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APOL1 risk alleles among individuals with CKD in Northern Tanzania: A pilot study
INTRODUCTION: In sub-Saharan Africa, approximately 100 million people have CKD, yet genetic risk factors are not well-understood. Despite the potential importance of understanding APOL1 risk allele status among individuals with CKD, little genetic research has been conducted. Therefore, we conducted...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5521837/ https://www.ncbi.nlm.nih.gov/pubmed/28732083 http://dx.doi.org/10.1371/journal.pone.0181811 |
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author | Stanifer, John W. Karia, Francis Maro, Venance Kilonzo, Kajiru Qin, Xuejun Patel, Uptal D. Hauser, Elizabeth R. |
author_facet | Stanifer, John W. Karia, Francis Maro, Venance Kilonzo, Kajiru Qin, Xuejun Patel, Uptal D. Hauser, Elizabeth R. |
author_sort | Stanifer, John W. |
collection | PubMed |
description | INTRODUCTION: In sub-Saharan Africa, approximately 100 million people have CKD, yet genetic risk factors are not well-understood. Despite the potential importance of understanding APOL1 risk allele status among individuals with CKD, little genetic research has been conducted. Therefore, we conducted a pilot study evaluating the feasibility of and willingness to participate in genetic research on kidney disease, and we estimated APOL1 risk allele frequencies among individuals with CKD. METHODS: In 2014, we conducted a community-based field study evaluating CKD epidemiology in northern Tanzania. We assessed for CKD using urine albumin and serum creatinine to estimate GFR. We invited participants with CKD to enroll in an additional genetic study. We obtained dried-blood spots on filter cards, from which we extracted DNA using sterile punch biopsies. We genotyped for two single nucleotide polymorphisms (SNPs) defining the APOL1 G1 risk allele and an insertion/deletion polymorphism defining the G2 risk allele. Genotyping was performed in duplicate. RESULTS: We enrolled 481 participant, 57 (12%) of whom had CKD. Among these, enrollment for genotyping was high (n = 48; 84%). We extracted a median of 19.4 ng of DNA from each dried-blood spot sample, and we genotyped the two APOL1 G1 SNPs and the APOL1 G2 polymorphism. Genotyping quality was high, with all duplicated samples showing perfect concordance. The frequency of APOL1 risk variants ranged from 7.0% to 11.0%, which was similar to previously-reported frequencies from the general population of northern Tanzania (p>0.2). DISCUSSION: In individuals with CKD from northern Tanzania, we demonstrated feasibility of genotyping APOL1 risk alleles. We successfully genotyped three risk variants from DNA extracted from filter cards, and we demonstrated a high enrollment for participation. In this population, more extensive genetic studies of kidney disease may be well-received and will be feasible. |
format | Online Article Text |
id | pubmed-5521837 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-55218372017-08-07 APOL1 risk alleles among individuals with CKD in Northern Tanzania: A pilot study Stanifer, John W. Karia, Francis Maro, Venance Kilonzo, Kajiru Qin, Xuejun Patel, Uptal D. Hauser, Elizabeth R. PLoS One Research Article INTRODUCTION: In sub-Saharan Africa, approximately 100 million people have CKD, yet genetic risk factors are not well-understood. Despite the potential importance of understanding APOL1 risk allele status among individuals with CKD, little genetic research has been conducted. Therefore, we conducted a pilot study evaluating the feasibility of and willingness to participate in genetic research on kidney disease, and we estimated APOL1 risk allele frequencies among individuals with CKD. METHODS: In 2014, we conducted a community-based field study evaluating CKD epidemiology in northern Tanzania. We assessed for CKD using urine albumin and serum creatinine to estimate GFR. We invited participants with CKD to enroll in an additional genetic study. We obtained dried-blood spots on filter cards, from which we extracted DNA using sterile punch biopsies. We genotyped for two single nucleotide polymorphisms (SNPs) defining the APOL1 G1 risk allele and an insertion/deletion polymorphism defining the G2 risk allele. Genotyping was performed in duplicate. RESULTS: We enrolled 481 participant, 57 (12%) of whom had CKD. Among these, enrollment for genotyping was high (n = 48; 84%). We extracted a median of 19.4 ng of DNA from each dried-blood spot sample, and we genotyped the two APOL1 G1 SNPs and the APOL1 G2 polymorphism. Genotyping quality was high, with all duplicated samples showing perfect concordance. The frequency of APOL1 risk variants ranged from 7.0% to 11.0%, which was similar to previously-reported frequencies from the general population of northern Tanzania (p>0.2). DISCUSSION: In individuals with CKD from northern Tanzania, we demonstrated feasibility of genotyping APOL1 risk alleles. We successfully genotyped three risk variants from DNA extracted from filter cards, and we demonstrated a high enrollment for participation. In this population, more extensive genetic studies of kidney disease may be well-received and will be feasible. Public Library of Science 2017-07-21 /pmc/articles/PMC5521837/ /pubmed/28732083 http://dx.doi.org/10.1371/journal.pone.0181811 Text en © 2017 Stanifer et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Research Article Stanifer, John W. Karia, Francis Maro, Venance Kilonzo, Kajiru Qin, Xuejun Patel, Uptal D. Hauser, Elizabeth R. APOL1 risk alleles among individuals with CKD in Northern Tanzania: A pilot study |
title | APOL1 risk alleles among individuals with CKD in Northern Tanzania: A pilot study |
title_full | APOL1 risk alleles among individuals with CKD in Northern Tanzania: A pilot study |
title_fullStr | APOL1 risk alleles among individuals with CKD in Northern Tanzania: A pilot study |
title_full_unstemmed | APOL1 risk alleles among individuals with CKD in Northern Tanzania: A pilot study |
title_short | APOL1 risk alleles among individuals with CKD in Northern Tanzania: A pilot study |
title_sort | apol1 risk alleles among individuals with ckd in northern tanzania: a pilot study |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5521837/ https://www.ncbi.nlm.nih.gov/pubmed/28732083 http://dx.doi.org/10.1371/journal.pone.0181811 |
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