Expression patterns of hypoxia signaling pathway genes and their association with clinical biochemical parameters in acute myeloid leukemia patients of Assam: A case control study.
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BACKGROUND: Hypoxia signaling is a hallmark of Acute Myeloid Leukemia (AML) that propels tumor progression by activating angiogenesis and glycolysis. This study evaluates the expression profile of hypoxia-associated genes in AML patients and correlates these patterns with clinical biochemical parameters to assess their explanatory contributions in disease biology. METHOD: Whole blood was collected from de novo AML cases (N = 80) and controls (N = 80) with informed consent. RT-PCR analysis was performed to analyze the differential mRNA expression profiles of HIF-1α, VEGFA, VEGFR2, LDHA, and GLUT1 genes. Expression fold changes were calculated by comparative threshold (2-ΔΔCt) method, normalized against β-actin as internal reference. Clinical biochemical data for cases were evaluated against laboratory reference ranges. Statistical analyses were conducted using SPSS v25. RESULTS: Median age of AML patients was 29 years, with a male-to-female ratio of 1.67:1. All five target genes in cases showed significant upregulation in their expression (p < 0.001) versus control. Receiver operating characteristic analysis confirmed robust exploratory discriminative capacity of all five genes to distinguish the AML cohort from controls. Systemic biochemical profile of cases demonstrated marked deviations from normal reference ranges. Correlation analysis indicated active transcriptional enrichment of hypoxia-angiogenic and glycolytic signaling axes, with additional secondary exploratory trends. Finally, multivariable regression models for each biochemical parameter revealed several significant overall explanatory contributing associations of the five target genes, together with other important individual associations. CONCLUSION: Hypoxia signaling pathway genes are closely interlinked with systemic biochemistry of AML patients and that interrogating both the aspects synergistically may provide crucial insights into disease biology at diagnosis.