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Journal Article Research Support, N.I.H., Extramural Ppublish 6 citations

PubMed: 33216373 DOI: 10.1111/bjh.17224

Engulfment and cell motility 1 (ELMO1) and apolipoprotein A1 (APOA1) as candidate genes for sickle cell nephropathy.

Br J Haematol 193(3):628-632

Authors: Santosh L Saraf, Xu Zhang, Binal N Shah, Rasha Raslan, Bamidele O Tayo, James P Lash, Nora Franceschini, Victor R Gordeuk

Affiliations

  • Division of Hematology and Oncology, Department of Medicine, University of Illinois at Chicago, Chicago, IL, USA.
  • Department of Public Health Sciences, Loyola University Chicago Stritch School of Medicine, Maywood, IL, USA.
  • Division of Nephrology, Department of Medicine, University of Illinois at Chicago, Chicago, IL, USA.
  • Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, NC, USA.

Abstract

Sickle cell disease (SCD) and apolipoprotein L1 (APOL1) G1/G2 variants increase chronic kidney disease (CKD) risk in African Americans by poorly understood mechanisms. We applied bioinformatics to identify new candidate genes associated with SCD-related CKD. An interaction network demonstrated APOA1 connecting haemoglobin subunit β (HBB) and APOL1 with 36 other candidate genes. Gene expression revealed upregulation of engulfment and cell motility 1 (ELMO1) and downregulation of APOA1 in the kidney cortex of SCD versus non-SCD mice. Analysis of candidate genes identified ELMO1 rs10951509 to be associated with albuminuria and APOA1 rs11216132 with haemoglobinuria in patients with SCD. A bioinformatic approach highlights ELMO1 and APOA1 as potentially associated with SCD nephropathy.

MeSH

Kidney Diseases, Cells, Genes, Hematology, Anemia, Sickle Cell, Kidney, Apolipoproteins, Apolipoprotein A-I

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