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Vol 44(2010) N 1 p. 28-36;
G.F. Korytina1*, L.Z. Akhmadishina1, T.V. Viktorova1,2

Frequencies of CYP1B1 and CYP2F1 Polymorphic Variants in Three Ethnic Groups of Bashkortostan and in Patients with Chronic Obstructive Pulmonary Disease

1Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences, Ufa, 450054
2Bashkir State Medical University, Ufa, 450000


*guly_kory@mail.ru
Received - 2009-05-05; Accepted - 2009-07-22

Chronic obstructive pulmonary disease (COPD) is a multifactorial respiratory disorder. Members of the cytochrome P450 family catalyze oxidative metabolism of exogenous chemicals and activate their substrates into reactive intermediates that may initiate lung injury. The frequencies of CYP1B1 and CYP2F1 polymorphic markers were determined in healthy people from Bashkortostan and tested for association with COPD. Using PCR-RFLP, the polymorphic markers Leu432Val (CYP1B1) and c.14_15insC (CYP2F1) were studied in healthy Russians (N = 191), Tatars (N = 198), and Bashkirs (N = 78) and in Russian (N = 169) and Tatar (N = 137) COPD patients. The CYP2F1 genotype frequency distribution proved to differ between the three ethnic groups (χ2 = 21.29, d.f. = 4, P = 0.0001), Tatars having a higher frequency of the c.14_15insC/c.14_15insC genotype (6.38%). The highest frequency (39.74%) of the heterozygous /c.14_15insC genotype was observed in Bashkirs. The frequency of the insertion-free CYP2F1 variant in Tatars with extremely severe COPD and onset after 55 years of age was significantly higher (87.5%) than in patients of the same age group with moderate or severe COPD (87.50% vs. 75.53%, χ2 = 3.964, d.f. = 1, P = 0.046; OR = 2.268). The allele and genotype frequency distributions of the CYP1B1 Leu432Val polymorphism were similar in the Russian, Tatar, and Bashkir ethnic groups. Leu432Val of CYP1B1 was not associated with COPD.

ethnogenomics, chronic obstructive pulmonary disease, association study, cytochrome P450, genetic polymorphism



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