PREVALENCE OF THE APOLIPOPROTEIN L1 GENE (APOL1) G1/G2 RISK GENOTYPE AND ASSOCIATION WITH NON-DIABETIC CHRONIC KIDNEY DISEASE IN SELF-DECLARED AFRODESCENDANTS IN SOUTHERN BRAZIL

E-Poster

https://storage.unitedwebnetwork.com/files/1099/91ccd479511426cc70051fd2435c43bd.pdf

Abstract Title

First Name *

Celia Mariana

Last Name *

Barbosa de Souza

Co-author 1

Celia Mariana Barbosa de Souza cmmartins@hcpa.edu.br Hospital de Clinicas de Porto Alegre Nephrology Service Porto Alegre

Co-author 2

Bibiana Sampaio Oliveira Fam bsfam@hcpa.edu.br Hospital de Clinicas de Porto Alegre Genomic Medicine Lab Porto Alegre

Co-author 3

Giovanna Câmara Giudicelli ggiudicelli@hcpa.edu.br Hospital de Clinicas de Porto Alegre Genomic Medicine Lab Porto Alegre

Co-author 4

Mauro Renato Ribeiro Soares Junior maurorenatoribeirosoaresjunior@gmail.com Hospital de Clinicas de Porto Alegre Nephrology Service Porto Alegre

Co-author 5

Maicon Douglas Torely maicontorely@yahoo.com.br Hospital de Clinicas de Porto Alegre Nephrology Service Porto Alegre

Co-author 6

Franciele Moreira Barbosa bfranciele6@gmail.com Hospital de Clinicas de Porto Alegre Nephrology Service Porto Alegre

Co-author 7

Wiliam Cardoso Silva wiliam_cardososilva@hotmail.com Hospital de Clinicas de Porto Alegre Nephrology Service Porto Alegre

Co-author 8

Thayne Woycinck Kowalski tkowalski@hcpa.edu.br Hospital de Clinicas de Porto Alegre Genomic Medicine Lab Porto Alegre

Co-author 9

Mariléa Furtado Feira mfeira@hcpa.edu.br Hospital de Clinicas de Porto Alegre Genomic Medicine Lab Porto Alegre

Co-author 10

Renan Barbosa Lemes renan.barbosa.lemes@gmail.com University of São Paulo Department of Genetics and Evolutionary Biology São Paulo

Co-author 11

Lygia da Veiga Pereira lpereira@usp.br Medical School of the University of São Paulo Heart Institute São Paulo

Co-author 12

Tábita Hünemeier hunemeier@gmail.com University of São Paulo Department of Genetics and Evolutionary Biology São Paulo

Co-author 13

Fernanda Sales Luiz Vianna fvianna@hcpa.edu.br Federal University of Rio Grande do Sul Department of Genetics Porto Alegre

Co-author 14

Francisco Veríssimo Veronese fveronese@hcpa.edu.br Federal University of Rio Grande do Sul Nephrology Service Porto Alegre

Co-author 15

Introduction

Chronic kidney disease (CKD) has a prevalence of 10% among Brazilians. The presence of two risk alleles called G1 and G2 of the Apolipoprotein L1 gene (APOL1), which are more frequent in individuals of African descent, has been associated with CKD, and rare in people of European descent. Here, we evaluated the clinical profile and genomic ancestry of Brazilian individuals affected by CKD and a control group of self-declared black individuals from Southern Brazil.

Methods

Clinical data were obtained from medical records and questionnaires applied to individuals. The whole genome sequence (WGS) were sequenced from blood samples. Genetic data were analyzed using bioinformatics tools with the GATK, VCFTOOLS and PLINK packages. Global ancestry was estimated with the ADMIXTURE program. Descriptive analysis of clinical data was performed using the SPSS program, observing absolute frequencies, measures of central tendency and dispersion. The sample groups, cases and controls, were compared in terms of the G1 and G2 alleles, and clinical characteristics. Multivariate binary logistic regression analysis was employed to investigate the frequency of risk alleles in the APOL1 and the role of low-risk G0/G0, moderate-risk G1/G0 (rs73885319 and rs60910145) and G0/G2 (rs143830837) and high-risk G1/G2 (rs73885319, rs60910145 and rs143830837) genotypes in the risk of developing CKD. The study was approved by the Research Ethics Committee of the Hospital de Clínicas de Porto Alegre (CAAE: 36976820.5.0000.5327).

Results

A total of 345 individuals were analyzed, 175 cases and 170 controls. Carries of risk alleles (G1/G1, G1/G2, G2/G2) accounted for 7.9%, and 92.1% were without risk genotypes (G0). The allele frequency was estimated at 11% for G1 (rs73885319, A:0.88/G:0.12 and rs60910145, T:0.89/G:0.11) and 5% for G2 (rs14383830837, AATAATT: 0.95/INDEL:0.05). Multivariate analysis considering sex and age estimated an odds ratio (OR) of 4.717 (95% CI 1.53 - 14.53, p= 0.007) for the development of CKD in carriers of APOL1 risk alleles. In the analysis of the global ancestry of the individuals in the study, on average, African ancestry stands out (49%), European (40%) and Native American (11%).

Conclusions

We identified the presence of risk alleles and an increased risk of developing CKD in carriers of G1 and G2 alleles. These findings are consistent with existing literature and underscore the need for health care and management in the Afro-Brazilian population.

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