Endometrial Cancer Meta-Analysis Leads to New Risk Variants, Causal Gene Candidates

NEW YORK (GenomeWeb) – A genome-wide association meta-analysis has uncovered new and known risk factors for endometrial cancer, including variants in and around expression quantitative trait loci (eQTL) that implicated potential causal genes. 

Researchers from the University of Cambridge, QIMR Berghofer Medical Research Institute, and elsewhere brought together data from 17 prior endometrial cancer studies, encompassing more than 12,900 endometrial cancer cases and almost 109,000 age-matched controls. Their meta-analysis highlighted nine new loci with genome-wide significant ties to endometrial cancer, while subsequent analyses led to risk alleles linked to altered expression of genes suspected of contributing to the gynecological cancer.

The work “doubled the number of known endometrial cancer risk loci and revealed candidate causal genes for future study,” senior author Deborah Thompson, a public health and primary care researcher at the University of Cambridge, and her co-authors wrote in their Nature Communications paper yesterday, adding that their related expression quantitative trait locus analysis “identified candidate causal genes and pathways related to tumor development for follow-up studies.”

Using data generated through studies done for the Endometrial Cancer Association Consortium, Epidemiology of Endometrial Cancer Consortium, and UK Biobank project, the team compared directly genotyped and imputed SNP profiles in 12,906 endometrial

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