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.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9549854 | PMC |
| http://dx.doi.org/10.1186/s12882-022-02954-w | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
African-American women have a maternal mortality rate approximately three times higher than European-American women. This is partially due to hypertensive disorders of pregnancy, including preeclampsia. Fetal high-risk genotype increases preeclampsia risk, although mechanisms remain elusive.
View Article and Find Full Text PDFCollapsing glomerulopathy associated with parvovirus B19 and systemic lupus erythematosus in a patient with APOL1 high-risk variant for nephropathy.
J Bras Nefrol
January 2025
Universidade Federal de São Paulo, Departamento de Medicina, São Paulo, SP, Brazil.
Collapsing glomerulopathy (CG) has a severe course typically associated with viral infections, especially HIV and parvovirus B19, systemic lupus erythematosus (SLE), among other etiologies. A 35-year-old woman with recent use of a JAK inhibitor due to rheumatoid arthritis presented with a 2-week history of fever, cervical adenopathy, and facial erythema. After admission, anemia, hypoalbuminemia, proteinuria, and severe acute kidney injury were noted.
View Article and Find Full Text PDFEmerging role of genetics in kidney transplantation.
Kidney Int
December 2024
Institute of Systems Genetics, New York University Langone Health, Grossman School of Medicine, New York, New York, USA. Electronic address:
The advent of more affordable genomic analytical pipelines has facilitated the expansion of genetic studies in kidney transplantation. Advances in genetic sequencing have allowed for a greater understanding of the genetic basis of chronic kidney disease, which has helped to guide transplant management and address issues related to living donation in specific disease settings. Recent efforts have shown significant effects of genetic ancestry and donor APOL1 risk genotypes in determining worse allograft outcomes and increased donation risks.
View Article and Find Full Text PDFSteroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population.
Kidney Int Rep
December 2024
Division of Molecular Medicine, University of São Paulo School of Medicine, São Paulo, Brazil.
Introduction: The profile of genetic and nongenetic factors associated with progression to kidney failure (KF) in steroid-resistant nephrotic syndrome (SRNS) is largely unknown in admixed populations.
Methods: A total of 101 pediatric patients with primary SRNS were genetically assessed targeting Mendelian causes and status with a 62-NS-gene panel or whole exome sequencing, as well as genetic ancestry. Variant pathogenicity was evaluated using the American College Medical of Genetics and Genomics (ACMG) criteria.
Minimal Change Disease and Focal Segmental Glomerulosclerosis Are Associated with Good Kidney Prognosis and Thrombotic Microangiopathy with Poor Kidney Survival in Patients with COVID-19-Associated Nephropathies.
Am J Nephrol
December 2024
Pathology Division, Federal University of Maranhão, São Luis, Brazil.
Article Synopsis
- * Among 94 patients, most were male and half had a history of hypertension; commonly observed kidney issues included collapsing glomerulopathy (CG), focal segmental glomerulosclerosis (FSGS), and thrombotic microangiopathy (TMA).
- * Results indicated that FSGS and minimal change disease (MCD) were linked to better kidney survival compared to TMA, underscoring differences in kidney complications resulting from COVID-19 within this patient group.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!