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Lymphocyte Activation Gene 3 Single-Nucleotide Polymorphisms in Bone Marrow Failure Diseases
Yingying Sun1, Qiuying Cao1, Xiaoyu Zhao1
1Department of Hematology, Tianjin Medical University General Hospital, Tianjin, China.
Analytical Cellular Pathology (Amsterdam)
|March 10, 2022
Summary
Single-nucleotide polymorphisms in Lymphocyte Activation Gene 3 (LAG3) were studied in bone marrow failure diseases. The LAG3 rs1941928301 (C>T) variant may increase myelodysplastic syndrome risk.
Area of Science:
- Immunogenetics
- Hematology
- Oncology
Background:
- Lymphocyte Activation Gene 3 (LAG3) is an inhibitory checkpoint protein regulating immune homeostasis.
- LAG3 plays a role in malignant and autoimmune diseases.
- Investigating LAG3 single-nucleotide polymorphisms (SNPs) may reveal associations with bone marrow failure.
Purpose of the Study:
- To explore the association between LAG3 SNPs and bone marrow failure diseases.
Main Methods:
- Sanger sequencing was used to investigate LAG3 SNPs in 62 newly diagnosed bone marrow failure patients and 16 healthy controls.
- Statistical analysis was performed to determine the association between detected SNPs and bone marrow failure diseases.
Main Results:
- Eleven LAG3 SNPs were identified.
- The frequency of LAG3 rs1941928301 (C>T) was significantly different among myelodysplastic syndrome (MDS), severe aplastic anemia (SAA), and healthy control groups (P=0.013).
- rs1941928301 (C>T) was higher in the MDS group compared to SAA (P=0.004) and healthy controls (P=0.009).
Conclusions:
- LAG3 rs1941928301 (C>T) may be associated with an increased risk of MDS.
- No significant association was found between the detected LAG3 SNPs and susceptibility to SAA or immune-related pancytopenia.
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