Evaluation of DNA damage in COPD patients and its correlation with polymorphisms in repair genes

BMC Medical Genetics

João Antonio Pêgas Henriques⁶  Temenouga Nikolova Guecheva²  Andréia Rosane de Moura Valim³  Lia Gonçalves Possuelo³  Dinara Jaqueline Moura⁵  Joel Henrique Ellwanger³  Clara Forrer Charlier¹  Thaís Evelyn Karnopp⁴  Helen Tais da Rosa⁴  Andréa Lúcia Gonçalves da Silva¹ 

[1] Graduate Program in Cell and Molecular Biology, Federal University of Rio Grande do Sul - UFRGS, Porto Alegre, RS, Brazil;Department of Biophysics, Federal University of Rio Grande do Sul - UFRGS, Porto Alegre, RS, Brazil;Department of Biology and Pharmacy, University of Santa Cruz do Sul - UNISC, Santa Cruz do Sul, RS, Brazil;Scientific Initiation of University of Santa Cruz do Sul - UNISC, Santa Cruz do Sul, RS, Brazil;Laboratory of Genetic Toxicology, Federal University of Health Sciences of Porto Alegre - UFCSPA, Porto Alegre, RS, Brazil;Institute of Biotechnology, University of Caxias do Sul, Caxias do Sul, RS, Brazil

关键词: BMCyt;    Genetic polymorphisms;    DNA repair;    DNA damage;    COPD;   

Others  :  1122637
DOI  :  10.1186/1471-2350-14-93

 received in 2013-05-17, accepted in 2013-09-11,  发布年份 2013

【 摘 要 】

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.

【 授权许可】

   
2013 da Silva et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

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