Abstract
The aim of the research was to establish association between presence of mutant genotype COL1A1 (locus G1546T), null-genotypes of glutation-S-transferases (GSTs) GSTM1 and GSTT1 and stage of chronic obstructive pulmonary disease (COPD). The group of patients with COPD (II and III stage of COPD, n=30) associated with I-II functional groups of stable stenocardia (I and II subgroup, n=30) was examined.
In the research of gene COL1A polymorphism pathological allele T was found in 15% of healthy persons. Genotype GT was revealed at 1/3 of control group while pathological homozygous genotype TT in the same group hadn't been registered. In both groups frequency of genotype GT was higher than in the control group (χ 2 =6.5, ρ =0.01). Genotype TT was found in II group only (χ 2 =12, ρ =0.01). The OR of severe COPD in the presence of pathological allele T COL1A1 was authentically higher in II group, than in I (OR=1.74, OR=1.65, accordingly; p <0.05). Patients with pathological genotype of COL1A1 had been screened for the presence of combined null-genotype of GSTs. The homozygous deletion of both genes was found at four patients (all patients from II group). Respectively these patients had pathological genotype GT of COL1A1 demonstrated by functional inadequacy of collagen 1A1. Presence of combined null-genotype GSTM1 and GSTT1 at these patients, in turn, can lead to the total absence of enzymes GSTs, contributing accumulation of toxic intermediate metabolites of xenobiotics in the cell without their further neutralization and development of oxidative stress and destruction of connective tissue.
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