Genes have a major role in the control of high-density lipoprotein (HDL) cholesterol (HDL-C) levels. Here we have identified two Tangier disease (TD) families, confirmed 9q31 linkage and refined the disease locus to a limited genomic region containing the gene encoding the ATP-binding cassette transporter (ABC1). Familial HDL deficiency (FHA) is a more frequent cause of low HDL levels. On the basis of independent linkage and meiotic recombinants, we localized the FHA locus to the same genomic region as the TD locus. Mutations in ABC1 were detected in both TD and FHA, indicating that TD and FHA are allelic. This indicates that the protein encoded by ABC1 is a key gatekeeper influencing intracellular cholesterol transport, hence we have named it cholesterol efflux regulatory protein (CERP).

These data suggest that common variation in ABCA1 significantly influences plasma lipid levels and the severity of CAD.

I n 2012, Kidney Disease: Improving Global Outcomes (KDIGO) published a guideline on the classification and management of acute kidney injury (AKI). 1 Since then, new evidence has emerged that has important implications for clinical practice. Large epidemiology studies and risk profiles for AKI have become available in adults and children, such as the AKI-Epidemiologic Prospective Investigation (AKI-EPI) study, 2 the 0by25 Initiative, 3 the Southeast Asia-AKI (SEA-AKI) study, 4 and the Assessment of Worldwide Acute Kidney Injury, Renal Angina, and Epidemiology (AWARE) 5 and Assessment of Worldwide Acute Kidney Injury Epidemiology in Neonates (AWAKEN) 6 studies. The effectiveness of the KDIGO recommendations in preventing AKI has been confirmed in small single-center randomized controlled trials (RCTs), such as the Prevention of AKI (PrevAKI) 7 and the