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

作者信息

Iorio Andrea, Polimanti Renato, Calandro Melania, Graziano Maria Eleonora, Piacentini Sara, Bucossi Serena, Squitti Rosanna, Lazzarin Natalia, Scano Giuseppina, Limbruno Giancarlo Maria, Manfellotto Dario, Fuciarelli Maria

机构信息

a Department of Biology , University of Rome 'Tor Vergata' , Rome , Italy .

b Department of Psychiatry , Yale University School of Medicine , West Haven , CT , USA .

出版信息

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

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.

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.

摘要

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