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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
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IDO2 rs10109853 polymorphism affects the susceptibility to multiple myeloma
Tetsuhiro Kasamatsu1, Nao Hashimoto2, Nao Sakaya2
1Department of Laboratory Sciences, Gunma University Graduate School of Health Sciences, 3-39-22 Showa-machi, Maebashi, Gunma, 371-8514, Japan. kasamatsu@gunma-u.ac.jp.
Clinical and Experimental Medicine
|March 12, 2021
Summary
The IDO2 R248W RR genotype is linked to increased multiple myeloma (MM) susceptibility and severity of anemia in patients. This high-activity genotype is associated with younger age and less advanced disease stages.
Area of Science:
- Genetics
- Oncology
- Immunology
Background:
- Single-nucleotide polymorphisms (SNPs) in indoleamine 2,3-dioxygenase (IDO) genes are implicated in various diseases.
- IDO enzymes play crucial roles in immune regulation and cancer development.
Purpose of the Study:
- To investigate the association between IDO1 and IDO2 gene SNPs and multiple myeloma (MM) susceptibility.
- To explore the relationship between these SNPs and clinical features of MM.
Main Methods:
- Genotyping of IDO1 promoter -1849G/T (rs3824259) and IDO2 R248W (rs10109853) in 100 MM patients and 149 healthy controls.
- Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was utilized for genotype determination.
Main Results:
- A significantly higher frequency of the high-activity IDO2 R248W RR genotype was observed in MM patients compared to controls (OR=1.86, P=0.017).
- Patients with the IDO2 R248W RR genotype were younger (median 63 vs. 69 years, P=0.025) and had a lower incidence of ISS stage III disease.
- This genotype was also associated with higher hemoglobin levels at diagnosis (P=0.0032), indicating reduced anemia severity.
Conclusions:
- The IDO2 R248W polymorphism may contribute to MM susceptibility.
- The IDO2 R248W RR genotype is associated with specific clinical characteristics, including younger age, less advanced ISS stage, and less severe anemia at diagnosis.
- Neither IDO1 nor IDO2 SNPs significantly impacted overall survival in this cohort.
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