Bhatnagar Pallav, Gupta Simone, Guleria Randeep, Kukreti Ritushree
GenoMed Lab, Gene Quest Laboratory, Nicholas Piramal India Ltd at the Institute of Genomics and Integrative Biology, CSIR, Delhi 110007, India.
Pharmacogenomics. 2005 Oct;6(7):713-9. doi: 10.2217/14622416.6.7.713.
The beta(2)-adrenergic receptor (ADRB2) polymorphisms are known to be functionally relevant and disease modifying in subjects with asthma. However, the association of these polymorphisms with asthma remains to be established. Our objective is to investigate the association of the ADRB2 polymorphisms and haplotypes with asthma in North Indian subjects.
A subset of 101 unrelated cases and 55 unrelated unaffected individuals were used for a case-control disease-association test.
Ten variable single nucleotide polymorphism (SNP) sites within a span of 2.193 kb were identified in the ADRB2 gene by the sequencing and genotyping of 351 bronchial asthma patients and healthy individuals. The distributions of genotype and allele frequencies for individual SNPs in the ADRB2 gene and ADRB2 haplotype frequencies were estimated in unrelated asthmatics and healthy individuals. No significant association was observed between ADRB2 genotypes and alleles with disease status after Bonferroni correction for multiple testing (reference p value = 0.0083). However, haplotype GGCTTTGCAA was found to be significantly associated with asthma (p = 0.021) in the studied population.
Our results suggest that there is likely to be a functional significance of the ADRB2 gene with asthma.
已知β₂肾上腺素能受体（ADRB2）基因多态性在哮喘患者中具有功能相关性且可改变疾病状况。然而，这些多态性与哮喘的关联仍有待确定。我们的目的是研究北印度人群中ADRB2基因多态性和单倍型与哮喘的关联。
选取101例无亲缘关系的病例和55例无亲缘关系的未患病个体作为子集进行病例对照疾病关联试验。
通过对351例支气管哮喘患者和健康个体进行测序和基因分型，在ADRB2基因中鉴定出2.193 kb范围内的10个可变单核苷酸多态性（SNP）位点。在无亲缘关系的哮喘患者和健康个体中估计了ADRB2基因中单个SNP的基因型和等位基因频率分布以及ADRB2单倍型频率。在对多重检验进行Bonferroni校正后（参考p值 = 0.0083），未观察到ADRB2基因型和等位基因与疾病状态之间存在显著关联。然而，在所研究的人群中发现单倍型GGCTTTGCAA与哮喘显著相关（p = 0.021）。
我们的结果表明ADRB2基因与哮喘可能具有功能意义。
