Journal
TRENDS IN GENETICS
Volume 31, Issue 1, Pages 41-54Publisher
ELSEVIER SCIENCE LONDON
DOI: 10.1016/j.tig.2014.10.005
Keywords
cervical cancer; candidate gene association study; genome-wide association study; functional characterization; pathway-based analysis
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Cervical cancer has a heritable genetic component. A large number of genetic associations with cervical cancer have been reported in hypothesis-driven candidate gene studies, but many of these results are either inconsistent or have failed to be independently replicated. Genome-wide association studies (GWAS) have identified additional susceptibility loci previously not implicated in cervical cancer development, highlighting the power of genome-wide unbiased association analyses. Post-GWAS analyses including pathway-based analysis and functional characterization of associated variants have provided new insights into the pathogenesis of cervical cancer. In this review we summarize findings from candidate gene association studies, GWAS, and post-GWAS analyses of cervical cancer. We also discuss gaps in our understanding, possible clinical implications of the findings, and lessons for studies of other complex diseases.
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