Polymorphisms in immunosuppression-related genes are associated with AML

BackgroundAcute myeloid leukemia (AML) is a hematologic malignancy with poor overall survival (OS). The immunosuppressive microenvironment significantly impacts AML development and chemoresistance. Despite new immunotherapeutic strategies entering standard clinical care for various tumors, progress...

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Main Authors: Mingying Li, Jingjing Ye, Mengyuan Chang, Lei Feng, Tingting Liu, Di Zhang, Yuyan Wu, Yuechan Ma, Guangqiang Meng, Chunyan Ji, Tao Sun
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-02-01
Series:Frontiers in Immunology
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Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2025.1530510/full
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author Mingying Li
Mingying Li
Jingjing Ye
Jingjing Ye
Mengyuan Chang
Mengyuan Chang
Lei Feng
Lei Feng
Tingting Liu
Tingting Liu
Di Zhang
Di Zhang
Yuyan Wu
Yuyan Wu
Yuechan Ma
Yuechan Ma
Guangqiang Meng
Guangqiang Meng
Chunyan Ji
Chunyan Ji
Tao Sun
Tao Sun
author_facet Mingying Li
Mingying Li
Jingjing Ye
Jingjing Ye
Mengyuan Chang
Mengyuan Chang
Lei Feng
Lei Feng
Tingting Liu
Tingting Liu
Di Zhang
Di Zhang
Yuyan Wu
Yuyan Wu
Yuechan Ma
Yuechan Ma
Guangqiang Meng
Guangqiang Meng
Chunyan Ji
Chunyan Ji
Tao Sun
Tao Sun
author_sort Mingying Li
collection DOAJ
description BackgroundAcute myeloid leukemia (AML) is a hematologic malignancy with poor overall survival (OS). The immunosuppressive microenvironment significantly impacts AML development and chemoresistance. Despite new immunotherapeutic strategies entering standard clinical care for various tumors, progress in AML remains poor. Multi-omics analyses, such as single-cell transcriptomics, have revealed many potential new targets to improve AML prognosis from an immunological perspective.MethodsDNA from 307 AML patients and 316 healthy individuals were extracted. We detected nine single nucleotide polymorphisms (SNPs) in five immunosuppression-related genes (CIITA, CD200, CD163, MRC1 and LILRB4) in these samples. SNP genotyping was performed on the MassARRAY platform. We then analyzed the relationship between these SNPs and AML susceptibility, treatment response, and prognosis.ResultsOur findings indicated that rs4883263 in the CD163 gene is a protective factor for AML susceptibility and chromosomal karyotype abnormalities. Additionally, rs4883263 in CD163 was related to low PLT count at diagnosis, while rs2272022 in CD200 was protective against low PLT count. rs4780335 in CIITA was associated with high WBC count at diagnosis and worse OS. Furthermore, rs1048801 in LILRB4 was linked to worse AML treatment response, lower OS, and may be an independent prognostic risk factor for AML. Lastly, expressions of CD163, CIITA, LILRB4, and CD200 were higher in AML patients than that in normal controls.ConclusionsOur findings on SNP associations in AML immunosuppression-related genes provide important reference points for predicting treatment outcomes in AML patients.
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spelling doaj-art-cdfe099b3520469494a9144690213d032025-02-05T07:31:49ZengFrontiers Media S.A.Frontiers in Immunology1664-32242025-02-011610.3389/fimmu.2025.15305101530510Polymorphisms in immunosuppression-related genes are associated with AMLMingying Li0Mingying Li1Jingjing Ye2Jingjing Ye3Mengyuan Chang4Mengyuan Chang5Lei Feng6Lei Feng7Tingting Liu8Tingting Liu9Di Zhang10Di Zhang11Yuyan Wu12Yuyan Wu13Yuechan Ma14Yuechan Ma15Guangqiang Meng16Guangqiang Meng17Chunyan Ji18Chunyan Ji19Tao Sun20Tao Sun21Department of Hematology, Qilu Hospital of Shandong University, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, ChinaShandong Key Laboratory of Hematological Diseases and Immune Microenvironment, Qilu Hospital of Shandong University, Jinan, Shandong, ChinaDepartment of Hematology, Qilu Hospital of Shandong University, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, ChinaShandong Key Laboratory of Hematological Diseases and Immune Microenvironment, Qilu Hospital of Shandong University, Jinan, Shandong, ChinaDepartment of Hematology, Qilu Hospital of Shandong University, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, ChinaShandong Key Laboratory of Hematological Diseases and Immune Microenvironment, Qilu Hospital of Shandong University, Jinan, Shandong, ChinaDepartment of Hematology, Qilu Hospital of Shandong University, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, ChinaShandong Key Laboratory of Hematological Diseases and Immune Microenvironment, Qilu Hospital of Shandong University, Jinan, Shandong, ChinaDepartment of Hematology, Qilu Hospital of