Precision medicine implementation challenges for APOL1 testing in chronic kidney disease in admixed populations

Abstract

Chronic Kidney Disease (CKD) is a public health problem that presents genetic and environmental risk factors. Two alleles in the Apolipoprotein L1 (APOL1) gene were associated with chronic kidney disease; these alleles are common in individuals of African ancestry but rare in European descendants. Genomic studies on Afro-Americans have indicated a higher prevalence and severity of chronic kidney disease in people of African ancestry when compared to other ethnic groups. However, estimates in low- and middle-income countries are still limited. Precision medicine approaches could improve clinical outcomes in carriers of risk alleles in the Apolipoprotein L1 gene through early diagnosis and specific therapies. Nevertheless, to enhance the definition of studies on these variants, it would be necessary to include individuals with different ancestry profiles in the sample, such as Latinos, African Americans, and Indigenous peoples. There is evidence that measuring genetic ancestry improves clinical care for admixed people. For chronic kidney disease, this knowledge could help establish public health strategies for monitoring patients and understanding the impact of the Apolipoprotein L1 genetic variants in admixed populations. Therefore, researchers need to develop resources, methodologies, and incentives for vulnerable and disadvantaged communities, to develop and implement precision medicine strategies and contribute to consolidating diversity in science and precision medicine in clinical practice.

From designing minimum data set to developing kidney transplantation registry in Iran

“…Therefore, the use of well-defined standard minimum data makes data concepts in different systems have similar meanings. [ 22 ] In the absence or availability of desirable international standard data elements, registry stakeholders should consider local rules and standards in order to determine data elements. In this case, they should consider the possibility of converting and merging data outside the database to compare the minimum data set in several countries as a requirement.…”

Eliminating hypertension disparities in U.S. non-Hispanic black adults: current and emerging interventions

“…The new recommended CKD-EPI equation removes the prior 16% higher glomerular filtration rate (GFR) standard for NHB adults and may lead to earlier diagnosis and treatment for NHB adults with CKD, perhaps mitigating disease progression, cost, and disparate outcomes [11 & ]. The apolipoprotein L1 (APOL1) gene, common in individuals of African ancestry, may be a CKD risk factor in U.S. NHB patients [12]. Considering that NHB Americans represent an admixed population, disparities will not be simply overcome by genetic profiling, as the adverse effects of hypertension on CVD and CKD are mainly due to diet, lifestyle, and SDOH.…”

“…The apolipoprotein L1 ( APOL1 ) gene, common in individuals of African ancestry, may be a CKD risk factor in U.S. NHB patients [12]. Considering that NHB Americans represent an admixed population, disparities will not be simply overcome by genetic profiling, as the adverse effects of hypertension on CVD and CKD are mainly due to diet, lifestyle, and SDOH.…”

Glomerulopatia colapsante idiopática: bases moleculares e correlações entre parâmetros moleculares, proteômicos, clínicos e histológicos

“…Apesar da estreita relação entre a presença de GAR com progressão de doença renal crônica, GESF e GC em pacientes afro-americanos ou regiões com alta prevalência de ancestralidade genômica africana, a miscigenação ocorrida no Brasil não permite a avaliação de risco associada a APOL1 apenas através da raça autodeclarada. 100,101 De fato, no Brasil indivíduos autodeclarados brancos podem apresentar uma porcentagem considerável de ancestralidade genética africana 102 , podendo albergar os alelos de risco G1 e/ou G2 de APOL1 100 . Estudos específicos envolvendo análise genética e correlações genético-moleculares apenas em pacientes com GC ainda são escassos e com casuísticas pequenas.…”