A genome-wide association study of marginal zone lymphoma shows association to the HLA region

Nat Commun. 2015 Jan 8;6:5751. doi: 10.1038/ncomms6751.


Marginal zone lymphoma (MZL) is the third most common subtype of B-cell non-Hodgkin lymphoma. Here we perform a two-stage GWAS of 1,281 MZL cases and 7,127 controls of European ancestry and identify two independent loci near BTNL2 (rs9461741, P=3.95 × 10(-15)) and HLA-B (rs2922994, P=2.43 × 10(-9)) in the HLA region significantly associated with MZL risk. This is the first evidence that genetic variation in the major histocompatibility complex influences MZL susceptibility.

Publication types

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

MeSH terms

  • Butyrophilins
  • Computational Biology
  • European Continental Ancestry Group / genetics*
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • Lymphoma, B-Cell, Marginal Zone / genetics*
  • Major Histocompatibility Complex / genetics*
  • Membrane Glycoproteins / genetics*
  • Polymorphism, Single Nucleotide / genetics*


  • BTNL2 protein, human
  • Butyrophilins
  • Membrane Glycoproteins

Grant support