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Updated: Apr 6, 2026

Retroviral Scanning: Mapping MLV Integration Sites to Define Cell-specific Regulatory Regions
Published on: May 28, 2017
Synergy of two human endogenous retroviruses in multiple myeloma
Kathrine L M Schmidt1, Annette J Vangsted2, Bettina Hansen1
1Department of Biomedicin, Aarhus University, DK-8000 Aarhus C, Denmark.
Abstract:
Multiple myeloma (MM) is a severe, incurable neoplasm of the plasma cells. In this study we have used genetic epidemiology to associate the risk of MM with endogenous retroviral loci in humans. We used SNP analysis on a Sequenom platform and statistical analysis in SPSS. Markers near two endogenous retroviral loci, HERV-Fc1 on chromosome X and HERV-K on chromosome 1, were associated with MM. Moreover, there was strong gene-gene interaction in relation to risk of MM. We take this as indirect confirmation of the association.
Insights
This study links human endogenous retroviral loci, HERV-Fc1 and HERV-K, to increased multiple myeloma (MM) risk. Genetic analysis revealed significant gene-gene interactions, suggesting a role for these retroviral elements in MM development.
Area of Science:
- Genetics
- Epidemiology
- Oncology
- Retroviral Research
Background:
- Multiple myeloma (MM) is a serious, incurable plasma cell cancer.
- The etiology of MM is not fully understood, prompting investigation into genetic risk factors.
- Human endogenous retroviruses (HERVs) are remnants of ancient retroviral infections integrated into the human genome, with potential roles in disease.
Purpose of the Study:
- To investigate the association between human endogenous retroviral loci and the risk of developing multiple myeloma.
- To explore potential gene-gene interactions influencing MM susceptibility.
- To utilize genetic epidemiology to identify novel risk factors for MM.
Main Methods:
- Employed genetic epidemiology techniques to analyze risk factors for multiple myeloma.
- Utilized Single Nucleotide Polymorphism (SNP) analysis on a Sequenom platform.
- Performed statistical analysis using SPSS software to evaluate associations and interactions.
Main Results:
- Identified significant associations between MM risk and genetic markers near two endogenous retroviral loci: HERV-Fc1 on chromosome X and HERV-K on chromosome 1.
- Observed strong evidence of gene-gene interactions contributing to the risk of multiple myeloma.
- These findings provide indirect confirmation of the association between specific HERV loci and MM.
Conclusions:
- Genetic variations near HERV-Fc1 and HERV-K loci are associated with an increased risk of multiple myeloma.
- Gene-gene interactions play a crucial role in the genetic susceptibility to MM.
- This study supports the hypothesis that endogenous retroviral elements may contribute to the pathogenesis of multiple myeloma.
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