The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Genome-wide association study identifies novel loci predisposing to cutaneous melanoma†
Open accessAbstract
We performed a multistage genome-wide association study of melanoma. In a discovery cohort of 1804 melanoma cases and 1026 controls, we identified loci at chromosomes 15q13.1 (HERC2/OCA2 region) and 16q24.3 (MC1R) regions that reached genome-wide significance within this study and also found strong evidence for genetic effects on susceptibility to melanoma from markers on chromosome 9p21.3 in the p16/ARF region and on chromosome 1q21.3 (ARNT/LASS2/ANXA9 region). The most significant single-nucleotide polymorphisms (SNPs) in the 15q13.1 locus (rs1129038 and rs12913832) lie within a genomic region that has profound effects on eye and skin color; notably, 50% of variability in eye color is associated with variation in the SNP rs12913832. Because eye and skin colors vary across European populations, we further evaluated the associations of the significant SNPs after carefully adjusting for European substructure. We also evaluated the top 10 most significant SNPs by using data from three other genome-wide scans. Additional in silico data provided replication of the findings from the most significant region on chromosome 1q21.3 rs7412746 (P = 6 × 10(-10)). Together, these data identified several candidate genes for additional studies to identify causal variants predisposing to increased risk for developing melanoma.
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Cites
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442
Self-citationGenetic determinants of hair, eye and skin pigmentation in Europeans
Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Magnusson, K. P., Manolescu, A., Karason, A., Palsson, A., Thorleifsson, G., et al. (2007) · Nature Genetics · doi:10.1038/ng.2007.13 · Cited by 750 · cited 1×
“GWAS analyses have revealed several additional genes associated with skin pigmentation, including TYR (tyrosinase, chromosome 11q21) (9), TYRP1 (tyrosinase-related protein 1, chromosome 9p23) (10), SLC45A2 (solute carrier family 45, member 2, chromosome 5p13.”
BackgroundThe histone methyltransferase SETDB1 is recurrently amplified in melanoma and accelerates its onset
Ceol, C. J., Houvras, Y., Jane-Valbuena, J., Bilodeau, S., Orlando, D. A., Battisti, V., Fritsch, L., Lin, W. M., Hollmann, T. J., Ferré, F., et al. (2011) · Nature · doi:10.1038/nature09806 · Cited by 542
Han, J., Kraft, P., Nan, H., Guo, Q., Chen, C., Qureshi, A., Hankinson, S. E., Hu, F. B., Duffy, D. L., Zhao, Z. Z., et al. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000074 · Cited by 499
Self-citationSturm, R. A., Duffy, D. L., Zhao, Z. Z., Leite, F. P. N., Stark, M. S., Hayward, N. K., Martin, N. G., & Montgomery, G. W. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.11.005 · Cited by 378
Kang, T.-H., Lindsey-Boltz, L. A., Reardon, J. T., & Sancar, A. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0915085107 · Cited by 250
Cited by
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo
Jin, Y., Birlea, S. A., Fain, P. R., Ferrara, T. M., Ben, S., Riccardi, S. L., Cole, J. B., Gowan, K., Holland, P. J., Bennett, D. C., et al. (2012) · Nature Genetics · doi:10.1038/ng.2272 · Cited by 353
VEGAS2: Software for More Flexible Gene-Based Testing
Mishra, A., & Macgregor, S. (2015) · Twin Research and Human Genetics · doi:10.1017/thg.2014.79 · Cited by 257
Self-citationCommon germline variants of the human APOE gene modulate melanoma progression and survival
Ostendorf, B. N., Bilanovic, J., Adaku, N., Tafreshian, K. N., Tavora, B., Vaughan, R. D., & Tavazoie, S. F. (2020) · Nature Medicine · doi:10.1038/s41591-020-0879-3 · Cited by 108
Germline genetic determination of cancer progression and survival
Ostendorf, B. N., Tafreshian, K. N., Adaku, N., Bilanovic, J., Tavora, B., & Tavazoie, S. F. (2019) · doi:10.1101/576181 · Cited by 108
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
Metadata
- Authors
- Amos, C. I., Wang, L.-E., Lee, J. E., Gershenwald, J. E., Chen, W. V., Fang, S., Kosoy, R., Zhang, M., Qureshi, A. A., Vattathil, S., Schacherer, C. W., Gardner, J. M., Wang, Y., Tim Bishop, D., Barrett, J. H., MacGregor, S., Hayward, N. K., Martin, N. G., Duffy, D. L., Mann, G. J., Cust, A., Hopper, J., Brown, K. M., Grimm, E. A., Xu, Y., Han, Y., Jing, K., McHugh, C., Laurie, C. C., Doheny, K. F., Pugh, E. W., Seldin, M. F., Han, J., & Wei, Q.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2011-09-17
- Volume
- 20
- Issue
- 24
- Pages
- 5012-5023
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2101683587
- Cited by
- 200
- References
- 6
- FWCI
- 10.23
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Genome-wide association study identifies novel loci predisposing to cutaneous melanoma†. https://app.cochat.ai/papers/10.1093/hmg/ddr415
- The paper
- Amos, C. I., Wang, L.-E., Lee, J. E., Gershenwald, J. E., Chen, W. V., Fang, S., Kosoy, R., Zhang, M., Qureshi, A. A., Vattathil, S., Schacherer, C. W., Gardner, J. M., Wang, Y., Tim Bishop, D., Barrett, J. H., MacGregor, S., Hayward, N. K., Martin, N. G., Duffy, D. L., . . . Wei, Q. (2011). Genome-wide association study identifies novel loci predisposing to cutaneous melanoma†. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddr415
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
