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Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes
Journal article   Open access   Peer reviewed

Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes

Sonja I Berndt, Joseph Vijai, Yolanda Benavente, Nicola J Camp, Alexandra Nieters, Zhaoming Wang, Karin E Smedby, Geffen Kleinstern, Henrik Hjalgrim, Caroline Besson, …
Leukemia, Vol.36(12), pp.2835-2844
12/2022
DOI: 10.1038/s41375-022-01711-0
PMCID: PMC10337695
PMID: 36273105
url
https://doi.org/10.1038/s41375-022-01711-0View
Published (Version of record) Open Access

Abstract

Lymphoma risk is elevated for relatives with common non-Hodgkin lymphoma (NHL) subtypes, suggesting shared genetic susceptibility across subtypes. To evaluate the extent of mutual heritability among NHL subtypes and discover novel loci shared among subtypes, we analyzed data from eight genome-wide association studies within the InterLymph Consortium, including 10,629 cases and 9505 controls. We utilized Association analysis based on SubSETs (ASSET) to discover loci for subsets of NHL subtypes and evaluated shared heritability across the genome using Genome-wide Complex Trait Analysis (GCTA) and polygenic risk scores. We discovered 17 genome-wide significant loci (P < 5 × 10 ) for subsets of NHL subtypes, including a novel locus at 10q23.33 (HHEX) (P = 3.27 × 10 ). Most subset associations were driven primarily by only one subtype. Genome-wide genetic correlations between pairs of subtypes varied broadly from 0.20 to 0.86, suggesting substantial heterogeneity in the extent of shared heritability among subtypes. Polygenic risk score analyses of established loci for different lymphoid malignancies identified strong associations with some NHL subtypes (P < 5 × 10 ), but weak or null associations with others. Although our analyses suggest partially shared heritability and biological pathways, they reveal substantial heterogeneity among NHL subtypes with each having its own distinct germline genetic architecture.
Case-Control Studies Genetic Predisposition to Disease Genome-Wide Association Study Germ Cells Humans Lymphoma, Non-Hodgkin - genetics Polymorphism, Single Nucleotide Risk Factors

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