17268988 genotype and attention, which may be partially mediated by reaction time variability; they also indicate that, in contrast to the situation in boys with ADHD, in healthy men, the G-allele at rs17268988 is associated with enhanced cognition. As reaction time variability is a predictor of well-being, rs17268988 genotype may represent a biomarker for long-term health.
authors.affiliation: School of Psychology Cardiff University Cardiff UK.
authors.forename: Trevor
authors.initials: T
authors.lastname: Humby
authors.affiliation: Division of Psychological Medicine and Clinical Neurosciences Medical Research Council Centre for Neuropsychiatric Genetics and Genomics School of Medicine Cardiff University Cardiff UK.
authors.forename: Amelia
authors.initials: A
authors.lastname: Fisher
authors.affiliation: School of Psychology Cardiff University Cardiff UK.
authors.forename: Christopher
authors.initials: C
authors.lastname: Allen
authors.affiliation: School of Psychology Cardiff University Cardiff UK.
authors.forename: Meghann
authors.initials: M
authors.lastname: Reynolds
authors.affiliation: Department of Psychiatry Martin Luther University of Halle Halle Germany.
authors.forename: Annette
authors.initials: A
authors.lastname: Hartman
authors.affiliation: Department of Psychiatry Martin Luther University of Halle Halle Germany.
authors.forename: Ina
authors.initials: I
authors.lastname: Giegling
authors.affiliation: Department of Psychiatry Martin Luther University of Halle Halle Germany.
authors.forename: Dan
authors.initials: D
authors.lastname: Rujescu
authors.affiliation: School of Psychology Cardiff University Cardiff UK; Division of Psychological Medicine and Clinical Neurosciences Medical Research Council Centre for Neuropsychiatric Genetics and Genomics School of Medicine Cardiff University Cardiff UK; Neuroscience and Mental Health Research Institute Cardiff University Cardiff UK.
authors.forename: William
authors.identifier: 0000-0002-7714-2440
authors.initials: W
authors.lastname: Davies
mesh_terms: D000328:Adult; D000818:Animals; D001288:Attention / Q000502:physiology*; D001289:Attention Deficit Disorder with Hyperactivity / Q000235:genetics / Q000503:physiopathology*; D003071:Cognition / Q000502:physiology*; D015331:Cohort Studies; D056344:Executive Function / Q000502:physiology*; D006801:Humans; D008297:Male; D051379:Mice; D008875:Middle Aged; D011597:Psychomotor Performance / Q000502:physiology*; D011930:Reaction Time / Q000235:genetics / Q000502:physiology*; D043266:Steryl-Sulfatase / Q000235:genetics*; D055815:Young Adult
chemical_list: C584039:STS protein, human; D043266:Steryl-Sulfatase
keywords: 5‐choice serial reaction time task; RRID: SCR_014794; coefficient of variation; intra‐individual reaction time variability