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Risk of Pancreatic Cancer Linked to Variation in Gene for ABO Blood Type BETHESDA, Md -- August 3, 2009 -- Common variants of the gene that determines human blood type are associated with an increased risk of pancreatic cancer, according to a study published online August 2 in Nature Genetics. In the study, researchers discovered that genetic variation in a region of chromosome 9 that contains the gene for ABO blood type was associated with pancreatic cancer risk. Individuals with the variant that results in blood types A, B, or AB were at an increased risk of pancreatic cancer, compared with those with the variant for blood type O. This finding is consistent with previous research, some of it dating back to the 1950s and 1960s, that had shown increased risks of gastric and pancreatic cancer among individuals of the A and B blood groups. The latest results provide a genetic basis for those earlier observations. To discover genetic variations that contribute to pancreatic cancer risk, the research team conducted a genome-wide association study (GWAS). Initially, the research team studied the genomes of 1,896 patients with pancreatic cancer and 1,939 control subjects to identify single-nucleotide polymorphisms (SNPs) with a strong association with pancreatic cancer. The team then verified its findings by studying the genomes of another 2,457 people with pancreatic cancer and 2,654 people without the disease. In the end, they identified several SNPs on the long arm of chromosome 9 that were associated with pancreatic cancer risk and mapped to the ABO gene. “Only by working across disciplines and with more than a dozen research groups were we able to make this important discovery of the potential role of the ABO gene in pancreatic cancer risk,” said co-author Patricia Hartge, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland. “Although it will take much more work, this finding may lead to improved diagnostic and therapeutic interventions that are so desperately needed.” The study was part of PanScan, a GWAS of pancreatic cancer conducted by the Pancreatic Cancer Cohort Consortium, composed of 14 academic centres. The investigators are conducting whole-genome scans to identify common genetic variants that may be markers of susceptibility to pancreatic cancer. SOURCE: National Institutes of Health E-mail this page to a friend or colleague! To print, use this version