Common and Rare Sequence Variants Influencing Tumor Biomarkers in Blood.
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Olafsson Sigurgeir, Alexandersson Kristjan F, Gizurarson Johann G K, Hauksdottir Katrin, Gunnarsson Orvar, Olafsson Karl, Gudmundsson Julius, Stacey Simon N, Sveinbjornsson Gardar, Saemundsdottir Jona, Bjornsson Einar S, Olafsson Sigurdur, Bjornsson Sigurdur, Orvar Kjartan B, Vikingsson Arnor, Geirsson Arni J, Arinbjarnarson Sturla, Bjornsdottir Gyda, Thorgeirsson Thorgeir E, Sigurdsson Snaevar, Halldorsson Gisli H, Magnusson Olafur T, Masson Gisli, Holm Hilma, Jonsdottir Ingileif, Sigurdardottir Olof, Eyjolfsson Gudmundur I, Olafsson Isleifur, Sulem Patrick, Thorsteinsdottir Unnur, Jonsson Thorvaldur, Rafnar Thorunn, Gudbjartsson Daniel F, Stefansson Kari
Аннотация
METHODS: We performed genome-wide association studies of serum levels of AFP (N = 22,686), carcinoembryonic antigen (N = 22,309), cancer antigens 15.3 (N = 7,107), 19.9 (N = 9,945), and 125 (N = 9,824), and ALP (N = 162,774). We also examined the correlations between levels of these biomarkers and the presence of cancer, using data from a nationwide cancer registry.
RESULTS: We report a total of 84 associations of 79 sequence variants with levels of the six biomarkers, explaining between 2.3% and 42.3% of the phenotypic variance. Among the 79 variants, 22 are cis (in- or near the gene encoding the biomarker), 18 have minor allele frequency less than 1%, 31 are coding variants, and 7 are associated with gene expression in whole blood. We also find multiple conditions associated with higher biomarker levels.
CONCLUSIONS: Our results provide insights into the genetic contribution to diversity in concentration of tumor biomarkers in blood.
IMPACT: Genetic correction of biomarker values could improve prediction algorithms and decision-making based on these biomarkers.