PON1 gene polymorphisms in patients with chronic obstructive pulmonary disease.

JOURNAL OF CLINICAL PATHOLOGY(2018)

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Abstract
Aims Chronic obstructive pulmonary disease (COPD) is characterised with oxidative stress. Paraoxonase 1 (PON1) is an enzyme, coded by PON1 gene, with distinctive antiatherogenic and antioxidative roles. We aimed to investigate the frequencies of Q192R, L55M and -108C>T polymorphisms and association of those polymorphisms with paraoxonase and arylesterase activities in patients with COPD. MethodsPON1 genotype was determined by PCR-restriction fragment length polymorphism method. PON1 activity was measured by paraoxon and phenylacetate. Results Only -108C>T polymorphism resulted in significantly different distribution of genotypes and alleles, with higher frequency of TT genotype and T allele in patients compared with control subjects. Moreover, T allele (OR 2.29 (95% CI 1.54 to 3.41); p<0.001) as well as TT genotype (OR 5.00 (95% CI 2.19 to 11.43); p<0.001) showed an association with the disease. -108C>T polymorphism was suggested as a significant diagnostic predictor for the disease (OR (95%CI) 2.65 (1.53 to 4.59), p=0.001), with an area under the receiver operating characteristic curve of 0.90 (95% CI 0.84 to 0.93) and with 83.90% of correctly classified cases. Conclusions Higher frequency of TT genotype and T allele could contribute to the observed reduction of PON1 activity in patients with COPD. T allele and TT genotype are associated with COPD, and the PON1-108C>T polymorphism could be a potential predictor of the disease.
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Key words
chronic obstructive pulmonary disease,paraoxonase 1,polymorphisms,Q192R,L55M,-108C > T
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