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[Association between beta2-adrenergic receptor haplotype/polymorphisms and asthma phenotype]

Authors: Qiu, YY  Yin, KS 
Citation: Qiu YY and Yin KS, Zhonghua Jie He He Hu Xi Za Zhi. 2008 Mar;31(3):201-5.
Pubmed: (View Article at PubMed) PMID:18785519

OBJECTIVE: To analyze the association of single nucleotide polymorphisms (SNP)/ haplotypes of beta2-adrenergic receptor (beta2-AR) gene with bronchodilator response and total serum immunoglobulin E (IgE). METHODS: Five SNP (in positions: -47, -20, 46, 79, 252) genotypes of beta2-AR gene in 201 asthmatic patients and 276 controls were determined by direct DNA sequencing, and the haplotypes were combined from 2006 February to 2007 February. Statistical analyses were performed with SPSS 11.5 software. The genotype frequencies for each polymorphism were tested for deviation from the Hardy-Weinberg equilibrium by chi2 goodness-of-fit analysis. The frequencies of the five polymorphic genotypes were compared with chi2 test, and the degree of linkage disequilibrium occurring between these polymorphic loci were analyzed by fisher' s exact. For the comparison of quantitative traits among different genotypes/haplotypes, ANOVA was used. Least significant difference (LSD) was used if there was statistical significant. RESULTS: The bronchodilator response in patients with Argl6Argl6 was (13 +/- 4)L, significantly higher than those with Arg16Gly16 [(7 +/- 3) L and Gly16Gly16 (7 +/- 3)L, F = 81.55, P < 0.01]. When beta2-AR haplotypes were analyzed, bronchodilator response was highest in patients with haplotype Arg16Gln27/Arg16Gln27 [(13.4 +/- 3.5) L], compared to that with Gly16Gln27/Gly16Gln27 [(6.4 +/- 0.6) L], Gly16Glu27/Gly16Glu27 [(7.6 +/- 3.1)L], Gly16Gln27/Gly16Glu27 [(6.9 +/- 3.5)L], Gly16Gln27/Arg16Gln27 [(7.2 +/- 3.3) L, and Gly16Glu27/Arg16Gln27 (7.9 +/- 2.7) L, F = 32.55, P < 0.01]. The total IgE level was (2.51 +/- 0.33) IU/L in patients with genotype Gln27Gln27, significantly higher than that with Gln27Glu27 [(2.30 +/- 0.82) IU/L, F = 3.89, P < 0.05]. The total IgE level was significantly lowest in patients with haplotype Gly16Gln27/Arg16Gln27 (2.13 +/- 0.15) IU/L, compared to that with Arg16Gln27/Arg16Gln27 (2.56 +/- 0.14) IU/L, Gly16Glu27/Gly16Glu27 (2.40 +/- 0.16) IU/L, Gly16Gln27/Gly16Glu27 (2.54 +/- 1.26) IU/L, Gly16Gln27/Arg16Gln27 [(2.48 +/- 0.48) IU/L, F = 3.56, P < 0.01]. CONCLUSIONS: These results indicate that depending on phenotypes studied, either an individual beta2-AR SNP or haplotype might affect disease manifestations.

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CRRD Object Information
CRRD ID: 4145094
Created: 2010-10-25
Species: All species
Last Modified: 2010-10-25
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.