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GWAS Study

Cystatin C is glucocorticoid responsive, directs recruitment of Trem2+ macrophages, and predicts failure of cancer immunotherapy.

Kleeman SO, Thakir TM, Demestichas B et al.

37601967 PubMed ID
GWAS Study Type
381764 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

KS
Kleeman SO
TT
Thakir TM
DB
Demestichas B
MN
Mourikis N
LD
Loiero D
FM
Ferrer M
BS
Bankier S
RY
Riazat-Kesh YJRA
LH
Lee H
CD
Chantzichristos D
RC
Regan C
PJ
Preall J
SS
Sinha S
RN
Rosin N
YB
Yipp B
DA
de Almeida LGN
BJ
Biernaskie J
DA
Dufour A
TP
Tober-Lau P
RA
Ruusalepp A
BJ
Bjorkegren JLM
RM
Ralser M
KF
Kurth F
DV
Demichev V
HT
Heywood T
GQ
Gao Q
JG
Johannsson G
KV
Koelzer VH
WB
Walker BR
MH
Meyer HV
JT
Janowitz T
Chapter II

Abstract

Summary of the research findings

Cystatin C (CyC), a secreted cysteine protease inhibitor, has unclear biological functions. Many patients exhibit elevated plasma CyC levels, particularly during glucocorticoid (GC) treatment. This study links GCs with CyC's systemic regulation by utilizing genome-wide association and structural equation modeling to determine CyC production genetics in the UK Biobank. Both CyC production and a polygenic score (PGS) capturing predisposition to CyC production were associated with increased all-cause and cancer-specific mortality. We found that the GC receptor directly targets CyC, leading to GC-responsive CyC secretion in macrophages and cancer cells. CyC-knockout tumors displayed significantly reduced growth and diminished recruitment of TREM2+ macrophages, which have been connected to cancer immunotherapy failure. Furthermore, the CyC-production PGS predicted checkpoint immunotherapy failure in 685 patients with metastatic cancer from combined clinical trial cohorts. In conclusion, CyC may act as a GC effector pathway via TREM2+ macrophage recruitment and may be a potential target for combination cancer immunotherapy.

381,764 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

381764
Total Participants
GWAS
Study Type
No
Replicated
European, African unspecified, Central Asian, South Asian
Ancestry
U.K.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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Analysis In Progress

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