@article{3085571, title = "Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer", author = "Lesseur, C. and Diergaarde, B. and Olshan, A.F. and Wünsch-Filho, V. and Ness, A.R. and Liu, G. and Lacko, M. and Eluf-Neto, J. and Franceschi, S. and Lagiou, P. and Macfarlane, G.J. and Richiardi, L. and Boccia, S. and Polesel, J. and Kjaerheim, K. and Zaridze, D. and Johansson, M. and Menezes, A.M. and Curado, M.P. and Robinson, M. and Ahrens, W. and Canova, C. and Znaor, A. and Castellsagué, X. and Conway, D.I. and Holcátová, I. and Mates, D. and Vilensky, M. and Healy, C.M. and Szeszenia-Dabrowska, N. and Fabiánová, E. and Lissowska, J. and Grandis, J.R. and Weissler, M.C. and Tajara, E.H. and Nunes, F.D. and De Carvalho, M.B. and Thomas, S. and Hung, R.J. and Peters, W.H.M. and Herrero, R. and Cadoni, G. and Bueno-De-Mesquita, H.B. and Steffen, A. and Agudo, A. and Shangina, O. and Xiao, X. and Gaborieau, V. and Chabrier, A. and Anantharaman, D. and Boffetta, P. and Amos, C.I. and McKay, J.D. and Brennan, P.", journal = "Nature Genetics", year = "2016", volume = "48", number = "12", pages = "1544-1550", publisher = "Nature Publishing Group", issn = "1061-4036, 1546-1718", doi = "10.1038/ng.3685", keywords = "cyclin dependent kinase inhibitor 2B; genomic DNA; leukocyte antigen; genetic marker; HLA antigen, adult; aged; allele; Article; cancer localization; controlled study; Europe; female; gene identification; gene locus; genetic association; genetic susceptibility; genome-wide association study; haplotype; human; human tissue; major clinical study; male; mouth cancer; North America; oropharynx cancer; papillomavirus infection; priority journal; promoter region; randomized controlled trial; South America; case control study; comparative study; genetic marker; genetic predisposition; genetic variation; genetics; isolation and purification; metabolism; middle aged; mouth; mouth tumor; Papillomaviridae; papillomavirus infection; pathology; pharynx cancer; virology, Aged; Case-Control Studies; Female; Genetic Markers; Genetic Predisposition to Disease; Genetic Variation; Genome-Wide Association Study; Haplotypes; HLA Antigens; Humans; Male; Middle Aged; Mouth; Mouth Neoplasms; Papillomaviridae; Papillomavirus Infections; Pharyngeal Neoplasms", abstract = "We conducted a genome-wide association study of oral cavity and pharyngeal cancer in 6,034 cases and 6,585 controls from Europe, North America and South America. We detected eight significantly associated loci (P < 5 × 10 â'8), seven of which are new for these cancer sites. Oral and pharyngeal cancers combined were associated with loci at 6p21.32 (rs3828805, HLA-DQB1), 10q26.13 (rs201982221, LHPP) and 11p15.4 (rs1453414, OR52N2-TRIM5). Oral cancer was associated with two new regions, 2p23.3 (rs6547741, GPN1) and 9q34.12 (rs928674, LAMC3), and with known cancer-related loci - 9p21.3 (rs8181047, CDKN2B-AS1) and 5p15.33 (rs10462706, CLPTM1L). Oropharyngeal cancer associations were limited to the human leukocyte antigen (HLA) region, and classical HLA allele imputation showed a protective association with the class II haplotype HLA-DRB1∗1301-HLA-DQA1∗0103-HLA-DQB1∗0603 (odds ratio (OR) = 0.59, P = 2.7 × 10-9). Stratified analyses on a subgroup of oropharyngeal cases with information available on human papillomavirus (HPV) status indicated that this association was considerably stronger in HPV-positive (OR = 0.23, P = 1.6 × 10-6) than in HPV-negative (OR = 0.75, P = 0.16) cancers. © 2016 Nature America, Inc. part of Springer Nature, All Rights reserved." }