【摘 要】
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Background: Acute myeloid leukemia (AML) is a form of cancer that is characterized by infiltration of the bone marrow, blood, and other tissues by proliferative, clonal, abnormally differentiated cell
【机 构】
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Department of Laboratory Medicine, West China Hospital of Sichuan University, Chengdu 610041, China
【出 处】
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四川省医学会第十六次检验医学学术会议
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Background: Acute myeloid leukemia (AML) is a form of cancer that is characterized by infiltration of the bone marrow, blood, and other tissues by proliferative, clonal, abnormally differentiated cells of the hematopoietic system.Chemokine Stromal cell-derived factor 1 (SDF-1) and its receptor CXC Receptor 4 (CXCR4) have crucial roles in malignant cell invasion.Genetic polymorphisms may contribute to the differences in the expression level and activities of SDF-1/CXCR4 pathway.The study aimed to determine the association between the polymorphisms located on the SDF-1 (rs1801157, G > A) and CXCR4 (rs2228014, C > T) encoding genes and susceptibility and leukemia cell dissemination in A ML.Methods: For this purpose 926 individuals including 466 de novo AML patients and 460 healthy controls were been genotyped for rs1801157 and rs2228014 using DNA Sanger Sequencing.Results: Genotypes distribution of CT and CT + TT for rs2228014 had significantly increased in the AML patients compared with healthy controls (OR: 1.36, p =0.04;OR: 1.34, p =0.04;respectively).However, rs1801157 demonstrated no significant differences in genotypes distribution and allele frequency between AML patients and healthy controls.For the two combined SNPs, there was no significant proportion difference of the wild GG-CC genotypes and non-GG-CC genotypes between AML patients and healthy controls.Meanwhile, the peripheral blood leukemia cell (PBLC) count were not statistically influenced by the genotypes of both rs1801157 and rs2228014.Conclusion: Genotype CT of rs2228014 appeared to significantly increase the AML risk, but played no role in leukemia cell invading the bloodstream.Rs1801157 and the two combined SNPs were not associated with either increased AML risk or extramedullary leukemia cell dissemination.
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