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, t...
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oai:doaj.org-article:75ccd532496d47dfac545f8b9f09c2882021-11-07T12:06:39ZFrequency of allele variations in the CFTR gene in a Mexican population10.1186/s12920-021-01111-w1755-8794https://doaj.org/article/75ccd532496d47dfac545f8b9f09c2882021-11-01T00:00:00Zhttps://doi.org/10.1186/s12920-021-01111-whttps://doaj.org/toc/1755-8794Abstract 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.Consuelo Cantú-ReynaRoberto Galindo-RamírezMercedes Vázquez-CantúLorenza Haddad-TalancónWillebaldo García-MuñozBMCarticleAllele frequencyCystic fibrosisCFTR geneCF variantsCFTR-RD variantsPathogenic and likely pathogenic variantsInternal medicineRC31-1245GeneticsQH426-470ENBMC Medical Genomics, Vol 14, Iss 1, Pp 1-7 (2021) |
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DOAJ |
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DOAJ |
| language |
EN |
| topic |
Allele frequency Cystic fibrosis CFTR gene CF variants CFTR-RD variants Pathogenic and likely pathogenic variants Internal medicine RC31-1245 Genetics QH426-470 |
| spellingShingle |
Allele frequency Cystic fibrosis CFTR gene CF variants CFTR-RD variants Pathogenic and likely pathogenic variants Internal medicine RC31-1245 Genetics QH426-470 Consuelo Cantú-Reyna Roberto Galindo-Ramírez Mercedes Vázquez-Cantú Lorenza Haddad-Talancón Willebaldo García-Muñoz Frequency of allele variations in the CFTR gene in a Mexican population |
| description |
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. |
| format |
article |
| author |
Consuelo Cantú-Reyna Roberto Galindo-Ramírez Mercedes Vázquez-Cantú Lorenza Haddad-Talancón Willebaldo García-Muñoz |
| author_facet |
Consuelo Cantú-Reyna Roberto Galindo-Ramírez Mercedes Vázquez-Cantú Lorenza Haddad-Talancón Willebaldo García-Muñoz |
| author_sort |
Consuelo Cantú-Reyna |
| title |
Frequency of allele variations in the CFTR gene in a Mexican population |
| title_short |
Frequency of allele variations in the CFTR gene in a Mexican population |
| title_full |
Frequency of allele variations in the CFTR gene in a Mexican population |
| title_fullStr |
Frequency of allele variations in the CFTR gene in a Mexican population |
| title_full_unstemmed |
Frequency of allele variations in the CFTR gene in a Mexican population |
| title_sort |
frequency of allele variations in the cftr gene in a mexican population |
| publisher |
BMC |
| publishDate |
2021 |
| url |
https://doaj.org/article/75ccd532496d47dfac545f8b9f09c288 |
| work_keys_str_mv |
AT consuelocantureyna frequencyofallelevariationsinthecftrgeneinamexicanpopulation AT robertogalindoramirez frequencyofallelevariationsinthecftrgeneinamexicanpopulation AT mercedesvazquezcantu frequencyofallelevariationsinthecftrgeneinamexicanpopulation AT lorenzahaddadtalancon frequencyofallelevariationsinthecftrgeneinamexicanpopulation AT willebaldogarciamunoz frequencyofallelevariationsinthecftrgeneinamexicanpopulation |
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