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GWAS Study

A multi-phenotype analysis reveals 19 susceptibility loci for basal cell carcinoma and 15 for squamous cell carcinoma.

Seviiri M, Law MH, Ong JS et al.

36496446 PubMed ID
GWAS Study Type
2831314 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

SM
Seviiri M
LM
Law MH
OJ
Ong JS
GP
Gharahkhani P
FP
Fontanillas P
OC
Olsen CM
WD
Whiteman DC
MS
MacGregor S
Chapter II

Abstract

Summary of the research findings

Basal cell carcinoma and squamous cell carcinoma are the most common skin cancers, and have genetic overlap with melanoma, pigmentation traits, autoimmune diseases, and blood biochemistry biomarkers. In this multi-trait genetic analysis of over 300,000 participants from Europe, Australia and the United States, we reveal 78 risk loci for basal cell carcinoma (19 previously unknown and replicated) and 69 for squamous cell carcinoma (15 previously unknown and replicated). The previously unknown risk loci are implicated in cancer development and progression (e.g. CDKL1), pigmentation (e.g. TPCN2), cardiometabolic (e.g. FADS2), and immune-regulatory pathways for innate immunity (e.g. IFIH1), and HIV-1 viral load modulation (e.g. CCR5). We also report an optimised polygenic risk score for effective risk stratification for keratinocyte cancer in the Canadian Longitudinal Study of Aging (794 cases and 18139 controls), which could facilitate skin cancer surveillance e.g. in high risk subpopulations such as transplantees.

20,791 European ancestry cases, 286,893 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

2831314
Total Participants
GWAS
Study Type
Yes
Replicated
251,963 European ancestry cases, 2,271,667 European ancestry controls
Replication Participants
European
Ancestry
U.S., U.K., Australia
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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Analysis In Progress

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