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Vol 45(2011) N 6 p. 911-920;
A.S. Karunas1*, Y.Y. Fedorova1, G.F. Gimalova1, N.N. Ramazanova2, L.L. Gurieva2, L.A. Muchtarova2, S.Z. Zagidullin2, E.I. Etkina2, E.K. Khusnutdinova1

Genome-Wide Association Study of Bronchial Asthma in the Volga-Urals Region of Russia

1Institute of Biochemistry and Genetics, Ufa Scienific Centre, Russian Academy of Sciences, Ufa, 450054, Russian Federation Russia
2Bashkir Medical State University, Ufa, 450000, Russian Federation Russia

*carunas@list.ru
Received - 2011-05-06; Accepted - 2011-05-31

Bronchial asthma is a chronic inflammatory respiratory disease caused by a complex interaction of environmental influences and genetic susceptibility. The first genome-wide association study of bronchial asthma discovered a significant association between single nucleotide polymorphisms (SNPs) located within the genomic region 17q12-q21 and childhood bronchial asthma in individuals of European descent. This result was later replicated in a number of independent population samples of European and Asian origin. Here we report the results of the first genome-wide association study of bronchial asthma in the Volga-Urals region of Russia. The study involved 358 unrelated patients with physician-diagnosed bronchial asthma and 369 disease-free control subjects of different ethnicity (Russians, Tatars, and Bashkirs). DNA specimens were genotyped using an Illumina Human610 quad array as a part of the GABRIEL project (EC contract no.LSHB-CT-2006-018996). After QC filtering procedures, a final set of 550 915 SNPs genotyped in 330patients and 348 controls was tested for association with bronchial asthma. Five markers on chromosome 17q12-21 showed significant association with bronchial asthma (p < 4.79 10-7). The rs7216389 SNP located in GSDMB intron 1 showed the strongest evidence for association (p = 1.01 10-7). Association with childhood asthma (p = 1.97 10-6 for rs7216389) was stronger than with late-onset asthma (p = 1.8 10-4 for rs7216389). A replication study of three SNPs located within GSDMB confirmed association only with childhood asthma. In sum, these results suggest that genetic variants of 17q12-q21 play an important role in susceptibility to bronchial asthma in the Volga-Urals region of Russia.

genome-wide association study, bronchial asthma



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