title: Explorative genetic association study of GSTT2B copy number variant in complex disease risks.
abstract: BACKGROUND
  Glutathione S-transferases (GSTs) are the main phase II enzymes involved in cellular detoxification. Through phase I and phase II detoxification reactions, the cell is able to detoxify endogenous and exogenous toxic compounds.
  
  
  OBJECTIVE
  This study focused attention on the GSTT2B copy number variant (CNV) in order to explore its involvement in the genetic pre-disposition to asthma, Alzheimer's disease (AD), allergic rhinitis (AR), essential hypertension (EH), hypothyroidism and recurrent miscarriage (RM).
  
  
  METHODS
  The study population consists of 1225 individuals divided into six case-control groups. The genotyping of the GSTT2B CNV was performed by using a duplex-PCR. Odds Ratios (ORs) were calculated, adjusting for the confounding variables, to estimate the association between GSTT2B CNV and the disease status.
  
  
  RESULTS
  The χ(2)-test and ORs did not show any association between this genetic marker and pathological phenotypes.
  
  
  CONCLUSIONS
  The data highlights that GSTT2B CNV is not associated with the investigated complex diseases in Italian patients. However, further investigations are necessary to replicate these findings in larger sample sizes and to explore other health-related phenotypes.
authors.affiliation: a Department of Biology , University of Rome 'Tor Vergata' , Rome , Italy .
authors.forename: Andrea
authors.initials: A
authors.lastname: Iorio
authors.affiliation: b Department of Psychiatry , Yale University School of Medicine , West Haven , CT , USA .
authors.forename: Renato
authors.initials: R
authors.lastname: Polimanti
authors.affiliation: a Department of Biology , University of Rome 'Tor Vergata' , Rome , Italy .
authors.forename: Melania
authors.initials: M
authors.lastname: Calandro
authors.affiliation: a Department of Biology , University of Rome 'Tor Vergata' , Rome , Italy .
authors.forename: Maria Eleonora
authors.initials: ME
authors.lastname: Graziano
authors.affiliation: a Department of Biology , University of Rome 'Tor Vergata' , Rome , Italy .
authors.forename: Sara
authors.initials: S
authors.lastname: Piacentini
authors.affiliation: c Department of Clinical Neuroscience , AFaR - 'San Giovanni Calibita' Fatebenefratelli Hospital , Isola Tiberina , Rome , Italy .|d Department of Neurology , 'Campus Bio-Medico' University , Rome , Italy .
authors.forename: Serena
authors.initials: S
authors.lastname: Bucossi
authors.affiliation: c Department of Clinical Neuroscience , AFaR - 'San Giovanni Calibita' Fatebenefratelli Hospital , Isola Tiberina , Rome , Italy .|e Laboratorio Neurodegenerazione , IRCCS San Raffaele Pisana , Rome , Italy .
authors.forename: Rosanna
authors.initials: R
authors.lastname: Squitti
authors.affiliation: f Clinical Pathophysiology Center , and.
authors.forename: Natalia
authors.initials: N
authors.lastname: Lazzarin
authors.affiliation: a Department of Biology , University of Rome 'Tor Vergata' , Rome , Italy .
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Scano
authors.affiliation: g Clinical Pathology Department , AFaR - 'San Giovanni Calibita' Fatebenefratelli Hospital , Rome , Italy.
authors.forename: Giancarlo Maria
authors.initials: GM
authors.lastname: Limbruno
authors.affiliation: f Clinical Pathophysiology Center , and.
authors.forename: Dario
authors.initials: D
authors.lastname: Manfellotto
authors.affiliation: a Department of Biology , University of Rome 'Tor Vergata' , Rome , Italy .
authors.forename: Maria
authors.initials: M
authors.lastname: Fuciarelli
mesh_terms: D001499:Bayes Theorem; D016022:Case-Control Studies; D016001:Confidence Intervals; D056915:DNA Copy Number Variations / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005982:Glutathione Transferase / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D012307:Risk Factors
chemical_list: C491107:GSTT2 protein, human; D005982:Glutathione Transferase
keywords: Allergic rhinitis; Glutathione S-transferases; asthma; deletion polymorphism; essential hypertension