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Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo
Open accessAbstract
We previously reported a genome-wide association study (GWAS) identifying 14 susceptibility loci for generalized vitiligo. We report here a second GWAS (450 individuals with vitiligo (cases) and 3,182 controls), an independent replication study (1,440 cases and 1,316 controls) and a meta-analysis (3,187 cases and 6,723 controls) identifying 13 additional vitiligo-associated loci. These include OCA2-HERC2 (combined P = 3.80 × 10−8), MC1R (P = 1.82 × 10−13), a region near TYR (P = 1.57 × 10−13), IFIH1 (P = 4.91 × 10−15), CD80 (P = 3.78 × 10−10), CLNK (P = 1.56 × 10−8), BACH2 (P = 2.53 × 10−8), SLA (P = 1.58 × 10−8), CASP7 (P = 3.56 × 10−8), CD44 (P = 1.78 × 10−9), IKZF4 (P = 2.75 × 10−14), SH2B3 (P = 3.54 × 10−18) and TOB2 (P = 6.81 × 10−10). Most vitiligo susceptibility loci encode immunoregulatory proteins or melanocyte components that likely mediate immune targeting and the relationships among vitiligo, melanoma, and eye, skin and hair coloration.
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Metadata
- Authors
- 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., Luiten, R. M., Wolkerstorfer, A., van der Veen, J. P. W., Hartmann, A., Eichner, S., Schuler, G., van Geel, N., Lambert, J., Kemp, E. H., Gawkrodger, D. J., Weetman, A. P., Taïeb, A., Jouary, T., Ezzedine, K., Wallace, M. R., McCormack, W. T., Picardo, M., Leone, G., Overbeck, A., Silverberg, N. B., & Spritz, R. A.
- Venue
- Nature Genetics
- Published
- 2012-05-06
- Volume
- 44
- Issue
- 6
- Pages
- 676-680
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2073062251
- Cited by
- 353
- References
- 59
- FWCI
- 13.56
- Type
- journal article
- Language
- en
- Open access
- bronze
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- 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., Luiten, R. M., Wolkerstorfer, A., van der Veen, J. P. W., Hartmann, A., Eichner, S., Schuler, G., van Geel, N., Lambert, J., Kemp, E. H., . . . Spritz, R. A. (2012). Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. Nature Genetics. https://doi.org/10.1038/ng.2272
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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.
