Abstract
Purpose of the research was to establish frequency of genotype collagen I gene COLIA1 (locus GI546T) and association between frequencies of genotype COLIA1 and relative risk (RR) of morbidity in Russian patients. The group of 120 smokers with COPD (II and III stage, n=60) and COPD associated with ischemic heart disease (IHD) (n=60) was examined. Control group consisted of 30 healthy persons. In the study of gene COLIA polymorphism pathological allele T was found in 15% of controls. Genotype GT was revealed at 1/3 of controls 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 (χ²=10.0, p=0.002). Genotype TT was not found in the control group only (χ²=63.2, p=0.00001). The RR of severe COPD in the presence of pathological allele T COL1A1 was higher in the I group, than in the II (RR=13.4, 95% CI: 9.7-18.6 RR=5.3, 95% CI: 4.1-6.8 accordingly). Differences in distribution of genotype GT among COPD patients significantly higher than in COPD patients associated with IHD (RR=65.4, RR=5.67, 95% CI: 15.6-273.8; 95% CI: 3.9-8.3 accordingly). Frequency of genotype TT COL1A1 was different between COPD patients associated with IHD and healthy persons (χ²=22.2, p=0.00001) and between COPD patients and controls (χ²=17.5, ρ=0.00001). Frequency of genotype TT and GT COL1A1 also was different between COPD patients and COPD patients associated with IHD (according to RR=126.1, 95% CI: 30.3-524.7; RR=7.7, 95% CI: 5.3-11.1). Our results suggest that allele T COL1A1 is associated with high risk of COPD and genotype TT of COL1A1 is associated with severity of COPD.
- © 2014 ERS