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Vol 42(2008) N 1 p. 27-36; G.F. Korytina1, L.Z. Akhmadishina1, O.V. Kochetova1, Sh.Z. Zagidullin2, T.V. Victorova1,2 Association of polymorphisms of the CYP1A1 and CYP1A2cytochrome P450 genes with chronic obstructive pulmonary disease in Bashkortostan 1Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences, Ufa, 450054, Russia2Bashkir State Medical University, Ufa, 450000, Russia Received - 2007-02-22; Accepted - 2007-03-12 The frequencies of polymorphisms of CYP1A1 (2455A/G, 3801T/C) and CYP1A2 (-2464T/delT, -163C/A) were determined in healthy residents of Bashkortostan (Russians, Tatars, and Bashkirs) and tested for association with chronic obstructive pulmonary disease (COPD). Interethnic differences in the frequency distribution of the CYP1A1 and CYP1A2 polymorphisms were significant. In Tatars and Russians, the CYP1A1 and CYP1A2 haplotype frequencies were similar (χ2 = 0.973, df = 3, P= 1.00 and χ2 = 1.546, df = 3, P = 0.92, respectively). In Bashkirs, the CYP1A1 haplotype frequencies significantly differed from those in Russians and Tatars (χ2 = 12.328, df = 3, P = 0.008 and χ2 = 9.218, df = 3, P = 0.034, respectively) owing to a high frequency of CYP1A1*2B (10.17%). Similarly, Bashkirs differed from Russians and Tatars in the CYP1A2 haplotype frequencies (χ2 = 18.779, df = 3, P = 0.0001 and χ2 = 14.326, df = 3, P = 0.003, respectively). The frequency of the CYP1A2*1D haplotype in Bashkirs was 11.02% in contrast to 2.36% in Tatars and 1.61% in Russians. Allele *D of the CYP1A2 -2467delT polymorphism was associated with COPD in Tatars (OR = 1.83, 95%CI 1.24-2.71, χ2 = 9.48, P = 0.003). CYP1A2*1D was associated with an increased risk of COPD (8.65% vs. 2.36% in controls, χ2 = 9.733, P = 0.0027, Pcor = 0.008, OR = 3.908, 95% CI 1.56-10.19). Haplotype CYP1A2*1A was significantly less frequent in patients with COPD (21.05% vs. 30.74%, χ2 = 6.319, P = 0.0127, Pcor = 0.038, OR = 0.6012, 95% CI 0.402-0.898). The CYP1A1 polymorphisms were not associated with COPD in residents of Bashkortostan. ethnic group, chronic obstructive pulmonary disease, association, cytochrome P450 |