Frequency of allele variations in the CFTR gene in a Mexican population

Abstract

Background Cystic fibrosis (CF) is an autosomal recessive disorder caused by pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CF variants incidence is highly variable and even undetermined in some countries like Mexico. Methods In this study, the allele frequencies of 361 variants in the CFTR gene were investigated in 1455 Mexicans without a CF or CFTR-related disorders (CFTR-RD) diagnosis. We also performed a statistical comparative analysis against allele frequencies of different populations to measure genetic differences in the prevalence of CFTR variants. Results In the vast majority of cases, the allele frequencies of this cohort were comparable to those found in other populations. However, some variants displayed significant differences in their allele frequencies when compared with European and African populations. Conclusions This study provides information about CFTR variants to predict the prevalence of CF in Mexico and uncover other unknown but frequent pathogenic variants in the country. Additionally, other CFTR-RD variants have also been studied using population data of the same CFTR variants. Studies like this could help develop a regional molecular diagnostic screen to optimize the medical care of CF patients.

CFTR pathogenic variants spectrum in a cohort of Mexican patients with cystic fibrosis

“…CF is an autosomal recessive disease characterized by alteration of chloride and bicarbonate transport in epithelial cells, resulting in a multiorgan disease, mainly characterized by chronic lung disease, PI, and elevated sweat chloride levels. CF is caused by the presence of PVs in CFTR [ 19 ]. To date, more than 2000 different variants have been identified, and their distribution is related to the ethnic background of the population.…”