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PDCD1 and PDCD1LG1 polymorphisms affect the susceptibility to multiple myeloma
Tetsuhiro Kasamatsu1, Maaya Awata2, Rei Ishihara2
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.
Single-nucleotide polymorphisms in the programmed cell death protein-1 (PDCD1) gene are linked to multiple myeloma (MM) susceptibility. Specific PDCD1 and PDCD1 ligand-1 (PDCD1LG1) variants influence MM clinical features, including bone lesions and treatment response.
Area of Science:
- Immunogenetics
- Oncology
- Molecular Biology
Background:
- Single-nucleotide polymorphisms (SNPs) in immune checkpoint genes, including programmed cell death protein-1 (PDCD1), programmed cell death protein-1 ligand-1 (PDCD1LG1), and cytotoxic T lymphocyte-associated antigen-4 (CTLA4), are associated with various cancers.
- The role of these genetic variations in the pathogenesis and clinical presentation of multiple myeloma (MM) requires further investigation.
Purpose of the Study:
- To investigate the association between PDCD1, PDCD1LG1, and CTLA4 gene polymorphisms and the susceptibility to multiple myeloma (MM).
- To evaluate the impact of these SNPs on the clinical features and treatment outcomes of MM patients.
Main Methods:
- Genotyping of PDCD1 (rs36084323, rs41386349, rs2227982), PDCD1LG1 (rs2297136, rs4143815), and CTLA4 (rs733618, rs11571316, rs231775, rs3087243) SNPs was performed using PCR-RFLP and TaqMan assays.
- Genomic DNA was analyzed from 124 MM patients and 211 healthy controls.
- Statistical analyses were conducted to compare genotype frequencies and assess associations with clinical parameters.
Main Results:
- A significantly higher frequency of the PDCD1 GCC/GCC haplotype (rs36084323/rs41386349/rs2227982) was observed in MM patients compared to controls.
- The PDCD1 rs2227982 CC genotype was associated with a higher incidence of bone lesions in MM patients.
- PDCD1LG1 rs2297136 high-expression genotypes (TT, TC) correlated with lower albumin levels, while rs4143815 high-expression genotypes (CC, CG) were linked to increased use of thalidomide and/or bortezomib.
Conclusions:
- The PDCD1 haplotype is associated with susceptibility to multiple myeloma.
- Specific PDCD1 (rs2227982) and PDCD1LG1 (rs2297136) polymorphisms significantly influence the clinical characteristics of multiple myeloma patients.
- CTLA4 polymorphisms did not show a significant association with MM clinical variables or overall survival.
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