Terry Kathryn L, Vitonis Allison F, Hernandez Dena, Lurie Galina, Song Honglin, Ramus Susan J, Titus-Ernstoff Linda, Carney Michael E, Wilkens Lynne R, Gentry-Maharaj Aleksandra, Menon Usha, Gayther Simon A, Pharaoh Paul D, Goodman Marc T, Cramer Daniel W, Birrer Michael J
Int J Mol Epidemiol Genet. 2010 Jul 26;1(4):272-7.
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.
近期的流行病学证据支持MUC1在卵巢癌发生过程中发挥作用；因此，我们推测负责MUC1糖基化的基因中的常见基因变异可能会影响卵巢癌风险。在一项卵巢癌全基因组关联研究中，我们观察到UDP-N-乙酰-α-D-半乳糖胺：多肽N-乙酰半乳糖胺基转移酶2（GALNT2）基因中的一个非同义单核苷酸多态性（rs2271077）与卵巢癌风险之间存在关联（p=0.005）。我们试图通过卵巢癌协会联盟合作开展的四项基于人群的卵巢癌病例对照研究来验证这种关联。尽管在一项包含961例病例和922例对照的研究中，rs2271077与显著增加的风险相关（优势比（OR）=1.37，95%置信区间（CI）=1.06-1.77），但在其余三项包含1452例病例和1954例对照的研究中，我们未观察到关联（OR=0.83，95%CI=0.66-1.04）。因此，似乎没有强有力的证据表明GALNT2单核苷酸多态性rs2271077与卵巢癌风险之间存在关联。
