Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress 2023 EHA Congress 2023 ASCO Annual Meeting
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on sleep in brain health

LIVE: Thursday 2nd May 2024, 18:00-19:30 (CEST)

Quality sleep is essential for health. But what happens to our brains when sleep patterns are disturbed? Join our experts to explore the interplay between sleep disruption and neurological diseases, and the questions that you need to be asking your patients to help you prevent the harmful effects of sleep deprivation.
ADVANCED SEARCH
Log in
Top
BMC Nephrology
Published in: BMC Nephrology 1/2022

Open Access 01-12-2022 | Research

APOL1 genotyping via buccal mucosa cell samples to establish risk of kidney disease

Authors: Dona Jeanne Alladagbin, Carlos Gustavo Regis da Silva, Luciano Kalabric Silva, Washington LC dos-Santos, Geraldo Gileno de Sá Oliveira

Published in: BMC Nephrology | Issue 1/2022

Login to get access

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.
Appendix
Available only for authorised users
Literature
1.
Duchateau PN, Pullinger CR, Orellana RE, Kunitake ST, Naya-Vigne J, O’Connor PM, Malloy MJ, Kane JP. Apolipoprotein L, a new human high density lipoprotein apolipoprotein expressed by the pancreas. Identification, cloning, characterization, and plasma distribution of apolipoprotein L. J Biol Chem. 1997;272(41):25576–82.CrossRef
2.
Vanhamme L, Paturiaux-Hanocq F, Poelvoorde P, Nolan DP, Lins L, Van Den Abbeele J, Pays A, Tebabi P, Van Xong H, Jacquet A, et al. Apolipoprotein L-I is the trypanosome lytic factor of human serum. Nature. 2003;422(6927):83–7.CrossRef
3.
Limou S, Nelson GW, Kopp JB, Winkler CA. APOL1 kidney risk alleles: population genetics and disease associations. Adv Chronic Kidney Dis. 2014;21(5):426–33.CrossRef
4.
Page NM, Butlin DJ, Lomthaisong K, Lowry PJ. The human apolipoprotein L gene cluster: identification, classification, and sites of distribution. Genomics. 2001;74(1):71–8.CrossRef
5.
Madhavan SM, Buck M: The relationship between APOL1 structure and function: Clinical implications. Kidney360 2021, 2(1):134–140.
6.
Friedman DJ, Pollak MR. APOL1 Nephropathy: From Genetics to Clinical Applications. Clin J Am Soc Nephrol. 2021;16(2):294–303.CrossRef
7.
Ko WY, Rajan P, Gomez F, Scheinfeldt L, An P, Winkler CA, Froment A, Nyambo TB, Omar SA, Wambebe C, et al. Identifying Darwinian selection acting on different human APOL1 variants among diverse African populations. Am J Hum Genet. 2013;93(1):54–66.CrossRef
8.
https://www.youtube.com/watch?v=_zt7PF_ZQhw.
9.
Alladagbin DJ, Fernandes PN, Tavares MB, Brito JT, Oliveira GGS, Silva LK, Khouri NA, Oliveira MB, Amorim T, Matos CM, et al. The sickle cell trait and end stage renal disease in Salvador, Brazil. PLoS ONE. 2018;13(12):e0209036.CrossRef
10.
11.
White SJ, Cantsilieris S. Genotyping: methods and protocols. Humana Press; 2016.
12.
13.
Rudney J, Chen R. The vital status of human buccal epithelial cells and the bacteria associated with them. Arch Oral Biol. 2006;51(4):291–8.CrossRef
14.
Montgomery MC, Petraroia R, Weimer ET. Buccal swab genomic DNA fragmentation predicts likelihood of successful HLA genotyping by next-generation sequencing. Hum Immunol. 2017;78(10):634–41.CrossRef
15.
Minucci A, Canu G, Concolino P, Guarino D, Boccia S, Ficarra S, Zuppi C, Giardina B, Capoluongo E. DNA from buccal swab is suitable for rapid genotyping of angiotensin-converting enzyme insertion/deletion (I/D) polymorphism. Clin Chim Acta. 2014;431:125–30.CrossRef
Metadata
Title
APOL1 genotyping via buccal mucosa cell samples to establish risk of kidney disease
Authors
Dona Jeanne Alladagbin
Carlos Gustavo Regis da Silva
Luciano Kalabric Silva
Washington LC dos-Santos
Geraldo Gileno de Sá Oliveira
Publication date
01-12-2022
Publisher
BioMed Central
Published in
BMC Nephrology / Issue 1/2022
Electronic ISSN: 1471-2369
DOI
https://doi.org/10.1186/s12882-022-02954-w

Other articles of this Issue 1/2022

BMC Nephrology 1/2022 Go to the issue

Research

Endocapillary hypercellularity levels are associated with early complete remission in children with class IV lupus nephritis as the initial presentation of SLE

Research article

Prognostic value of the combination of neutrophil-to-lymphocyte ratio, monocyte-to-lymphocyte ratio and platelet-to-lymphocyte ratio on mortality in patients on maintenance hemodialysis

Research

METTL3 enhances NSD2 mRNA stability to reduce renal impairment and interstitial fibrosis in mice with diabetic nephropathy

Research

Can residual kidney function affect quality of life and cognitive function in hemodialysis patients?

Research

Unmet needs about iron deficiency in peritoneal dialysis: a Delphi consensus panel

Research

Recanalization of thrombosed aneurysmal hemodialysis arterovenous fistulas using a hybrid technique based on data from a single center

ACC 2024 Congress Coverage

Cardiology Video

Highlights from the ACC 2024 Congress

Watch now

Watch official videos from the ACC congress summarizing key highlights from the last year in heart failure, cardiomyopathies, valvular disease, pulmonary vascular disease, and pediatric cardiology.

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

16-04-2024 Type 2 Diabetes News

Incentivised to exercise

11-04-2024 Lifestyle Modifications News

New intervention for STEMI-related cardiogenic shock

10-04-2024 Myocardial Infarction News

» View more highlights on the ACC 2024 congress hub page

Image Credits