On the interplay of telomeres, nevi and the risk of melanoma.
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 articleSubject
TelomereHumans
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
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https://hdl.handle.net/10161/17988Published Version (Please cite this version)
10.1371/journal.pone.0052466Publication 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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Show full item recordScholars@Duke
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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