Evaluation of DNA Damage in COPD Patients and Its Correlation with Polymorphisms in Repair Genes

Overview

Journal BMC Med Genet

Publisher Biomed Central

Specialty Genetics

Date 2013 Sep 24

PMID 24053728

Citations 15

Authors

Andrea Lucia Goncalves da Silva

Helen Tais da Rosa

Thais Evelyn Karnopp

Clara Forrer Charlier

Joel Henrique Ellwanger

Dinara Jaqueline Moura

Lia Goncalves Possuelo

Andreia Rosane de Moura Valim

Temenouga Nikolova Guecheva

Joao Antonio Pegas Henriques

Affiliations

Soon will be listed here.

Abstract

Background: We investigated a potential link between genetic polymorphisms in genes XRCC1 (Arg399Gln), OGG1 (Ser326Cys), XRCC3 (Thr241Met), and XRCC4 (Ile401Thr) with the level of DNA damage and repair, accessed by comet and micronucleus test, in 51 COPD patients and 51 controls.

Methods: Peripheral blood was used to perform the alkaline and neutral comet assay; and genetic polymorphisms by PCR/RFLP. To assess the susceptibility to exogenous DNA damage, the cells were treated with methyl methanesulphonate for 1-h or 3-h. After 3-h treatment the % residual damage was calculated assuming the value of 1-h treatment as 100%. The cytogenetic damage was evaluated by buccal micronucleus cytome assay (BMCyt).

Results: COPD patients with the risk allele XRCC1 (Arg399Gln) and XRCC3 (Thr241Met) showed higher DNA damage by comet assay. The residual damage was higher for COPD with risk allele in the four genes. In COPD patients was showed negative correlation between BMCyt (binucleated, nuclear bud, condensed chromatin and karyorrhexic cells) with pulmonary function and some variant genotypes.

Conclusion: Our results suggest a possible association between variant genotypes in XRCC1 (Arg399Gln), OGG1 (Ser326Cys), XRCC3 (Thr241Met), and XRCC4 (Ile401Thr), DNA damage and progression of COPD.

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