Journal Article


Nathaniel Rothman
Stephen J Chanock
Karin E Smedby
James R Cerhan
Xifeng Wu
Kenneth Offit
Alexandra Nieters
Joseph F Fraumeni
Brian C H Chiu
Maria Grazia Ennas
and 102 others



polymorphism single nucleotide case control studies alleles genetic predisposition to disease tumor markers biological genetics haplotypes humans lymphoma follicular genome wide association study hla antigens chromosomes human

Genome-wide association study identifies five susceptibility loci for follicular lymphoma outside the HLA region. (2014)

Abstract Genome-wide association studies (GWASs) of follicular lymphoma (FL) have previously identified human leukocyte antigen (HLA) gene variants. To identify additional FL susceptibility loci, we conducted a large-scale two-stage GWAS in 4,523 case subjects and 13,344 control subjects of European ancestry. Five non-HLA loci were associated with FL risk: 11q23.3 (rs4938573, p = 5.79 × 10(-20)) near CXCR5; 11q24.3 (rs4937362, p = 6.76 × 10(-11)) near ETS1; 3q28 (rs6444305, p = 1.10 × 10(-10)) in LPP; 18q21.33 (rs17749561, p = 8.28 × 10(-10)) near BCL2; and 8q24.21 (rs13254990, p = 1.06 × 10(-8)) near PVT1. In an analysis of the HLA region, we identified four linked HLA-DRβ1 multiallelic amino acids at positions 11, 13, 28, and 30 that were associated with FL risk (pomnibus = 4.20 × 10(-67) to 2.67 × 10(-70)). Additional independent signals included rs17203612 in HLA class II (odds ratio [OR(per-allele)] = 1.44; p = 4.59 × 10(-16)) and rs3130437 in HLA class I (OR(per-allele) = 1.23; p = 8.23 × 10(-9)). Our findings further expand the number of loci associated with FL and provide evidence that multiple common variants outside the HLA region make a significant contribution to FL risk.
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Full list of authors on original publication

Nathaniel Rothman, Stephen J Chanock, Karin E Smedby, James R Cerhan, Xifeng Wu, Kenneth Offit, Alexandra Nieters, Joseph F Fraumeni, Brian C H Chiu, Maria Grazia Ennas and 102 others

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