ESPN 50th Annual Meeting

ESPN 2017


 
APOL1 risk variants genotyping and the association with the early kidney damage in children from the Democratic Republic of Congo (DRC)
EKULU MFUTU PEPE 1 BETUKUMESU KABASELE DIEU-MERCI 2 NKOY BEKUPE AGATHE 2 ALONI NTETANI MICHEL 2 LEPIRA BOMPEKA FRANÇOIS 3 VAN DEN HEUVEL LAMBERTUS 1 LEVTCHENKO ELENA 1

1- DEPARTMENT OF PAEDIATRIC NEPHROLOGY & GROWTH AND REGENERATION, UNIVERSITY HOSPITALS LEUVEN KU LEUVEN - UNIVERSITY OF LEUVEN, LEUVEN, BELGIUM
2- DIVISION OF NEPHROLOGY, DEPARTMENT OF PEDIATRICS, UNIVERSITY HOSPITAL OF KINSHASA, FACULTY OF MEDICINE, UNIVERSITY OF KINSHASA, DEMOCRATIC REPUBLIC OF CONGO
3- DIVISION OF NEPHROLOGY, DEPARTMENT OF INTERNAL MEDICINE, UNIVERSITY HOSPITAL OF KINSHASA, FACULTY OF MEDICINE, UNIVERSITY OF KINSHASA, DEMOCRATIC REPUBLIC OF CONGO
 
Introduction:

There are evolving epidemiological and biological data to support an association between the gene encoding apolipoprotein-L1 (APOL1) and progressive chronic kidney disease (CKD) among African-Americans. In Africa, data related to the geographical distribution of APOL1 genetic risk variants G1 and G2 are limited, and there is no reliable data from Democratic Republic of Congo (DRC). We aimed to determine the frequencies of APOL1 risk variants in a large population from Central Africa and to assess the association with the early kidney damage in children.

Material and methods:

A total of 465 participants from four large districts in Kinshasa were enrolled. APOL1 high-risk genotype was defined by the presence of 2 high-risk variants (G1/G1, G2/G2, G1/G2) and low risk genotype if 0 or 1 risk variants were present. Albumin-to-creatinine ratio (ACR) was assessed in a fresh morning urine sample in children only, and elevated ACR was defined as ACR>30mg/g.

Results:

From 465 subjects enrolled, 453 were successfully genotyped, of whom 388 children and 65 adults.  APOL1 sequence analysis revealed 201 (44%) participants carrying at least one APOL1 risk variant, 36 (8%) 2 risk variants. Concerning the frequency of APOL1 risk alleles, 14 % of all chromosomes carried G1 whilst 13% carried G2. Thus, the burden of APOL1 risk allele was 27%. Of 388 children, 39 (10%) had elevated ACR. Compared to those carrying low-risk genotype, children with APOL1 high-risk genotype had a higher prevalence of microalbuminuria (OR 1.48, 95% CI 0.41-4.84).

Conclusions:

APOL1 risk variants are common in DRC. However, the high-risk genotype did not show a strong statistical association with the early kidney damage in a general population of children.