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GWAS Study

Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.

Chahal HS, Wu W, Ransohoff KJ et al.

27539887 PubMed ID
GWAS Study Type
304241 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

CH
Chahal HS
WW
Wu W
RK
Ransohoff KJ
YL
Yang L
HH
Hedlin H
DM
Desai M
LY
Lin Y
DH
Dai HJ
QA
Qureshi AA
LW
Li WQ
KP
Kraft P
HD
Hinds DA
TJ
Tang JY
HJ
Han J
SK
Sarin KY
Chapter II

Abstract

Summary of the research findings

Basal cell carcinoma (BCC) is the most common cancer worldwide with an annual incidence of 2.8 million cases in the United States alone. Previous studies have demonstrated an association between 21 distinct genetic loci and BCC risk. Here, we report the results of a two-stage genome-wide association study of BCC, totalling 17,187 cases and 287,054 controls. We confirm 17 previously reported loci and identify 14 new susceptibility loci reaching genome-wide significance (P<5 × 10(-8), logistic regression). These newly associated SNPs lie within predicted keratinocyte regulatory elements and in expression quantitative trait loci; furthermore, we identify candidate genes and non-coding RNAs involved in telomere maintenance, immune regulation and tumour progression, providing deeper insight into the pathogenesis of BCC.

12.945 European ancestry cases, 274,252 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

304241
Total Participants
GWAS
Study Type
Yes
Replicated
4,242 European ancestry cases, 12,802 European ancestry controls
Replication Participants
European
Ancestry
U.S.
Recruitment Country
Chapter IV

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