Genetic predisposition for Multiple Myeloma. Identification and functional characterization of risk variants

Research output: ThesisDoctoral Thesis (compilation)

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Multiple myeloma (MM) is a blood malignancy originating from plasma cells. First-degree relatives of patients with MM have two- to four-fold higher risk of MM. However, the molecular basis remains largely unknown. This Ph.D. project aims to identify novel DNA sequence variants predisposing to MM through genome-wide association studies (GWAS) and, subsequently, characterize identified variants functionally.
Article I describes a systematic study where we screened for causal gene-regulatory variants at 21 MM risk loci. Article II describes a Nordic GWAS identifying the SOHLH2 (13q13.3) as a novel MM risk locus. Article III describes a novel international meta-analysis of GWAS data totalling 10 906 cases and 366 221 controls, identifying twelve new risk variants for MM accounted for by nine loci: 5q35.2 CPEB4, 6p22.2 BTN3A2, 9q21.33 DAPK1, 10q24.33 STN1, 10q25.2 MXI1,  19p13.3 NFIC, 21q11.2, SAMSN1 and a rare variant at 13q13.1 BRCA2. Finally, in Article IV, we explore the possibility of identifying transcription factors that mediate allele-specific gene-regulatory effects through combined use of CRISPR/Cas9 screening and epistasis analysis of gene expression data.
The work presented in this thesis provides new insight into the mechanisms underlying genetic predisposition for multiple myeloma.
Original languageEnglish
Awarding Institution
  • Department of Laboratory Medicine
  • Nilsson, Björn, Supervisor
  • Lopez de Lapuente Portilla, Aitzkoa, Supervisor
Award date2022 Oct 21
Place of PublicationLund
ISBN (Print)978-91-8021-294-6
Publication statusPublished - 2022

Bibliographical note

Defence details
Date: 2022-10-21
Time: 13:00
Place: Belfragesalen, BMC D15, Klinikgatan 32 i Lund. Join by Zoom:
External reviewer(s)
Name: Trynka, Gosia
Title: Head of Immune Genomics Group, Wellcome Sanger Institute and Director of Experimental Sciences, Open Targets
Affiliation: Wellcome Sanger Institute, Open Targets

Subject classification (UKÄ)

  • Medical Genetics

Free keywords

  • GWAS
  • multiple myeloma
  • CRISPR/Cas9
  • cancer genetics
  • functional characterization
  • Germline variants


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