Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer

Nat Genet. 2016 Dec;48(12):1544-1550. doi: 10.1038/ng.3685. Epub 2016 Oct 17.

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 × 10-8), 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.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Case-Control Studies
  • Female
  • Genetic Markers / genetics*
  • Genetic Predisposition to Disease*
  • Genetic Variation / genetics*
  • Genome-Wide Association Study*
  • HLA Antigens
  • Haplotypes / genetics
  • Humans
  • Male
  • Middle Aged
  • Mouth / metabolism
  • Mouth / pathology
  • Mouth / virology
  • Mouth Neoplasms / genetics*
  • Mouth Neoplasms / virology
  • Papillomaviridae / isolation & purification
  • Papillomavirus Infections / genetics*
  • Papillomavirus Infections / virology
  • Pharyngeal Neoplasms / genetics*
  • Pharyngeal Neoplasms / virology

Substances

  • Genetic Markers
  • HLA Antigens