Lessons and implications from association studies and post-GWAS analyses of cervical cancer

• Results from candidate gene association studies of cervical cancer have been inconsistent.
• GWAS have identified multiple novel susceptibility loci for cervical cancer.
• Post-GWAS analyses provide new insights into the pathogenesis of cervical cancer.
• Classic HLA alleles can be well imputed using MHC high-density SNP data.

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.