The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Genome-wide association study identifies three new melanoma susceptibility loci
Open accessAbstract
We report a genome-wide association study for melanoma that was conducted by the GenoMEL Consortium. Our discovery phase included 2,981 individuals with melanoma and 1,982 study-specific control individuals of European ancestry, as well as an additional 6,426 control subjects from French or British populations, all of whom were genotyped for 317,000 or 610,000 single-nucleotide polymorphisms (SNPs). Our analysis replicated previously known melanoma susceptibility loci. Seven new regions with at least one SNP with P < 10−5 and further local imputed or genotyped support were selected for replication using two other genome-wide studies (from Australia and Texas, USA). Additional replication came from case-control series from the UK and The Netherlands. Variants at three of the seven loci replicated at P < 10−3: an SNP in ATM (rs1801516, overall P = 3.4 × 10−9), an SNP in MX2 (rs45430, P = 2.9 × 10−9) and an SNP adjacent to CASP8 (rs13016963, P = 8.6 × 10−10). A fourth locus near CCND1 remains of potential interest, showing suggestive but inconclusive evidence of replication (rs1485993, overall P = 4.6 × 10−7 under a fixed-effects model and P = 1.2 × 10−3 under a random-effects model). These newly associated variants showed no association with nevus or pigmentation phenotypes in a large British case-control series.
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Principal components analysis corrects for stratification in genome-wide association studies
Price, A. L., Patterson, N. J., Plenge, R. M., Weinblatt, M. E., Shadick, N. A., & Reich, D. (2006) · Nature Genetics · doi:10.1038/ng1847 · Cited by 10,248
Population Structure and Eigenanalysis
Patterson, N., Price, A. L., & Reich, D. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020190 · Cited by 5,280
LocusZoom: regional visualization of genome-wide association scan results
Pruim, R. J., Welch, R. P., Sanna, S., Teslovich, T. M., Chines, P. S., Gliedt, T. P., Boehnke, M., Abecasis, G. R., & Willer, C. J. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq419 · Cited by 2,707
Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer
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Self-citationMC1R variants, melanoma and red hair color phenotype: A meta‐analysis
Raimondi, S., Sera, F., Gandini, S., Iodice, S., Caini, S., Maisonneuve, P., & Fargnoli, M. C. (2008) · International Journal of Cancer · doi:10.1002/ijc.23396 · Cited by 349
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The impact of structural variation on human gene expression
GTEx Consortium, Chiang, C., Scott, A. J., Davis, J. R., Tsang, E. K., Li, X., Kim, Y., Hadzic, T., Damani, F. N., Ganel, L., et al. (2017) · Nature Genetics · doi:10.1038/ng.3834 · Cited by 495
Melzer, D., Pilling, L. C., & Ferrucci, L. (2020) · Nature Reviews Genetics · doi:10.1038/s41576-019-0183-6 · Cited by 363
Emerging trends in the epidemiology of melanoma
Nikolaou, V., & Stratigos, A. J. (2014) · British Journal of Dermatology · doi:10.1111/bjd.12492 · Cited by 359
Identification of 12 genetic loci associated with human healthspan
Zenin, A., Tsepilov, Y., Sharapov, S., Getmantsev, E., Menshikov, L. I., Fedichev, P. O., & Aulchenko, Y. (2019) · Communications Biology · doi:10.1038/s42003-019-0290-0 · Cited by 170
The genetics of melanoma: recent advances
Hill, V. K., Gartner, J. J., Samuels, Y., & Goldstein, A. M. (2013) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-091212-153429 · Cited by 86
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Metadata
- Authors
- Barrett, J. H., Iles, M. M., Harland, M., Taylor, J. C., Aitken, J. F., Andresen, P. A., Akslen, L. A., Armstrong, B. K., Avril, M.-F., Azizi, E., Bakker, B., Bergman, W., Bianchi-Scarrà, G., Bressac-de Paillerets, B., Calista, D., Cannon-Albright, L. A., Corda, E., Cust, A. E., Dębniak, T., Duffy, D., Dunning, A. M., Easton, D. F., Friedman, E., Galan, P., Ghiorzo, P., Giles, G. G., Hansson, J., Hocevar, M., Höiom, V., Hopper, J. L., Ingvar, C., Janssen, B., Jenkins, M. A., Jönsson, G., Kefford, R. F., Landi, G., Landi, M. T., Lang, J., Lubiński, J., Mackie, R., Malvehy, J., Martin, N. G., Molven, A., Montgomery, G. W., van Nieuwpoort, F. A., Novakovic, S., Olsson, H., Pastorino, L., Puig, S., Puig-Butille, J. A., Randerson-Moor, J., Snowden, H., Tuominen, R., Van Belle, P., van der Stoep, N., Whiteman, D. C., Zelenika, D., Han, J., Fang, S., Lee, J. E., Wei, Q., Lathrop, G. M., Gillanders, E. M., Brown, K. M., Goldstein, A. M., Kanetsky, P. A., Mann, G. J., MacGregor, S., Elder, D. E., Amos, C. I., Hayward, N. K., Gruis, N. A., Demenais, F., Bishop, J. A. N., & Bishop, D. T.
- Venue
- Nature Genetics
- Published
- 2011-10-09
- Volume
- 43
- Issue
- 11
- Pages
- 1108-1113
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2081596026
- Cited by
- 240
- References
- 7
- FWCI
- 13.70
- Type
- journal article
- Language
- en
- Open access
- green
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- Barrett, J. H., Iles, M. M., Harland, M., Taylor, J. C., Aitken, J. F., Andresen, P. A., Akslen, L. A., Armstrong, B. K., Avril, M.-F., Azizi, E., Bakker, B., Bergman, W., Bianchi-Scarrà, G., Bressac-de Paillerets, B., Calista, D., Cannon-Albright, L. A., Corda, E., Cust, A. E., Dębniak, T., . . . Bishop, D. T. (2011). Genome-wide association study identifies three new melanoma susceptibility loci. Nature Genetics. https://doi.org/10.1038/ng.959
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