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Relationship between polymorphisms in the 5′ leader cistron, positions 16 and 27 of the adrenergic β2 receptor gene and asthma in a Han population from southwest China
Author(s) -
FU WEIPING,
ZHAO ZHIHUAN,
ZHONG LI,
SUN CHANG,
FANG LIZHOU,
LIU LING,
ZHANG JIANQING,
WANG LEI,
SHU JINGKUI,
WANG XUMING,
DAI LUMING
Publication year - 2011
Publication title -
respirology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.857
H-Index - 85
eISSN - 1440-1843
pISSN - 1323-7799
DOI - 10.1111/j.1440-1843.2011.02028.x
Subject(s) - medicine , odds ratio , asthma , haplotype , genotype , bronchodilator , allele , confidence interval , polymorphism (computer science) , gastroenterology , population , β2 adrenergic receptor , genetics , gene , receptor , biology , agonist , environmental health
Background and objective: Adrenergic β2 receptors (ADRB2) play an important role in regulating pulmonary function. Many previous studies have investigated possible associations between polymorphisms in the ADRB2 gene and asthma, but have yielded conflicting results. Furthermore, little is known regarding the possible role of the Arg19Cys polymorphism in susceptibility to asthma among Chinese. Methods: This case–control association study involved 238 patients with asthma and 265 healthy subjects from a Han population in southwest China. For all subjects, the 5′ leader cistron Arg19Cys, Arg16Gly and Gln27Glu polymorphisms in the ADRB2 gene were characterized by direct sequencing. Genotype, allele and haplotype frequencies were determined. In addition, to evaluate the association between the ADRB2 polymorphisms and lung function, bronchodilator response to inhaled β2 agonists (400 µg of albuterol) was assessed in the asthmatic patients. Results: There were no significant differences in genotype or allele frequencies for the three ADRB2 polymorphisms between the two cohorts. The Arg19/Arg16/Gln27 haplotype was more frequent among asthmatic patients than control subjects (odds ratio 2.24, 95% confidence interval (CI): 1.05–4.73, P = 0.04). Moreover, the Arg19/Cys19 genotype was associated with a lower FEV 1 % (mean difference −4.5, 95% CI: −12.5 to 3.6, P = 0.02) and FEV 1 /FVC (mean difference 8.9, 95% CI: 8.5–9.4, P = 0.01). The bronchodilator response to albuterol was also marginally lower in individuals who were homozygous for the Arg19 genotype (mean difference 4.2, 95% CI: 3.7–4.8, P = 0.03). Conclusions: The Arg19/Cys19 genotype was an independent risk factor for lower FEV 1 % and FEV 1 /FVC. Asthmatic patients with the Arg19/Arg19 genotype showed decreased responsiveness to albuterol. Furthermore, the Arg19/Arg16/Gln27 haplotype may contribute to increased susceptibility to asthma in the Chinese population.