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Volume 8, Issue 3(Suppl) J Allergy Ther, an open access journal
ISSN: 2155-6121 Allergy-Clinical Immunology 2017
September 07-08, 2017
September 07-08, 2017 | Edinburgh, Scotland
ALLERGY, ASTHMA & CLINICAL IMMUNOLOGY
11th International Conference on
The clinical importance of genetic diversity of the β2-adrenergic receptor gene assessed by mapping
of the encoding region and by single-based polymorphisms present in a Brazilian population
Luiz Werber-Bandeira and Aldaberto Santos
General Hospital-Santa Casa da Misericordia, Brazil
Background: The gene encoding the adrenergic β2 receptor (ADRβ2) located on chromosome 5q31-32 presents a high allelic
diversity characterized by the presence of several single nucleotide polymorphisms (SNPs) associated with different receptor
activities at the cellular levels. 45 SNPs have been identified along this gene, some with significant effect on clinical response to
β2-agonists. The allelic distribution varies with ethnicity and due to alterations in sensitization and down regulation of these
receptors. The existing studies refer to ethnically homogeneous populations, with no data on the distribution of these SNPs in
ethnically mixed populations, although certain haplotypes appear to directly affect receptor function.
Objective: The objective of this study was to determine the prevalence of previously described SNPs in the coding region of the
ADRβ2 gene, as well as to identify new SNPs in a group of individuals living in Rio de Janeiro through sequencing technique.
Patients & Methods: DNA samples from 162 individuals were subjected to PCR amplification and genotyping by sequencing.
Results: Analysis of the sequences generated identified the presence of nine different SNPs 46 (G>A), 66 (C>T), 79 (C>G),
252 (G>A), 455 (T>G), 470 (T>G), 491 C>T, 523 (C>A) e 579 (C>T) within the sequenced region (899 bp), from which, three:
455 (T>G), 470 (T>G), and 579 (C>T) were not yet described, and the characterization of 14 different haplotypes. The SNPs
in codons 27 and 164, two of the most studied, showed different frequencies from those observed in other populations. The
SNP in codon 27 was: 8.1% versus 24% in Caucasian-Americans and versus 18.7% in African-Americans. The SNP in codon
164 was: 4.6% versus 1% in Caucasian-Americans and versus 2% African-Americans. The SNP at codon 16, Arg16Gly, showed
similar frequency to the one found in the literature in Caucasians and Chinese ethnicity: 54.9% vs. 39%, and 42% and 51%
respectively.
Conclusion: The results of this study, although represent a partial mapping of the coding region of the ADRβ2 gene,
demonstrated the diversity of this gene, of great clinical importance. The results represent the first data on the partial mapping
of the gene ADRβ2 in an ethnically mixed population.
Biography
Luiz Werber-Bandeira is the Head of Clinical and Experimental Immunology Unit - Santa Casa de Misericórdia do Rio de Janeiro, Brazil. He has a degree in
Medicine; completed his Post-doctorate in Immuno-Genetics and; PhD in Medicine-Immunology-Dermatology at Federal University of Rio de Janeiro. He is also
specialized in Clinical Immunology-Allergy at Federal University of Rio de Janeiro. He is Reorganizer of the Clinical and Experimental Immunology Unit - Santa
Casa da Misericórdia, Rio de Janeiro.
Luiz Werber-Bandeira et al., J Allergy Ther 2017, 8:3(Suppl)
DOI: 10.4172/2155-6121-C1-006