APOL1 genotyping via buccal mucosa cell samples to establish risk of kidney disease
Abstract Two alleles (G1 and G2) of the apolipoprotein 1 gene (APOL1) predispose people of African descent to developing or accelerating the course of certain types of kidney disease. Population studies to determine the frequency of the G1 and G2 alleles are important to inform resource allocation b...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2022-10-01
|
| Series: | BMC Nephrology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12882-022-02954-w |
| _version_ | 1817983857393139712 |
|---|---|
| author | Dona Jeanne Alladagbin Carlos Gustavo Regis da Silva Luciano Kalabric Silva Washington LC dos-Santos Geraldo Gileno de Sá Oliveira |
| author_facet | Dona Jeanne Alladagbin Carlos Gustavo Regis da Silva Luciano Kalabric Silva Washington LC dos-Santos Geraldo Gileno de Sá Oliveira |
| author_sort | Dona Jeanne Alladagbin |
| collection | DOAJ |
| description | Abstract Two alleles (G1 and G2) of the apolipoprotein 1 gene (APOL1) predispose people of African descent to developing or accelerating the course of certain types of kidney disease. Population studies to determine the frequency of the G1 and G2 alleles are important to inform resource allocation by public health authorities. Traditionally, APOL1 genotyping is carried out in blood samples. However, sample collection, transport, and storage is cumbersome. Here we compared APOL1 genotyping in blood and buccal mucosa cell samples obtained from 23 individuals. Alleles G0 (wild), G1, and G2, as well as genotypes G0/G0, G0/G1, G1/G1, G0/G2, G1/G2, and G2/G2 were detected using both blood and buccal mucosa cells with 100% coincidence. Our data indicate that buccal mucosa cell samples may represent a suitable alternative to blood samples for APOL1 genotyping in the field. |
| first_indexed | 2024-04-13T23:38:06Z |
| format | Article |
| id | doaj.art-78d18160d54e4db691ca5c7532001aa0 |
| institution | Directory Open Access Journal |
| issn | 1471-2369 |
| language | English |
| last_indexed | 2024-04-13T23:38:06Z |
| publishDate | 2022-10-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Nephrology |
| spelling | doaj.art-78d18160d54e4db691ca5c7532001aa02022-12-22T02:24:38ZengBMCBMC Nephrology1471-23692022-10-012311610.1186/s12882-022-02954-wAPOL1 genotyping via buccal mucosa cell samples to establish risk of kidney diseaseDona Jeanne Alladagbin0Carlos Gustavo Regis da Silva1Luciano Kalabric Silva2Washington LC dos-Santos3Geraldo Gileno de Sá Oliveira4Fundação Oswaldo Cruz, Laboratory of Molecular and Strutural Pathology (LAPEM), Gonçalo Moniz Institute, FIOCRUZ-BAFundação Oswaldo Cruz, Laboratory of Molecular and Strutural Pathology (LAPEM), Gonçalo Moniz Institute, FIOCRUZ-BAFundação Oswaldo Cruz, Laboratory of Molecular and Strutural Pathology (LAPEM), Gonçalo Moniz Institute, FIOCRUZ-BAFundação Oswaldo Cruz, Laboratory of Molecular and Strutural Pathology (LAPEM), Gonçalo Moniz Institute, FIOCRUZ-BAFundação Oswaldo Cruz, Laboratory of Molecular and Strutural Pathology (LAPEM), Gonçalo Moniz Institute, FIOCRUZ-BAAbstract Two alleles (G1 and G2) of the apolipoprotein 1 gene (APOL1) predispose people of African descent to developing or accelerating the course of certain types of kidney disease. Population studies to determine the frequency of the G1 and G2 alleles are important to inform resource allocation by public health authorities. Traditionally, APOL1 genotyping is carried out in blood samples. However, sample collection, transport, and storage is cumbersome. Here we compared APOL1 genotyping in blood and buccal mucosa cell samples obtained from 23 individuals. Alleles G0 (wild), G1, and G2, as well as genotypes G0/G0, G0/G1, G1/G1, G0/G2, G1/G2, and G2/G2 were detected using both blood and buccal mucosa cells with 100% coincidence. Our data indicate that buccal mucosa cell samples may represent a suitable alternative to blood samples for APOL1 genotyping in the field.https://doi.org/10.1186/s12882-022-02954-wBuccal mucosa cellsBloodPCRDNA sequencingApolipoprotein LHaplotypes |
| spellingShingle | Dona Jeanne Alladagbin Carlos Gustavo Regis da Silva Luciano Kalabric Silva Washington LC dos-Santos Geraldo Gileno de Sá Oliveira APOL1 genotyping via buccal mucosa cell samples to establish risk of kidney disease BMC Nephrology Buccal mucosa cells Blood PCR DNA sequencing Apolipoprotein L Haplotypes |
| title | APOL1 genotyping via buccal mucosa cell samples to establish risk of kidney disease |
| title_full | APOL1 genotyping via buccal mucosa cell samples to establish risk of kidney disease |
| title_fullStr | APOL1 genotyping via buccal mucosa cell samples to establish risk of kidney disease |
| title_full_unstemmed | APOL1 genotyping via buccal mucosa cell samples to establish risk of kidney disease |
| title_short | APOL1 genotyping via buccal mucosa cell samples to establish risk of kidney disease |
| title_sort | apol1 genotyping via buccal mucosa cell samples to establish risk of kidney disease |
| topic | Buccal mucosa cells Blood PCR DNA sequencing Apolipoprotein L Haplotypes |
| url | https://doi.org/10.1186/s12882-022-02954-w |
| work_keys_str_mv | AT donajeannealladagbin apol1genotypingviabuccalmucosacellsamplestoestablishriskofkidneydisease AT carlosgustavoregisdasilva apol1genotypingviabuccalmucosacellsamplestoestablishriskofkidneydisease AT lucianokalabricsilva apol1genotypingviabuccalmucosacellsamplestoestablishriskofkidneydisease AT washingtonlcdossantos apol1genotypingviabuccalmucosacellsamplestoestablishriskofkidneydisease AT geraldogilenodesaoliveira apol1genotypingviabuccalmucosacellsamplestoestablishriskofkidneydisease |