(e-Century Publishing, 2010) Terry, Kathryn; Vitonis, Allison F.; Hernandez, Dena; Lurie, Galina; Song, Honglin; Ramus, Susan J.; Titus-Ernstoff, Linda; Carney, Michael E.; Wilkins, Lynne R.; Gentry-Maharaj, Aleksandra; Menon, Usha; Gayther, Simon A.; Pharaoh, Paul D.; Goodman, Marc T.; Cramer, Daniel; Birrer, Michael J.
Recent epidemiologic evidence supports a role for MUC1 in ovarian carcinogenesis; therefore, we hypothesized that common genetic variation in the genes responsible for glycosylation of MUC1 may influence ovarian cancer risk. In a genome-wide association study of ovarian cancer, we observed an association between a non-synonymous SNP (rs2271077) in the UDP-N-acetyl-alpha-d-galactosamine: polypeptide N-acetylgalactosainyltransferase 2 (GALNT2) gene and ovarian cancer risk (p=0.005). We sought to validate the association in four population based ovarian cancer case-control studies collaborating through the Ovarian Cancer Association Consortium. Although rs2271077 was associated with a significantly increased risk (Odds Ratio (OR) = 1.37, 95% Confidence Interval (CI) = 1.06-1.77) in one study with 961 cases and 922 controls, we observed no association in the remaining three studies including 1452 cases and 1954 controls (OR=0.83, 95% CI= 0.66-1.04). Therefore, there appears to be no strong evidence of association between GALNT2 SNP rs2271077 and ovarian cancer risk.
