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Int J Mol Epidemiol Genet 2012;3(3):252-261

Original Article
Genetic variation in telomere maintenance genes in relation to ovarian cancer

Holly R Harris, Immaculata De Vivo, Linda J Titus, Allison F Vitonis, Jason Y Y Wong, Daniel W Cramer, Kathryn L Terry

Obstetrics and Gynecology Epidemiology Center, Brigham and Women’s Hospital and Harvard Medical School, Boston,
Massachusetts, 02115, United States; Division of Nutritional Epidemiology, National Institute for Environmental Medicine,
Karolinska Institutet, Stockholm, 171 77, Sweden; Channing Laboratory, Department of Medicine, Brigham and Women’s
Hospital and Harvard Medical School, Boston, Massachusetts, 02115, United States; Department of Epidemiology, Harvard
School of Public Health, Boston, Massachusetts, 02115, United States; Department of Community & Family Medicine,
Dartmouth Medical School, Lebanon, New Hampshire, 03755, United States

Received July 29, 2012; accepted August 17, 2012; Epub August 31, 2012; Published September 15, 2012

Abstract: Telomeres are repetitive non-coding DNA sequences at the ends of chromosomes that provide protection against
chromosomal instability. Telomere length and stability are influenced by proteins, including telomerase which is partially
encoded by the TERT gene. Genetic variation in the TERT gene is associated with ovarian cancer risk, and predicts survival in
lung cancer and glioma. We investigated whether genetic variation in five telomere maintenance genes was associated with
survival among 1480 cases of invasive epithelial ovarian cancer in the population-based New England Case-Control Study.
Cox proportional hazard models were used to calculate hazard ratios and 95% confidence intervals. Overall we observed no
significant associations between SNPs in telomere maintenance genes and mortality using a significance threshold of p=0.
001. However, we observed some suggestive associations in subgroup analyses. Future studies with larger populations may
further our understanding of what role telomeres play in ovarian cancer survival. (IJMEG1207006).

Keywords: Ovarian cancer, survival, telomere length, SNPs, telomeres

Address all correspondence to:
Dr. Holly Harris
Ob/Gyn Epidemiology Center
Brigham and Women’s Hospital
221 Longwood Avenue
Boston, MA 02115-5804, USA.
Tel: 617-732-4895; Fax: 617-732-4899
E-mail: hharris3@partners.org