Association of CFTR gene mutation with bronchial asthma and its severity in Indian children: A case-control study

作者：Awasthi Shally^*; Maurya Nutan; Agarwal Sarita; Dixit Pratibha; Muthuswamy Srinivasan; Singh Shweta

来源：Annals of Human Biology, 2012, 39(2): 113-121.

DOI：10.3109/03014460.2011.652169

• Bronchial asthma
• persistent
• severity
• CFTR mutation
• carrier

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; Delta F508, G542X, G551D, R117H and W1282X using the ARMS-PCR method.
Results: Delta F508 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.

• 出版日期2012-3
• 单位河北医科大学