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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Germline variants at SOHLH2 influence multiple myeloma risk
Laura Duran-Lozano1, Gudmar Thorleifsson2, Aitzkoa Lopez de Lapuente Portilla1
1Hematology and Transfusion Medicine, Department of Laboratory Medicine, 221 84, Lund, Sweden.
Blood Cancer Journal
|April 20, 2021
Summary
A genome-wide study identified a new multiple myeloma (MM) risk variant in the SOHLH2 gene. This finding sheds light on the genetic factors contributing to MM susceptibility.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- Multiple myeloma (MM) arises from uncontrolled plasma cell proliferation.
- Genetic predisposition to MM is suggested by epidemiological data, but molecular underpinnings are unclear.
Purpose of the Study:
- To identify novel genetic risk factors for multiple myeloma (MM).
- To investigate the role of the SOHLH2 gene in MM susceptibility.
Main Methods:
- Conducted a large-scale genome-wide association study (GWAS) in four Nordic populations.
- Analyzed 5,320 MM cases and 422,289 controls.
- Performed functional assays including chromatin accessibility, luciferase assays, and chromatin looping analysis.
Main Results:
- Discovered a novel MM risk variant at the SOHLH2 gene locus (13q13.3).
- The identified risk allele (rs75712673) upregulates SOHLH2 expression in plasma cells.
- Demonstrated that rs75712673 affects transcriptional activity and interacts with the SOHLH2 promoter.
Conclusions:
- The SOHLH2 gene is a novel susceptibility locus for multiple myeloma.
- Genetic variants influencing SOHLH2 expression contribute to MM risk.
- Provides new molecular insights into the inherited basis of multiple myeloma.
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