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Int J Mol Epidemiol Genet 2010;1(4):272-277.

Original Article
A polymorphism in the GALNT2 gene and ovarian cancer risk in four
population based case-control studies

Kathryn L Terry, Allison F Vitonis, Dena Hernandez, Galina Lurie, Honglin Song, Susan J Ramus, Linda Titus-Ernstoff, Michael
E Carney, Lynne R Wilkens, Aleksandra Gentry-Maharaj, Usha Menon, Simon A Gayther, Paul D Pharaoh, Marc T Goodman,
Daniel W Cramer, and Michael J Birrer on behalf of the Ovarian Cancer Association Consortium

Obstetrics and Gynecology Epidemiology Center, Department of Obstetrics and Gynecology, Brigham and Women’s
Hospital, Boston, Massachusetts, USA; National Institute of Aging, National Cancer Institute, Bethesda, Maryland,
USA; Cancer Research Center, University of Hawaii, Honolulu, Hawaii, USA; CR-UK Department of Oncology,
Strangeways Research Laboratory, University of Cambridge, Worts Causeway, Cambridge CB1 8RN, UK; Department
of Gynaecological Oncology, University College London EGA Institute for Women’s Health, London, United Kingdom;
Department of Pediatrics, Dartmouth Medical School, Lebanon, New Hampshire, USA; Cell and Cancer Biology
Branch, National Cancer Institute, Bethesda, Maryland, USA.

Received June 1, 2010; accepted July 18, 2010; available online July 26, 2010

Abstract: 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. (IJMEG1006002).

Key words: Ovarian cancer, MUC1, polymorphism

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Address all correspondence to:
Kathryn L. Terry, Sc.D.
Obstetrics Gynecology and Reproductive Biology
Obstetrics and Gynecology Epidemiology Center
Brigham and Women’s Hospital, 221 Longwood Avenue
RFB 368, Boston, MA 02115, Phone: 617-732-8596
Fax: 617 - 732 -4899
E-mail:
kterry@partners.org