Explorative genetic association study of GSTT2B copy number variant in complex disease risks

Ann Hum Biol. 2016 May;43(3):279-84. doi: 10.3109/03014460.2015.1049206. Epub 2015 Jul 24.


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.

Aims: 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.

Conclusion: 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.

Keywords: Allergic rhinitis; Glutathione S-transferases; asthma; deletion polymorphism; essential hypertension.

MeSH terms

  • Bayes Theorem
  • Case-Control Studies
  • Confidence Intervals
  • DNA Copy Number Variations / genetics*
  • Female
  • Gene Frequency / genetics
  • Genetic Association Studies*
  • Genetic Predisposition to Disease*
  • Glutathione Transferase / genetics*
  • Humans
  • Male
  • Middle Aged
  • Odds Ratio
  • Risk Factors


  • GSTT2 protein, human
  • Glutathione Transferase