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Published on: February 21, 2018
Comparative analysis of IL6 promoter and receptor polymorphisms in myelodysplasia and multiple myeloma
I Aladzsity1, M Kovács, A Semsei
13rd Department of Internal Medicine, Semmelweis University, 1125 Budapest, Hungary.
Abstract:
The serum levels of interleukin 6 (IL6) are known to be elevated in two diseases of the elderly age, myelodysplastic syndrome (MDS) and multiple myeloma (MM). Authors suppose that one of the possible causes of this elevation could be a difference between these patients and healthy subjects in the frequency of polymorphic variants of the genes regulating IL6 levels. Scarce and contradictory comparative data are available for MM and to our best knowledge this is the first study on IL6 promoter and IL6 receptor (IL6R) polymorphism in MDS. Therefore we determined the Asp358Ala polymorphism of the IL6 receptor gene and the -174 G>C promoter polymorphism of the IL6 gene in blood samples of 102 MDS and 100 MM patients and 99 age- and sex-matched hospitalized controls had been tested for this purpose as well. There was no significant difference between patients with either disease and controls regarding IL6 promoter/L-6R. Authors therefore assume other mechanisms causing high IL6 levels are not related to either of these polymorphisms. Moreover authors consider important to propose a hypothesis how elements of signal transduction in iron metabolism might be involved in the development of MM and MDS in elderly age.
Insights
This study investigated genetic variations in interleukin 6 (IL6) and IL6 receptor (IL6R) in myelodysplastic syndrome (MDS) and multiple myeloma (MM) patients. No significant differences in IL6 gene polymorphisms were found between patients and controls, suggesting other factors influence elevated IL6 levels.
Area of Science:
- Immunology
- Genetics
- Geriatric Medicine
Background:
- Elevated serum interleukin 6 (IL6) levels are observed in myelodysplastic syndrome (MDS) and multiple myeloma (MM), common in the elderly.
- The precise causes for elevated IL6 in MDS and MM are not fully understood, prompting investigation into genetic factors.
Purpose of the Study:
- To investigate the association between IL6 gene promoter (-174 G>C) and IL6 receptor (IL6R; Asp358Ala) polymorphisms and the risk of MDS and MM.
- To explore potential genetic underpinnings for elevated IL6 serum levels in these hematological malignancies.
Main Methods:
- Genotyping of the IL6 -174 G>C promoter polymorphism and the IL6R Asp358Ala polymorphism was performed.
- Blood samples from 102 MDS patients, 100 MM patients, and 99 age- and sex-matched controls were analyzed.
Main Results:
- No statistically significant differences in the frequencies of the studied IL6 promoter and IL6R polymorphisms were observed between MDS patients, MM patients, and healthy controls.
- These findings indicate that the investigated polymorphisms are unlikely to be the primary cause of elevated IL6 levels in MDS and MM.
Conclusions:
- The elevated serum IL6 levels in MDS and MM are likely due to mechanisms other than the investigated IL6 and IL6R gene polymorphisms.
- Further research is warranted to explore alternative pathways, potentially involving signal transduction in iron metabolism, in the pathogenesis of MDS and MM in the elderly.
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