Association of M470V polymorphism of CFTR gene with variability of clinical expression of asthma: Case-report study

Publication date: Available online 27 September 2018

Source: Allergologia et Immunopathologia

Author(s): Imen Wahabi, Sondess Hadj Fredj, Malek Nefzi, Rym Dabboubi, Hajer Siala, Fatma Khalsi, Khedija Bousetta, Taieb Messaoud

Abstract

Introduction and Objectives

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. The aim of this study was to perform a comparative analysis of the genotype and allele frequency distributions of the biallelic marker M470V within the CFTR gene on mutant and wide chromosomes.

Patients and methods

The molecular approach consists in the genotyping of the M470V marker by the PCR-RFLP technique in 105 asthmatic patients, aged between four months and 17 years, and 105 healthy subjects.

Results

We found a significant difference in the genotype frequencies between the two studied groups (χ² = 9.855, P = 0.007). The V/V genotype was over represented in the asthmatic group as compared to the controls (32.38% vs. 16.19%). Whereas, the M/V genotype is more frequent in healthy subjects (40.95% vs. 28.71%). We also noted a significant difference in allelic distribution of M470V with associated diseases (χ² = 9.610, P = 0.022).

Conclusions

The present study is the first report on the distribution of the M470V polymorphism in asthmatic Tunisian patients. We noticed that the M470V variant could modulate the clinical phenotype of asthmatic patients. This preliminary study will establish the molecular basis of this disease in Tunisia.

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