title: HIV-associated nephropathy patients with and without apolipoprotein L1 gene variants have similar clinical and pathological characteristics.
abstract: Recently, an association was found between nondiabetic kidney disease in African Americans and two independent sequence variants in the APOL1 gene, encoding apolipoprotein L1. In this study we determined the frequency of APOL1 risk variants in patients with biopsy-proven HIV-associated nephropathy (HIVAN) and distinctive pathological characteristics potentially driven by those risk variants. Among 76 patients with HIVAN, 60 were successfully genotyped for APOL1 G1 and G2 polymorphisms. In this cohort, 37 had two risk alleles, 18 were heterozygous, and 5 had neither risk variant. There were no differences in the pathological findings of HIVAN and the number of APOL1 risk alleles. Further, the progression to end-stage kidney disease or death did not differ by the number of risk alleles. Median renal survival was 9.3 months in patients with zero or one risk allele compared to 11.7 months in patients with two APOL1 risk alleles. Thus, our study suggests that although the majority of African-American patients with HIVAN have two APOL1 risk alleles other as yet unknown factors in the host, including genetic risk variants and environmental or viral factors, may influence the development of this disorder in those with zero or one APOL1 risk allele.
authors.affiliation: Department of Medicine, Johns Hopkins Medical Center, Baltimore, MD 21205, USA. matta1@jhmi.edu
authors.forename: Mohamed G
authors.initials: MG
authors.lastname: Atta
authors.forename: Michelle M
authors.initials: MM
authors.lastname: Estrella
authors.forename: Michael
authors.initials: M
authors.lastname: Kuperman
authors.forename: Matthew C
authors.initials: MC
authors.lastname: Foy
authors.forename: Derek M
authors.initials: DM
authors.lastname: Fine
authors.forename: Lorraine C
authors.initials: LC
authors.lastname: Racusen
authors.forename: Gregory M
authors.initials: GM
authors.lastname: Lucas
authors.forename: George W
authors.initials: GW
authors.lastname: Nelson
authors.forename: Andrew C
authors.initials: AC
authors.lastname: Warner
authors.forename: Cheryl A
authors.initials: CA
authors.lastname: Winkler
authors.forename: Jeffrey B
authors.initials: JB
authors.lastname: Kopp
mesh_terms: D016263:AIDS-Associated Nephropathy / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D000328:Adult; D001741:Black or African American / Q000235:genetics; D000075944:Apolipoprotein L1; D001053:Apolipoproteins / Q000235:genetics*; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D053208:Kaplan-Meier Estimate; D007676:Kidney Failure, Chronic / Q000150:complications / Q000235:genetics / Q000401:mortality / Q000473:pathology; D008075:Lipoproteins, HDL / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D012307:Risk Factors
chemical_list: C108666:APOL1 protein, human; D000075944:Apolipoprotein L1; D001053:Apolipoproteins; D008075:Lipoproteins, HDL