1. Roles ofAPOL1 G1 and G2 variants in sickle cell disease patients: kidney is the main target
- Author
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Jean-Antoine Ribeil, Dominique Prié, Jacques Pouchot, Anne-Sophie Jannot, Valentin Joste, Eric Thervet, Raphael Kormann, Marie Courbebaisse, Marianne Delville, Sandra Manceau, Céline Narjoz, and Jean-Benoît Arlet
- Subjects
Adult ,Male ,Heterozygote ,medicine.medical_specialty ,030232 urology & nephrology ,Renal function ,Anemia, Sickle Cell ,Kidney ,Gastroenterology ,Sickle cell nephropathy ,End stage renal disease ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,Genotype ,Albuminuria ,Humans ,Medicine ,Glutathione Transferase ,Proteinuria ,business.industry ,Homozygote ,Genetic Variation ,Hematology ,Apolipoprotein L1 ,medicine.disease ,Black or African American ,Apolipoproteins ,medicine.anatomical_structure ,Glutathione S-Transferase pi ,Female ,medicine.symptom ,Lipoproteins, HDL ,business ,Heme Oxygenase-1 ,Glomerular Filtration Rate ,030215 immunology ,Kidney disease - Abstract
Summary In African-American patients with sickle cell disease (SCD), APOL1 G1 and G2 variants are associated with increased risk of sickle cell nephropathy (SCN). To determine the role of APOL1 variants in SCD patients living in Europe, we genotyped 152 SCD patients [aged 30·4 (24·3–36·4) years], mainly of Sub-Saharan African ancestry, for APOL1 G1 and G2 and for variants of four genes with kidney tropism (GSTM1, GSTT1, GSTP1, and HMOX1). Homozygous or double-heterozygous APOL G1 and G2 genotypes were strongly associated with end stage renal disease (P = 0·003) and worse Kidney Disease: Improving Global Outcomes stages (P = 0·001). Further, these genotypes were associated in an age-dependent manner with lower estimated glomerular filtration rate (eGFR, P = 0·008), proteinuria (P = 0·009) and albuminuria (P
- Published
- 2017
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