Engulfment and cell motility 1 (ELMO1) and apolipoprotein A1 (APOA1) as candidate genes for sickle cell nephropathy.
Br J Haematol
; 193(3): 628-632, 2021 05.
Article
in En
| MEDLINE
| ID: mdl-33216373
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 ß (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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Down-Regulation
/
Up-Regulation
/
Cell Movement
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Apolipoprotein A-I
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Adaptor Proteins, Signal Transducing
/
Renal Insufficiency, Chronic
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Gene Regulatory Networks
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Anemia, Sickle Cell
Limits:
Adult
/
Animals
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Female
/
Humans
/
Male
Language:
En
Journal:
Br J Haematol
Year:
2021
Document type:
Article
Affiliation country:
United States