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- W2012188850 abstract "Background: Asthma is a complex genetic disorder. Several genes have been found associated with asthma. The cystic fibrosis transmembrane conductance regulator (CFTR) gene is one of them.Aim: To assess the association of CFTR gene mutation with asthma and its severity as per GINA guidelines.Subjects and methods: This was a hospital-based case-control study. Excluded from cases and controls were those with clinically suspected cystic fibrosis or sweat chloride level>60 mmol/L or suffering from other respiratory diseases. Included were 200 cases and 180 controls, aged 5 months to 15 years. Screening was done for CFTR gene mutations; ΔF508, G542X, G551D, R117H and W1282X using the ARMS-PCR method.Results: ΔF508 was found in three (1.5%) cases and two (1.1%) controls (p = 0.739), G542X in nine (4.5%) cases and five (2.8%) controls (p = 0.374), R117H in one (0.5%) case and one (0.6%) control (p = 0.940) and G551D in twelve (6.0%) cases and two (1.1%) controls (p = 0.012). Individuals carrier for G551D mutation had increased risk for persistent asthma (p = 0.006). Percent predicted FEV1 (p = 0.014) and FVC (p = 0.028) were significantly lower among carriers as compared to non-carriers.Conclusion: Significantly higher frequency of G551D mutation among asthma patients compared with controls suggests that this mutation may increase risk for the disease and also its severity." @default.
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- W2012188850 date "2012-02-13" @default.
- W2012188850 modified "2023-10-16" @default.
- W2012188850 title "Association of CFTR gene mutation with bronchial asthma and its severity in Indian children: A case-control study" @default.
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- W2012188850 doi "https://doi.org/10.3109/03014460.2011.652169" @default.
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