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Asthma is a common, chronic, relapsing disease in children. Corticotrophinâ€‘releasing hormoneÂ receptor 1 (CRHR1) gene is identified as a potential marker for steroid responsiveness. Genetic variations in CRHR1Â are expected to diminish the capacity to secrete endogenous cortisol. OBJECTIVE: This study aimed to find outÂ association of CRHR1 gene polymorphisms namely, rs242941 (G > T) and rs242939 (A > G) with persistent asthmaÂ and its phenotype in Northern Indian asthmatic children. MATERIALS AND METHODS: This was a hospitalâ€‘basedÂ crossâ€‘sectional study. Genotyping was done for 250 asthmatic children, aged 1â€‘12 years, using polymerase chainÂ reaction restriction fragment length polymorphisms method. RESULTS: Mutant homozygous genotype (TT) andÂ mutant allele (T) of single nucleotide polymorphism (SNP) rs242941 were found to be associated with increasedÂ risk for persistent asthma (odds ratio [OR] =4.2; 95% confidence interval [CI] =1.6â€‘10.9; P = 0.00 and OR = 1.8;Â 95% CI = 1.2â€‘2.8; P = 0.00, respectively). On analyzing genotypic and phenotypic associations, factors suchÂ as urban residence (OR = 2.01; 95% CI = 1.11â€‘3.63; P = 0.01), family history of asthma (OR = 1.80; 95% CIÂ = 1.00â€‘3.24; P = 0.05), previous hospitalization (OR = 2.12; 95% CI = 1.14â€‘3.96; P = 0.01), previous use ofÂ bronchodilators (OR = 3.64; 95% CI = 1.68â€‘7.94; P = 0.00), previous use of inhaled corticosteroids (OR = 2.37;Â 95% CI = 1.15â€‘4.93; P = 0.01), visit to doctor in last 1 year (OR = 1.82; 95% CI = 1.01â€‘3.28; P = 0.04), seasonalÂ variation in exacerbation (OR = 2.66; 95% CI = 1.16â€‘6.12; P = 0.01), and lower pulmonary functions ( P = 0.00)Â were found to be associated with SNP rs242941. Genotypes of SNP rs242939 showed no association with persistentÂ asthma and its phenotype. Minor allele frequency for SNP rs242941 and SNP rs242939 was 43.20% and 11.00%,Â respectively, in Northern Indian asthmatic children. CONCLUSION: In conclusion, we observed an association ofÂ SNP rs242941 with persistent asthma and its phenotype in Northern Indian asthmatic children.Â

indian journal of medical sciences/indian journal of medical sciences (print)

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