| Literature DB >> 33216373 |
Santosh L Saraf1, Xu Zhang1, Binal N Shah1, Rasha Raslan1, Bamidele O Tayo2, James P Lash3, Nora Franceschini4, Victor R Gordeuk1.
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.Entities:
Keywords: APOA1; APOL1; ELMO1; kidney disease; sickle cell disease
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Year: 2020 PMID: 33216373 PMCID: PMC8084902 DOI: 10.1111/bjh.17224
Source DB: PubMed Journal: Br J Haematol ISSN: 0007-1048 Impact factor: 6.998