Sahi Puneet Kaur, Shastri Shivaram, Lodha Rakesh, Gupta Neerja, Pandey R M, Kabra Sushil Kumar, Kabra Madhulika
Departments of Pediatrics and #Biostatistics, All India Institute of Medical Sciences, New Delhi, India. Correspondence to: Dr Madhulika Kabra, Professor, Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Indian Pediatr. 2016 Mar;53(3):211-5. doi: 10.1007/s13312-016-0822-3.
The primary objective was to determine the association between beta-2 adrenergic receptor (ADRB2) gene polymorphism (rs1042713, c.46A>G, p.Arg16Gly) and the response to inhaled salbutamol in North Indian children aged 5 to 15 years, with mild to moderate exacerbation of asthma.
This cross-sectional study was done at a tertiary-care hospital in Northern India from June 2011 to May 2013. 120 children with asthma with mild to moderate exacerbation underwent spirometry at baseline and after administration of three doses of salbutamol. An increase in FEV1 =15% was considered as positive response. Blood samples from these children were analysed for ADRB2 polymorphism (p.Arg16Gly). 94 non-asthmatic adult controls were also studied to determine the prevalence of ADRB2 polymorphism.
In asthmatic children, the frequency of AA, GG, AG genotypes were 24.2%, 24.2% and 51.7% compared to 20.2%, 20.2% and 59.6%, respectively in the non-asthmatic adults. Salbutamol responsiveness showed no correlation with the studied ADRB2 polymorphism (p= 0.55). A trend towards greater bronchodilator responsiveness amongst AA genotype, compared to GG genotype was observed (Median change in percent predicted FEV1 14.5% and 7.5%, respectively).
No correlation was found between salbutamol responsiveness and ADRB2 genotype in Northern Indian children with asthma with mild-to moderate exacerbation.
主要目的是确定5至15岁患有轻至中度哮喘加重的北印度儿童中，β-2肾上腺素能受体（ADRB2）基因多态性（rs1042713，c.46A>G，p.Arg16Gly）与吸入沙丁胺醇反应之间的关联。
这项横断面研究于2011年6月至2013年5月在印度北部的一家三级护理医院进行。120名患有轻至中度哮喘加重的儿童在基线时以及给予三剂沙丁胺醇后进行了肺活量测定。FEV1增加=15%被视为阳性反应。对这些儿童的血样进行ADRB2多态性（p.Arg16Gly）分析。还研究了94名非哮喘成年对照者以确定ADRB2多态性的患病率。
在哮喘儿童中，AA、GG、AG基因型的频率分别为24.2%、24.2%和51.7%，相比之下，非哮喘成年人中分别为20.2%、20.2%和59.6%。沙丁胺醇反应性与所研究的ADRB2多态性无相关性（p = 0.55）。观察到与GG基因型相比，AA基因型中支气管扩张剂反应性有增加的趋势（预计FEV1百分比的中位数变化分别为14.5%和7.5%）。
在患有轻至中度哮喘加重的北印度哮喘儿童中，未发现沙丁胺醇反应性与ADRB2基因型之间存在相关性。
