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. 2019 Jul;83(4):231-238.
doi: 10.1111/ahg.12304. Epub 2019 Feb 15.

Regions of homozygosity as risk factors for multiple myeloma

Molly Went  1   2 , Amit Sud  1 , Ni Li  1 , David C Johnson  2 , Jonathan S Mitchell  1 , Martin Kaiser  2 , Richard S Houlston  1
Affiliations

Regions of homozygosity as risk factors for multiple myeloma

Molly Went et al. Ann Hum Genet. 2019 Jul.

Abstract

Genomic regions of homozygosity (ROH), detectable in outbred populations, have been implicated as determinants of inherited risk. To examine whether ROH is associated with risk of multiple myeloma (MM), we performed whole-genome homozygosity analysis using single-nucleotide polymorphism genotype data from 2,282 MM cases and 5,197 controls, with replication in an additional 878 MM cases and 7,083 controls. Globally, the distribution of ROH between cases and controls was not significantly different. However, one ROH at chromosome 9q21, harboring the B-cell transcription factor gene KLF9, showed evidence of a consistent association and may therefore warrant further investigation as a candidate risk factor for MM. Overall, our analysis provides little support for a homozygosity signature being a significant factor in MM risk.

Keywords: genetics; multiple myeloma; risk factor.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Cumulative distributions of regions of homozygosity (ROH) in cases and controls of (a) discovery, and (b) replication data sets. Each data point represents the cumulative fraction of the samples with the corresponding minimum run of homozygosity
Figure 2
Figure 2
Plot of overlapping region of discovery (navy) and replication regions of homozygosity (light blue) on (a) chromosome 9, and (b) chromosome 10. Coordinates are from the National Center for Biotechnology Information Build 37 human genome [Color figure can be viewed at wileyonlinelibrary.com]
Figure 2
Figure 2
Plot of overlapping region of discovery (navy) and replication regions of homozygosity (light blue) on (a) chromosome 9, and (b) chromosome 10. Coordinates are from the National Center for Biotechnology Information Build 37 human genome [Color figure can be viewed at wileyonlinelibrary.com]
See this image and copyright information in PMC

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