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Published on: March 29, 2017
Increased frequency of Mediterranean fever gene variants in multiple myeloma
Serkan Celik1, Fatih Tangi2, Cagatay Oktenli3
1Division of Oncology, GATA Haydarpasa Training Hospital, Istanbul, Turkey.
Abstract:
High frequencies of inherited variants in the Mediterranean fever (MEFV) gene have been identified in patients with multiple myeloma (MM). The sample size of the present pilot study was small, therefore, the actual frequency of inherited variants in the MEFV gene could be investigated in patients with MM. Twenty-eight patients with MM and 65 healthy controls were included in the study. Six heterozygous and one homozygous (E148Q/E148Q) variant was identified in patients with MM. None of the patients had a family history compatible with familial Mediterranean fever. In the healthy control group, 11 heterozygous variants were identified. The difference in the overall frequency of the inherited variants in the MEFV gene between the MM patients and the controls was statistically significant (χ2=4.905; P=0.027). In conclusion, a high frequency of inherited variants in the MEFV gene was identified in patients with MM. Based on the current data, it is hypothesized that the MEFV gene is a cancer susceptibility gene. Additional evidence, such as familial aggregation, monozygotic versus dizygotic twin concordance, and tumors in genetically engineered model organisms, is required in order to support this hypothesis.
Insights
Inherited variants in the Mediterranean fever (MEFV) gene are more common in multiple myeloma (MM) patients than controls. This suggests the MEFV gene may increase cancer susceptibility.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- Multiple myeloma (MM) is a hematological malignancy.
- The Mediterranean fever (MEFV) gene is associated with autoinflammatory diseases.
- Previous studies suggest a potential link between MEFV variants and other conditions.
Purpose of the Study:
- To investigate the frequency of inherited variants in the MEFV gene among multiple myeloma patients.
- To compare MEFV variant frequencies between MM patients and healthy controls.
- To explore the potential role of the MEFV gene in cancer susceptibility.
Main Methods:
- A pilot study comparing 28 MM patients and 65 healthy controls.
- Genotyping for inherited variants in the MEFV gene.
- Statistical analysis (Chi-squared test) to compare variant frequencies.
Main Results:
- Six heterozygous and one homozygous (E148Q/E148Q) MEFV variant identified in MM patients.
- Eleven heterozygous MEFV variants found in the healthy control group.
- A statistically significant higher frequency of MEFV variants in MM patients compared to controls (P=0.027).
Conclusions:
- Inherited variants in the MEFV gene are significantly more frequent in multiple myeloma patients.
- The MEFV gene is hypothesized to be a cancer susceptibility gene.
- Further research, including familial aggregation and animal models, is needed to confirm this hypothesis.
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