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GWAS Study

Genome-wide association study identifies four SNPs associated with response to platinum-based neoadjuvant chemotherapy for cervical cancer.

Li X, Huang K, Zhang Q et al.

28120872 PubMed ID
GWAS Study Type
596 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

LX
Li X
HK
Huang K
ZQ
Zhang Q
ZJ
Zhou J
SH
Sun H
TF
Tang F
ZH
Zhou H
HT
Hu T
WS
Wang S
JY
Jia Y
YR
Yang R
CY
Chen Y
CX
Cheng X
LW
Lv W
WL
Wu L
XH
Xing H
WL
Wang L
ZS
Zhou S
YY
Yao Y
WX
Wang X
SQ
Suolang Q
SJ
Shen J
XL
Xi L
HJ
Hu J
WH
Wang H
CG
Chen G
GQ
Gao Q
XX
Xie X
WS
Wang S
LS
Li S
MD
Ma D
Chapter II

Abstract

Summary of the research findings

To identify genomic markers associated with the response to neoadjuvant chemotherapy (NACT) in patients with cervical cancer, we performed a three-stage genome-wide association study (GWAS) in the Han Chinese population. A total of 596 patients with stage IA2-IIIB cervical cancer were enrolled in this study. One single nucleotide polymorphism (SNP) (rs6812281, per allele OR = 2.37, P = 9.0 × 10-9) located at 4q34.3 reached GWAS significance (P < 5.0 × 10-8). Another three SNPs, rs4590782 (10q26.2, P = 1.59 × 10-5, per allele OR = 0.48), rs1742101 (14q32.11, P = 7.11 × 10-6, per allele OR = 0.52), and rs1364121 (16q23.3, P = 3.15 × 10-6, per allele OR = 1.98), exhibited strong evidence of associations with response to neoadjuvant chemotherapy. Patients with a C allele (CT + CC) of rs4590782 had better 5-year overall survival rates (82.9% vs. 75.8%, P = 0.083) and 5-year disease-free survival rate (80.8% vs. 72.7%, P = 0.021) than those without a C allele. Our findings help to characterize the genetic etiology of the response to neoadjuvant chemotherapy in patients with cervical cancer.

66 Han Chinese ancestry non-responder cases, 160 Han Chinese ancestry responder cases

Chapter III

Study Statistics

Key metrics and study information

596
Total Participants
GWAS
Study Type
Yes
Replicated
79 Han Chinese ancestry non-responder cases, 291 Han Chinese ancestry responder cases
Replication Participants
East Asian
Ancestry
China
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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