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Updated: Mar 18, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Genome-wide association study identifies multiple susceptibility loci for multiple myeloma
Jonathan S Mitchell1, Ni Li1, Niels Weinhold2,3
1Division of Genetics and Epidemiology, The Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK.
This study identified eight new genetic risk loci for multiple myeloma (MM), a heritable cancer. The findings support a polygenic model for MM, enhancing our understanding of its genetic basis.
Area of Science:
- Genetics
- Oncology
- Human Genetics
Background:
- Multiple myeloma (MM) is a plasma cell malignancy with a known heritable component.
- Genome-wide association studies (GWAS) have identified genetic risk factors for MM, but individual studies lack the power to discover all loci.
Purpose of the Study:
- To conduct a large-scale meta-analysis of GWAS and replication studies to identify novel genetic risk loci for multiple myeloma.
- To enhance the understanding of the genetic architecture and biological underpinnings of MM predisposition.
Main Methods:
- A comprehensive meta-analysis combining existing GWAS data with a new GWAS.
- Replication analyses were performed on identified loci.
- A large cohort of 9,866 cases and 239,188 controls was utilized.
Main Results:
- Confirmed all nine previously known multiple myeloma risk loci.
- Discovered eight novel genetic risk loci for MM, including associations with genes such as JARID2, ATG5, and CDKN2A.
- Identified specific single nucleotide polymorphisms (SNPs) with significant associations (e.g., rs9372120, P=9.09 × 10(-15)).
Conclusions:
- The findings provide robust support for a polygenic model of multiple myeloma inheritance.
- The newly identified loci offer insights into the biological pathways involved in MM development and susceptibility.
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