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On the interplay of telomeres, nevi and the risk of melanoma.

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Date
2012-01
Authors
Bodelon, Clara
Pfeiffer, Ruth M
Bollati, Valentina
Debbache, Julien
Calista, Donato
Ghiorzo, Paola
Fargnoli, Maria Concetta
Bianchi-Scarra, Giovanna
Peris, Ketty
Hoxha, Mirjam
Hutchinson, Amy
Burdette, Laurie
Burke, Laura
Fang, Shenying
Tucker, Margaret A
Goldstein, Alisa M
Lee, Jeffrey E
Wei, Qingyi
Savage, Sharon A
Yang, Xiaohong R
Amos, Christopher
Landi, Maria Teresa
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Abstract
The relationship between telomeres, nevi and melanoma is complex. Shorter telomeres have been found to be associated with many cancers and with number of nevi, a known risk factor for melanoma. However, shorter telomeres have also been found to decrease melanoma risk. We performed a systematic analysis of telomere-related genes and tagSNPs within these genes, in relation to the risk of melanoma, dysplastic nevi, and nevus count combining data from four studies conducted in Italy. In addition, we examined whether telomere length measured in peripheral blood leukocytes is related to the risk of melanoma, dysplastic nevi, number of nevi, or telomere-related SNPs. A total of 796 cases and 770 controls were genotyped for 517 SNPs in 39 telomere-related genes genotyped with a custom-made array. Replication of the top SNPs was conducted in two American populations consisting of 488 subjects from 53 melanoma-prone families and 1,086 cases and 1,024 controls from a case-control study. We estimated odds ratios for associations with SNPs and combined SNP P-values to compute gene region-specific, functional group-specific, and overall P-value using an adaptive rank-truncated product algorithm. In the Mediterranean population, we found suggestive evidence that RECQL4, a gene involved in genome stability, RTEL1, a gene regulating telomere elongation, and TERF2, a gene implicated in the protection of telomeres, were associated with melanoma, the presence of dysplastic nevi and number of nevi, respectively. However, these associations were not found in the American samples, suggesting variable melanoma susceptibility for these genes across populations or chance findings in our discovery sample. Larger studies across different populations are necessary to clarify these associations.
Type
Journal article
Subject
Telomere
Humans
Melanoma
Nevus
Dysplastic Nevus Syndrome
Skin Neoplasms
Disease Progression
Genetic Predisposition to Disease
Pigmentation
Risk Factors
Case-Control Studies
Sunlight
Environmental Exposure
Polymorphism, Single Nucleotide
Adolescent
Adult
Aged
Middle Aged
Female
Male
Young Adult
Permalink
https://hdl.handle.net/10161/17988
Published Version (Please cite this version)
10.1371/journal.pone.0052466
Publication Info
Bodelon, Clara; Pfeiffer, Ruth M; Bollati, Valentina; Debbache, Julien; Calista, Donato; Ghiorzo, Paola; ... Landi, Maria Teresa (2012). On the interplay of telomeres, nevi and the risk of melanoma. PloS one, 7(12). pp. e52466. 10.1371/journal.pone.0052466. Retrieved from https://hdl.handle.net/10161/17988.
This is constructed from limited available data and may be imprecise. To cite this article, please review & use the official citation provided by the journal.
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Scholars@Duke

Wei

Qingyi Wei

Professor in Population Health Sciences
Qingyi Wei, MD, PhD, Professor in the Department of Medicine, is Associate Director for Cancer Control and Population Sciences, Co-leader of CCPS and Co-leader of Epidemiology and Population Genomics (Focus Area 1). He is a professor of Medicine and an internationally recognized epidemiologist focused on the molecular and genetic epidemiology of head and neck cancers, lung cancer, and melanoma. His research focuses on biomarkers and genetic determinants for the DNA repair deficient phenotype and
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