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Genome-wide Association Study Identifies Two Susceptibility Loci for Osteosarcoma

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2013

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Savage, S. A., L. Mirabello, Z. Wang, J. M. Gastier-Foster, R. Gorlick, C. Khanna, A. M. Flanagan, et al. 2013. “Genome-wide Association Study Identifies Two Susceptibility Loci for Osteosarcoma.” Nature genetics 45 (7): 799-803. doi:10.1038/ng.2645. http://dx.doi.org/10.1038/ng.2645.

Abstract

Osteosarcoma is the most common primary bone malignancy of adolescents and young adults. In order to better understand the genetic etiology of osteosarcoma, we performed a multi-stage genome-wide association study (GWAS) consisting of 941 cases and 3,291 cancer-free adult controls of European ancestry. Two loci achieved genome-wide significance: rs1906953 at 6p21.3, in the glutamate receptor metabotropic 4 [GRM4] gene (P = 8.1 ×10-9), and rs7591996 and rs10208273 in a gene desert on 2p25.2 (P = 1.0 ×10-8 and 2.9 ×10-7). These two susceptibility loci warrant further exploration to uncover the biological mechanisms underlying susceptibility to osteosarcoma.

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