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CFTR Gene Mutations and Asthma in Indian Children: A Case-Control Study
Pratibha Dixit1, Shally Awasthi1, Nutan Maurya1
1Department of Pediatrics and Translational Medicine Unit, King George's Medical University, Lucknow, India.
Indian Journal of Clinical Biochemistry : IJCB
|February 4, 2015
Summary
The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) R553X mutation was not significantly associated with asthma in Indian children. Lung function was lower in carriers, but this did not reach statistical significance for disease association.
Area of Science:
- Genetics
- Pulmonology
- Molecular Biology
Background:
- The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene is implicated as an asthma susceptibility gene.
- Genetic variations in CFTR may influence asthma risk and severity.
Purpose of the Study:
- To investigate the association of CFTR gene mutations with asthma in Indian children.
- To compare CFTR mutation frequencies between asthmatic children and healthy controls.
Main Methods:
- Genotyping of 24 CFTR gene mutations using ARMS-PCR and PCR-RFLP.
- Study included 250 asthmatic children and 250 age/sex-matched controls.
- Analysis of genotype and allele frequencies, and lung function parameters (FVC, FEV1/FVC ratio).
Main Results:
- The heterozygous R553X mutation was found in 1.6% of asthmatic cases and 0.8% of controls.
- Heterozygous individuals showed significantly lower FVC and FEV1/FVC ratio (p < 0.05).
- No significant difference in R553X genotype or allele frequency between cases and controls (OR = 1.339, p = 0.685).
Conclusions:
- The R553X mutation is not significantly associated with asthma in the studied Indian pediatric population.
- While carrying the R553X mutation may affect lung function, it does not appear to be a major genetic risk factor for asthma in this cohort.
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