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首页> 外文期刊>Indian journal of medical sciences. >ASSOCIATION OF CORTICOTROPHIN RELEASING HORMONE RECEPTOR 1 GENE POLYMORPHISMS (RS242941 AND RS242939) WITH PERSISTENT ASTHMA AND ITS PHENOTYPE IN NORTHERN INDIAN ASTHMATIC CHILDREN: A CROSS?SECTIONAL STUDY
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ASSOCIATION OF CORTICOTROPHIN RELEASING HORMONE RECEPTOR 1 GENE POLYMORPHISMS (RS242941 AND RS242939) WITH PERSISTENT ASTHMA AND ITS PHENOTYPE IN NORTHERN INDIAN ASTHMATIC CHILDREN: A CROSS?SECTIONAL STUDY

机译：北印度裔哮喘儿童中促肾上腺皮质激素释放激素受体1基因多态性（RS242941和RS242939）与持久性哮喘及其表型的关联：横断面研究

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INTRODUCTION: Asthma is a common, chronic, relapsing disease in children. Corticotrophin?releasing hormone?receptor 1 (CRHR1) gene is identified as a potential marker for steroid responsiveness. Genetic variations in CRHR1?are expected to diminish the capacity to secrete endogenous cortisol. OBJECTIVE: This study aimed to find out?association of CRHR1 gene polymorphisms namely, rs242941 (G > T) and rs242939 (A > G) with persistent asthma?and its phenotype in Northern Indian asthmatic children. MATERIALS AND METHODS: This was a hospital?based?cross?sectional study. Genotyping was done for 250 asthmatic children, aged 1?12 years, using polymerase chain?reaction restriction fragment length polymorphisms method. RESULTS: Mutant homozygous genotype (TT) and?mutant allele (T) of single nucleotide polymorphism (SNP) rs242941 were found to be associated with increased?risk for persistent asthma (odds ratio [OR] =4.2; 95% confidence interval [CI] =1.6?10.9; P = 0.00 and OR = 1.8;?95% CI = 1.2?2.8; P = 0.00, respectively). On analyzing genotypic and phenotypic associations, factors such?as urban residence (OR = 2.01; 95% CI = 1.11?3.63; P = 0.01), family history of asthma (OR = 1.80; 95% CI?= 1.00?3.24; P = 0.05), previous hospitalization (OR = 2.12; 95% CI = 1.14?3.96; P = 0.01), previous use of?bronchodilators (OR = 3.64; 95% CI = 1.68?7.94; P = 0.00), previous use of inhaled corticosteroids (OR = 2.37;?95% CI = 1.15?4.93; P = 0.01), visit to doctor in last 1 year (OR = 1.82; 95% CI = 1.01?3.28; P = 0.04), seasonal?variation in exacerbation (OR = 2.66; 95% CI = 1.16?6.12; P = 0.01), and lower pulmonary functions ( P = 0.00)?were found to be associated with SNP rs242941. Genotypes of SNP rs242939 showed no association with persistent?asthma and its phenotype. Minor allele frequency for SNP rs242941 and SNP rs242939 was 43.20% and 11.00%,?respectively, in Northern Indian asthmatic children. CONCLUSION: In conclusion, we observed an association of?SNP rs242941 with persistent asthma and its phenotype in Northern Indian asthmatic children.
机译：简介：哮喘是儿童常见的慢性复发性疾病。促肾上腺皮质激素释放激素受体1（CRHR1）基因被确定为类固醇反应的潜在标志。预期CRHR1？的遗传变异会降低分泌内源性皮质醇的能力。目的：本研究旨在发现印度北部哮喘儿童CRHR1基因多态性，即rs242941（G> T）和rs242939（A> G）与持续性哮喘的相关性及其表型。材料与方法：这是一项基于医院的横断面研究。采用聚合酶链反应限制性片段长度多态性方法对250例1〜12岁的哮喘儿童进行基因分型。结果：单核苷酸多态性（SNP）rs242941的突变纯合基因型（TT）和突变等位基因（T）与持续性哮喘的风险增加相关（赔率[OR] = 4.2; 95％可信区间[CI] ] ＝1.6≤10.9; P ＝ 0.00和OR ＝ 1.8;≤95％CI ＝1.2≤2.8; P ＝ 0.00。在分析基因型和表型相关性时，城市居住因素（OR = 2.01; 95％CI = 1.11？3.63; P = 0.01），哮喘家族史（OR = 1.80; 95％CI？= 1.00？3.24; P = 0.05），先前住院（OR = 2.12; 95％CI = 1.14？3.96; P = 0.01），先前使用过支气管扩张药（OR = 3.64; 95％CI = 1.68？7.94; P = 0.00），先前使用过吸入皮质类固醇（OR = 2.37;？95％CI = 1.15？4.93; P = 0.01），最近1年就诊（OR = 1.82; 95％CI = 1.01？3.28; P = 0.04），季节性变化病情恶化（OR = 2.66; 95％CI = 1.16？6.12; P = 0.01）和较低的肺功能（P = 0.00）与SNP rs242941有关。 SNP rs242939的基因型与持续性哮喘及其表型无关。在北部印度裔哮喘儿童中，SNP rs242941和SNP rs242939的次要等位基因频率分别为43.20％和11.00％。结论：总的来说，我们观察到在北部印度裔哮喘儿童中，？SNP rs242941与持续性哮喘及其表型有关。

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