Identification of Ceruloplasmin as a Gene that Affects Susceptibility to Glomerulonephritis Through Macrophage Function.

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Abstrakt

Tytuł:: Identification of Ceruloplasmin as a Gene that Affects Susceptibility to Glomerulonephritis Through Macrophage Function.
Autorzy:: Chen TD; Centre for Complement and Inflammation Research, Imperial College London, London W12 0NN, United Kingdom.; Department of Anatomic Pathology, Chang Gung Memorial Hospital, 33305 Taoyuan, Taiwan.
Rotival M; Institut Pasteur, Unit of Human Evolutionary Genetics, Paris 75015, France.
Chiu LY; Kidney Institute, Department of Nephrology, Chang Gung Memorial Hospital, 10591 Taipei, Taiwan.
Bagnati M; Centre for Complement and Inflammation Research, Imperial College London, London W12 0NN, United Kingdom.
Ko JH; Centre for Complement and Inflammation Research, Imperial College London, London W12 0NN, United Kingdom.
Srivastava PK; Division of Brain Sciences, Imperial College London, Hammersmith Hospital Campus, London W12 0NN, United Kingdom.
Petretto E; Duke-NUS Medical School, National University of Singapore, Singapore 169857, Singapore.
Pusey CD; Renal and Vascular Inflammation Section, Imperial College London, London W12 0NN, United Kingdom.
Lai PC; Kidney Institute, Department of Nephrology, Chang Gung Memorial Hospital, 10591 Taipei, Taiwan.
Aitman TJ; Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.
Cook HT; Centre for Complement and Inflammation Research, Imperial College London, London W12 0NN, United Kingdom.
Behmoaras J; Centre for Complement and Inflammation Research, Imperial College London, London W12 0NN, United Kingdom .
Źródło:: Genetics [Genetics] 2017 Jun; Vol. 206 (2), pp. 1139-1151. Date of Electronic Publication: 2017 Apr 26.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
Język:: English
Imprint Name(s):: Publication: 2021- : [Oxford] : Oxford University Press
Original Publication: Austin, Tex. [etc.]
MeSH Terms:: Genetic Predisposition to Disease*
Ceruloplasmin/*genetics
Glomerulonephritis/*genetics
Animals ; Ceruloplasmin/biosynthesis ; Chromosome Mapping ; Gene Expression Regulation ; Genetic Linkage ; Glomerulonephritis/pathology ; Humans ; Macrophages/metabolism ; Macrophages/pathology ; Rats ; Rats, Inbred WKY
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Grant Information:: MC_U120061454 United Kingdom MRC_ Medical Research Council; MC_U120097112 United Kingdom MRC_ Medical Research Council; MR/M004716/1 United Kingdom MRC_ Medical Research Council; MR/N01121X/1 United Kingdom MRC_ Medical Research Council
Contributed Indexing:: Keywords: Genetics of Immunity; QTL; eQTL; fine mapping; glomerulonephritis; macrophages; positional cloning
Substance Nomenclature:: EC 1.16.3.1 (Ceruloplasmin)
Entry Date(s):: Date Created: 20170429 Date Completed: 20170711 Latest Revision: 20220129
Update Code:: 20240105
PubMed Central ID:: PMC5499168
DOI:: 10.1534/genetics.116.197376
PMID:: 28450461
: Czasopismo naukowe

Crescentic glomerulonephritis (Crgn) is a complex disorder where macrophage activity and infiltration are significant effector causes. In previous linkage studies using the uniquely susceptible Wistar Kyoto (WKY) rat strain, we have identified multiple crescentic glomerulonephritis QTL ( Crgn ) and positionally cloned genes underlying Crgn1 and Crgn2 , which accounted for 40% of total variance in glomerular inflammation. Here, we have generated a backcross (BC) population ( n = 166) where Crgn1 and Crgn2 were genetically fixed and found significant linkage to glomerular crescents on chromosome 2 ( Crgn8 , LOD = 3.8). Fine mapping analysis by integration with genome-wide expression QTLs (eQTLs) from the same BC population identified ceruloplasmin ( Cp ) as a positional eQTL in macrophages but not in serum. Liquid chromatography-tandem mass spectrometry confirmed Cp as a protein QTL in rat macrophages. WKY macrophages overexpress Cp and its downregulation by RNA interference decreases markers of glomerular proinflammatory macrophage activation. Similarly, short incubation with Cp results in a strain-dependent macrophage polarization in the rat. These results suggest that genetically determined Cp levels can alter susceptibility to Crgn through macrophage function and propose a new role for Cp in early macrophage activation.
(Copyright © 2017 by the Genetics Society of America.)

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