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GWAS Study

Defining the genetic susceptibility to cervical neoplasia-A genome-wide association study.

Leo PJ, Madeleine MM, Wang S et al.

28806749 PubMed ID
GWAS Study Type
9347 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

LP
Leo PJ
MM
Madeleine MM
WS
Wang S
SS
Schwartz SM
NF
Newell F
PU
Pettersson-Kymmer U
HK
Hemminki K
HG
Hallmans G
TS
Tiews S
SW
Steinberg W
RJ
Rader JS
CF
Castro F
SM
Safaeian M
FE
Franco EL
CF
Coutlée F
OC
Ohlsson C
CA
Cortes A
MM
Marshall M
MP
Mukhopadhyay P
CK
Cremin K
JL
Johnson LG
TC
Trimble CL
GS
Garland S
TS
Tabrizi SN
WN
Wentzensen N
SF
Sitas F
LJ
Little J
CM
Cruickshank M
FI
Frazer IH
HA
Hildesheim A
BM
Brown MA
Chapter II

Abstract

Summary of the research findings

A small percentage of women with cervical HPV infection progress to cervical neoplasia, and the risk factors determining progression are incompletely understood. We sought to define the genetic loci involved in cervical neoplasia and to assess its heritability using unbiased unrelated case/control statistical approaches. We demonstrated strong association of cervical neoplasia with risk and protective HLA haplotypes that are determined by the amino-acids carried at positions 13 and 71 in pocket 4 of HLA-DRB1 and position 156 in HLA-B. Furthermore, 36% (standard error 2.4%) of liability of HPV-associated cervical pre-cancer and cancer is determined by common genetic variants. Women in the highest 10% of genetic risk scores have approximately >7.1% risk, and those in the highest 5% have approximately >21.6% risk, of developing cervical neoplasia. Future studies should examine genetic risk prediction in assessing the risk of cervical neoplasia further, in combination with other screening methods.

2,866 European ancestry cases, 6,481 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

9347
Total Participants
GWAS
Study Type
No
Replicated
European
Ancestry
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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