The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi
Open accessAbstract
A high melanocytic nevi count is the strongest known risk factor for cutaneous melanoma. We conducted a genome-wide association study for nevus count using 297,108 SNPs in 1,524 twins, with validation in an independent cohort of 4,107 individuals. We identified strongly associated variants in MTAP, a gene adjacent to the familial melanoma susceptibility locus CDKN2A on 9p21 (rs4636294, combined P = 3.4 × 10−15), as well as in PLA2G6 on 22q13.1 (rs2284063, combined P = 3.4 × 10−8). In addition, variants in these two loci showed association with melanoma risk in 3,131 melanoma cases from two independent studies, including rs10757257 at 9p21, combined P = 3.4 × 10−8, OR = 1.23 (95% CI = 1.15–1.30) and rs132985 at 22q13.1, combined P = 2.6 × 10−7, OR = 1.23 (95% CI = 1.15–1.30). This provides the first report of common variants associated to nevus number and demonstrates association of these variants with melanoma susceptibility.
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Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
Saxena, R., Voight, B. F., Lyssenko, V., Burtt, N. P., de Bakker, P. I. W., Chen, H., Roix, J. J., Kathiresan, S., Hirschhorn, J. N., Daly, M. J., et al. (2007) · Science · doi:10.1126/science.1142358 · Cited by 2,843
Sturm, 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
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The Breast Cancer Susceptibility Collaboration (UK), Turnbull, C., Ahmed, S., Morrison, J., Pernet, D., Renwick, A., Maranian, M., Seal, S., Ghoussaini, M., Hines, S., et al. (2010) · Nature Genetics · doi:10.1038/ng.586 · Cited by 687
Uno, S., Zembutsu, H., Hirasawa, A., Takahashi, A., Kubo, M., Akahane, T., Aoki, D., Kamatani, N., Hirata, K., & Nakamura, Y. (2010) · Nature Genetics · doi:10.1038/ng.612 · Cited by 259
Digital Quantification of Human Eye Color Highlights Genetic Association of Three New Loci
Liu, F., Wollstein, A., Hysi, P. G., Ankra-Badu, G. A., Spector, T. D., Park, D., Zhu, G., Larsson, M., Duffy, D. L., Montgomery, G. W., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000934 · Cited by 191
Self-citationGenome-wide association studies of pigmentation and skin cancer: a review and meta-analysis
Gerstenblith, M. R., Shi, J., & Landi, M. T. (2010) · Pigment Cell & Melanoma Research · doi:10.1111/j.1755-148x.2010.00730.x · Cited by 128
The Myocardial Infarction Genetics Consortium, Shea, J., Agarwala, V., Philippakis, A. A., Maguire, J., Banks, E., DePristo, M., Thomson, B., Guiducci, C., Onofrio, R. C., et al. (2011) · Nature Genetics · doi:10.1038/ng.871 · Cited by 87
Metadata
- Authors
- Falchi, M., Bataille, V., Hayward, N. K., Duffy, D. L., Bishop, J. A. N., Pastinen, T., Cervino, A., Zhao, Z. Z., Deloukas, P., Soranzo, N., Elder, D. E., Barrett, J. H., Martin, N. G., Bishop, D. T., Montgomery, G. W., & Spector, T. D.
- Venue
- Nature Genetics
- Published
- 2009-07-05
- Volume
- 41
- Issue
- 8
- Pages
- 915-919
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2062532725
- Cited by
- 226
- References
- 2
- FWCI
- 13.72
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi. https://app.cochat.ai/papers/10.1038/ng.410
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- Falchi, M., Bataille, V., Hayward, N. K., Duffy, D. L., Bishop, J. A. N., Pastinen, T., Cervino, A., Zhao, Z. Z., Deloukas, P., Soranzo, N., Elder, D. E., Barrett, J. H., Martin, N. G., Bishop, D. T., Montgomery, G. W., & Spector, T. D. (2009). Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi. Nature Genetics. https://doi.org/10.1038/ng.410
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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.