Shandong University, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, ChinaShandong Key Laboratory of Hematological Diseases and Immune Microenvironment, Qilu Hospital of Shandong University, Jinan, Shandong, ChinaDepartment of Hematology, Qilu Hospital of Shandong University, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, ChinaShandong Key Laboratory of Hematological Diseases and Immune Microenvironment, Qilu Hospital of Shandong University, Jinan, Shandong, ChinaDepartment of Hematology, Qilu Hospital of Shandong University, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, ChinaShandong Key Laboratory of Hematological Diseases and Immune Microenvironment, Qilu Hospital of Shandong University, Jinan, Shandong, ChinaDepartment of Hematology, Qilu Hospital of Shandong University, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, ChinaShandong Key Laboratory of Hematological Diseases and Immune Microenvironment, Qilu Hospital of Shandong University, Jinan, Shandong, ChinaDepartment of Hematology, Qilu Hospital of Shandong University, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, ChinaShandong Key Laboratory of Hematological Diseases and Immune Microenvironment, Qilu Hospital of Shandong University, Jinan, Shandong, ChinaDepartment of Hematology, Qilu Hospital of Shandong University, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, ChinaShandong Key Laboratory of Hematological Diseases and Immune Microenvironment, Qilu Hospital of Shandong University, Jinan, Shandong, ChinaDepartment of Hematology, Qilu Hospital of Shandong University, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, ChinaShandong Key Laboratory of Hematological Diseases and Immune Microenvironment, Qilu Hospital of Shandong University, Jinan, Shandong, ChinaBackgroundAcute myeloid leukemia (AML) is a hematologic malignancy with poor overall survival (OS). The immunosuppressive microenvironment significantly impacts AML development and chemoresistance. Despite new immunotherapeutic strategies entering standard clinical care for various tumors, progress in AML remains poor. Multi-omics analyses, such as single-cell transcriptomics, have revealed many potential new targets to improve AML prognosis from an immunological perspective.MethodsDNA from 307 AML patients and 316 healthy individuals were extracted. We detected nine single nucleotide polymorphisms (SNPs) in five immunosuppression-related genes (CIITA, CD200, CD163, MRC1 and LILRB4) in these samples. SNP genotyping was performed on the MassARRAY platform. We then analyzed the relationship between these SNPs and AML susceptibility, treatment response, and prognosis.ResultsOur findings indicated that rs4883263 in the CD163 gene is a protective factor for AML susceptibility and chromosomal karyotype abnormalities. Additionally, rs4883263 in CD163 was related to low PLT count at diagnosis, while rs2272022 in CD200 was protective against low PLT count. rs4780335 in CIITA was associated with high WBC count at diagnosis and worse OS. Furthermore, rs1048801 in LILRB4 was linked to worse AML treatment response, lower OS, and may be an independent prognostic risk factor for AML. Lastly, expressions of CD163, CIITA, LILRB4, and CD200 were higher in AML patients than that in normal controls.ConclusionsOur findings on SNP associations in AML immunosuppression-related genes provide important reference points for predicting treatment outcomes in AML patients.https://www.frontiersin.org/articles/10.3389/fimmu.2025.1530510/fullAMLimmunosuppression-related genestreatment responseprognosisSNPs
spellingShingle Mingying Li
Mingying Li
Jingjing Ye
Jingjing Ye
Mengyuan Chang
Mengyuan Chang
Lei Feng
Lei Feng
Tingting Liu
Tingting Liu
Di Zhang
Di Zhang
Yuyan Wu
Yuyan Wu
Yuechan Ma
Yuechan Ma
Guangqiang Meng
Guangqiang Meng
Chunyan Ji
Chunyan Ji
Tao Sun
Tao Sun
Polymorphisms in immunosuppression-related genes are associated with AML
Frontiers in Immunology
AML
immunosuppression-related genes
treatment response
prognosis
SNPs
title Polymorphisms in immunosuppression-related genes are associated with AML
title_full Polymorphisms in immunosuppression-related genes are associated with AML
title_fullStr Polymorphisms in immunosuppression-related genes are associated with AML
title_full_unstemmed Polymorphisms in immunosuppression-related genes are associated with AML
title_short Polymorphisms in immunosuppression-related genes are associated with AML
title_sort polymorphisms in immunosuppression related genes are associated with aml
topic AML
immunosuppression-related genes
treatment response
prognosis
SNPs
url https://www.frontiersin.org/articles/10.3389/fimmu.2025.1530510/full
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