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GWAS Study

A polygenic risk score for nasopharyngeal carcinoma shows potential for risk stratification and personalized screening.

He YQ, Wang TM, Ji M et al.

35414057 PubMed ID
GWAS Study Type
9890 Participants
73 Views
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

HY
He YQ
WT
Wang TM
JM
Ji M
MZ
Mai ZM
TM
Tang M
WR
Wang R
ZY
Zhou Y
ZY
Zheng Y
XR
Xiao R
YD
Yang D
WZ
Wu Z
DC
Deng C
ZJ
Zhang J
XW
Xue W
DS
Dong S
ZJ
Zhan J
CY
Cai Y
LF
Li F
WB
Wu B
LY
Liao Y
ZT
Zhou T
ZM
Zheng M
JY
Jia Y
LD
Li D
CL
Cao L
YL
Yuan L
ZW
Zhang W
LL
Luo L
TX
Tong X
WY
Wu Y
LX
Li X
ZP
Zhang P
ZX
Zheng X
ZS
Zhang S
HY
Hu Y
QW
Qin W
DB
Deng B
LX
Liang X
FP
Fan P
FY
Feng Y
SJ
Song J
XS
Xie SH
CE
Chang ET
ZZ
Zhang Z
HG
Huang G
XM
Xu M
FL
Feng L
JG
Jin G
BJ
Bei J
CS
Cao S
LQ
Liu Q
KZ
Kozlakidis Z
MH
Mai H
SY
Sun Y
MJ
Ma J
HZ
Hu Z
LJ
Liu J
LM
Lung ML
AH
Adami HO
SH
Shen H
YW
Ye W
LT
Lam TH
ZY
Zeng YX
JW
Jia WH
Chapter II

Abstract

Summary of the research findings

Polygenic risk scores (PRS) have the potential to identify individuals at risk of diseases, optimizing treatment, and predicting survival outcomes. Here, we construct and validate a genome-wide association study (GWAS) derived PRS for nasopharyngeal carcinoma (NPC), using a multi-center study of six populations (6 059 NPC cases and 7 582 controls), and evaluate its utility in a nested case-control study. We show that the PRS enables effective identification of NPC high-risk individuals (AUC = 0.65) and improves the risk prediction with the PRS incremental deciles in each population (Ptrend ranging from 2.79 × 10-7 to 4.79 × 10-44). By incorporating the PRS into EBV-serology-based NPC screening, the test's positive predictive value (PPV) is increased from an average of 4.84% to 8.38% and 11.91% in the top 10% and 5% PRS, respectively. In summary, the GWAS-derived PRS, together with the EBV test, significantly improves NPC risk stratification and informs personalized screening.

4,506 East Asian ancestry cases, 5,384 East Asian ancestry controls

Chapter III

Study Statistics

Key metrics and study information

9890
Total Participants
GWAS
Study Type
No
Replicated
East Asian
Ancestry
China
Recruitment Country
Chapter IV

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