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

Consuelo Cantú-Reyna,Mercedes Vázquez-Cantú,Roberto Galindo-Ramírez,Willebaldo García-Muñoz,Lorenza Haddad-Talancón

doi:10.1186/s12920-021-01111-w

Abstract

BackgroundCystic 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.MethodsIn 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.ResultsIn 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.ConclusionsThis 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.

Highlights

Cystic fibrosis (CF) is an autosomal recessive disorder caused by pathogenic variants in the cystic fibro‐ sis transmembrane conductance regulator (CFTR) gene
This study offers an epidemiological outlook of CF in the Mexican population, with an accurate estimation of the frequency of several genetic variants in the Cystic fibrosis transmembrane conductance regula‐ tor (CFTR) gene
The minor allele frequencies (MAFs) calculated for the 361 studied variants are presented in Additional file 1: Table S1

Summary

Introduction

Cystic fibrosis (CF) is an autosomal recessive disorder caused by pathogenic variants in the cystic fibro‐ sis transmembrane conductance regulator (CFTR) gene. Cystic fibrosis (CF) is considered a rare disease, with an estimated prevalence of 70 to 100 thousand affected individuals worldwide. It is one of the most common autosomal recessive disorders [1]. This condition is caused by genetic variants in the CFTR gene, which encodes a protein that functions as an anionic channel involved in water and chloride ion homeostasis [2]. Which suggests the need for regional studies of molecular diagnostics screens to optimize medical care for CF patients [5, 6, 14]

Methods

Results

Discussion

Conclusion