What is the role of genetics in the etiology of HIV-related renal disorders?

Updated: May 09, 2018
  • Author: Moro O Salifu, MD, MPH, FACP; Chief Editor: Vecihi Batuman, MD, FASN  more...
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In 120 patients with HIVAN and chronic kidney disease (CKD) and 108 controls from a South African black population, Kasembeli et al found that 79% of patients with HIVAN and 2% of the controls carried two risk alleles (APOL1 G1 and G2 variants). In this study any individual possessing any combination of two APOL1 risk alleles had 89-fold increased odds (95% CI: 18 - 912; P < 0.001) of developing HIVAN compared with HIV-positive controls. [8]  In contrast, HIV-positive Ethiopians, who lack APOL1 risk variants, do not develop HIVAN. [4]  

Coding variants in APOL1 are present only on African-ancestry haplotypes. They are thought to protect against African trypanosomiasis (African sleeping sickness), a deadly parasitic disease caused by two strains of Trypanosoma brucei, one of which is found in East Africa, while the other affects West Africa. APOL1 encodes apolipoprotein L1, which confers innate immunity against most strains of Trypanosoma brucei; G2 variants extend immunity to T.b. rhodesiense and G1 associates with asymptomatic carriage of T.b. gambiense, the causes of acute and chronic African human trypanosomiasis, respectively. [9]  

As a consequence of the West African diaspora in the Americas and more recent African emigrations, APOL1 variants are widely dispersed globally (eg, 21% and 13% for G1 and G2, respectively, in African Americans). [4]

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