Blood Relations

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Science  28 Aug 2009:
Vol. 325, Issue 5944, pp. 1049
DOI: 10.1126/science.325_1049a
CREDIT: AMUNDADOTTIR ET AL., NAT. GENET. 41, 10.1038/NG.429 (2009)

The mortality rate for pancreatic cancer approaches the rate of incidence, in part because early stages of the disease are asymptomatic and diagnosis at later stages remains difficult. As with many cancers, a family history of the disease is a known risk factor; identification of genetic variants associated with pancreatic cancer might improve early detection. Amundadottir et al. have performed a genomewide association study to identify common genetic variants found specifically in patients suffering from pancreatic cancer. In a Manhattan plot, they found within the first intron of the ABO blood group gene variants that were associated with susceptibility to the disease. The ABO gene encodes a glycosyltransferase that modifies a cell surface antigen. The three alleles (A, B, and O) of this gene determine blood type, which was first associated with gastric and pancreatic cancer more than half a century ago. What pathways might mediate this association? Variants within the same intron of the ABO gene have also been linked with circulating levels of the cytokine tumor necrosis factor α, which is involved in the inflammatory response. Other possible factors contributing to tumorigenesis include alterations in cell adhesion and immune surveillance.

Nat. Genet. 41, 10.1038/ng.429 (2009).

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