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Genome-wide association study identifies two susceptibility loci for osteosarcoma. Nature genetics Savage, S. A., Mirabello, L., Wang, Z., Gastier-Foster, J. M., Gorlick, R., Khanna, C., Flanagan, A. M., Tirabosco, R., Andrulis, I. L., Wunder, J. S., Gokgoz, N., Patiño-Garcia, A., Sierrasesúmaga, L., Lecanda, F., Kurucu, N., Ilhan, I. E., Sari, N., Serra, M., Hattinger, C., Picci, P., Spector, L. G., Barkauskas, D. A., Marina, N., de Toledo, S. R., Petrilli, A. S., Amary, M. F., Halai, D., Thomas, D. M., Douglass, C., Meltzer, P. S., Jacobs, K., Chung, C. C., Berndt, S. I., Purdue, M. P., Caporaso, N. E., Tucker, M., Rothman, N., Landi, M. T., Silverman, D. T., Kraft, P., Hunter, D. J., Malats, N., Kogevinas, M., Wacholder, S., Troisi, R., Helman, L., Fraumeni, J. F., Yeager, M., Hoover, R. N., Chanock, S. J. 2013; 45 (7): 799-803

Abstract

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

View details for DOI 10.1038/ng.2645

View details for PubMedID 23727862