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Meta-analysis combining new and existing data sets confirms that the TERT-CLPTM1L locus influences melanoma risk

Journal of Investigative Dermatology
Publication Date
DOI: 10.1038/jid.2011.322
  • Article
  • Biology


Meta-analysis combining new and existing data sets confirms that the TERT-CLPTM1L locus influences melanoma risk Matthew H. Law1, Grant W. Montgomery1, Kevin M. Brown2, Q-MEGA and AMFS investigators3, Nicholas G. Martin1, Graham J. Mann4, Nicholas K. Hayward1, and Stuart MacGregor1 1Queensland Institute of Medical Research, Brisbane, QLD 4029, Australia 2Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA 4Westmead Institute of Cancer Research, University of Sydney at Westmead Millennium Institute and Melanoma Institute Australia, Westmead, NSW 2145 Australia Letter A number of GWAS have observed association between SNPs located in 5p15.33 with increased risk for a range of cancers, including some non-melanoma skin cancers (Baird, 2010). Contrary to the increased risk observed for other cancers the peak variant, rs401681 C allele, has been associated with a decreased risk for melanoma (OR=0.86, 95% CI 0.81– 0.91 p=5.0×10−8) (Stacey et al., 2009). There have been two attempts at independent replication. Nan et al., (2011) observed a similar direction of effect in a small sample (OR=0.73, 95% CI 0.59–0.91). However an additional replication study observed no evidence for association between rs401681 C allele and melanoma (OR=1.01, 95% CI 0.87– 1.19) (Pooley et al., 2010). As replication has been inconsistent, we present here unpublished Australian data and rationalize the findings. The 5p15.33 SNPs are located within or adjacent to two genes in strong LD, encoding Telomerase Reverse Transcriptase (TERT, MIM: 187270) and CLPTM1-like protein (CRR9p; CLPTM1L, MIM: 612585). CLPTM1L was identified as up-regulated in cisplatin resistant cancer cells (Yamamoto et al., 2001) and while a role for CLPTM1L should not be excluded little is known about its function. TERT is a striking candidate as it encodes the catalytic subunit of telomerase. Incomplete replacement of telomere repeat sequences by telomerase following their l

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