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Implementation of genome-wide complex trait analysis to quantify the heritability in multiple myeloma

Lookup NU author(s): Professor Graham Jackson



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


A sizeable fraction of multiple myeloma (MM) is expected to be explained by heritable factors. Genome-wide association studies (GWAS) have successfully identified a number of common single-nucleotide polymorphisms (SNPs) influencing MM risk. While these SNPs only explain a small proportion of the genetic risk it is unclear how much is left to be detected by other, yet to be identified, common SNPs. Therefore, we applied Genome-Wide Complex Trait Analysis (GCTA) to 2,282 cases and 5,197 controls individuals to estimate the heritability of MM. We estimated that the heritability explained by known common MM risk SNPs identified in GWAS was 2.9% (+/- 2.4%), whereas the heritability explained by all common SNPs was 15.2% (+/- 2.8%). Comparing the heritability explained by the common variants with that from family studies, a fraction of the heritability may be explained by other genetic variants, such as rare variants. In summary, our results suggest that known MM SNPs only explain a small proportion of the heritability and more common SNPs remain to be identified.

Publication metadata

Author(s): Mitchell JS, Johnson DC, Litchfield K, Broderick P, Weinhold N, Davies FE, Gregory WA, Jackson GH, Kaiser M, Morgan GJ, Houlston RS

Publication type: Article

Publication status: Published

Journal: Scientific Reports

Year: 2015

Volume: 5

Online publication date: 24/07/2015

Acceptance date: 17/06/2015

Date deposited: 26/04/2016

ISSN (electronic): 2045-2322

Publisher: Nature Publishing Group


DOI: 10.1038/srep12473


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Funder referenceFunder name
Leukaemia Lymphoma Research Fund
Rosetrees Trust
Myeloma UK
C1298/A8362Cancer Research UK (Bobby Moore Fund)