The Influence of CYP7A1 and CYP1A2 Genes on the Pathogenesis of Pediatric Immune Thrombocytopenia Purpura
Keywords:
CYP7A1, qRT-PCR, CYP1A2, gene expression, Pediatric ITPAbstract
Background: Immune thrombocytopenia (ITP) in pediatric patients is an autoimmune condition Illness characterized by persistent thrombocytopenia resulting from immune-mediated platelet depletion. The actual pathophysiology of ITP remains unclear, with hereditary variables likely impacting illness severity and development.
Objective: The aim of the study is to evaluate the gene expression of the CYP7A1 and CYP1A2 genes in patients with ITP in comparison to healthy controls, and to examine their potential significance as diagnostic biomarkers for the illness.
Methods: One hundred samples (fifty ITP cases and fifty controls) were analyzed from Wasit Oncology Center. Gene expression analysis of CYP7A1 and CYP1A2 was conducted via quantitative real-time polymerase chain reaction (qRT-PCR), normalized against GAPDH. The relative expression levels were evaluated with the Livak technique (2^-ΔΔCT), and a ROC analysis (receiver operating characteristic) was performed to determine its detection efficacy.
Results: The gene expression levels of CYP7A1 and CYP1A2 were significantly higher in ITP patients compared to healthy controls (P < 0.001).ROC analysis found that CYP7A1 (AUC = 1.000, cutoff = 9.13) and CYP1A2 (AUC = 1.000, cutoff = 17.72) demonstrated 100% sensitivity and specificity.
Conclusion: This study demonstrated a highly significant association between genes (CYP7A1 and CYP1A2) expression levels in ITP patients. This may indicate the role of genes in regulatory interaction in ITP pathogenesis
Downloads
References
Iseman MD, Bentz RR, Fraser RI, Locks MO, Ostrow JH, Sewell EM. Guidelines for the investigation and management of tuberculosis contacts. Am Rev Respir Dis. 1976;114(2):459–63.
Kim TO, Despotovic JM. Pediatric immune thrombocytopenia (ITP) treatment. Ann Blood. 2021;6(March):1–13.
Provan D, Arnold DM, Bussel JB, Chong BH, Cooper N, Gernsheimer T, et al. Updated international consensus report on the investigation and management of primary immune thrombocytopenia. Blood Adv. 2019;3(22):3780–817.
Neunert C, Terrell DR, Arnold DM, Buchanan G, Cines DB, Cooper N, et al. American Society of Hematology 2019 guidelines for immune thrombocytopenia. Blood Adv. 2019;3(23):3829–66.
Cheloff AZ, Kuter DJ, Al-Samkari H. Serum complement levels in immune thrombocytopenia: Characterization and relation to clinical features. Res Pract Thromb Haemost. 2020;4(5):807–12.
Mahamad S, Modi D, Al-Samkari H, Cuker A, Despotovic JM, Italiano JE, et al. Proceedings of the immune thrombocytopenia summit: new concepts in mechanisms, diagnosis, and management. Res Pract Thromb Haemost. 2023 Feb;7(2):100097.
Zufferey A, Kapur R, Semple JW. Pathogenesis and therapeutic mechanisms in immune thrombocytopenia (ITP). J Clin Med. 2017;6(2).
Repa JJ, Mangelsdorf DJ. R Eceptors in the R Regulation. Receptor. 2000;
Pullinger CR, Eng C, Salen G, Shefer S, Batta AK, Erickson SK, et al. Human cholesterol 7α-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype. J Clin Invest. 2002;110(1):109–17.
Russell DW. The enzymes, regulation, and genetics of bile acid synthesis. Annu Rev Biochem. 2003;72:137–74.
Iqbal MS, Sardar N, Peng K, Almutairi LA, Duan X, Tanvir F, et al. Association between CYP1A2 gene variants −163 C/A (rs762551) and −3860 G/A (rs2069514) and bladder cancer susceptibility. BMC Cancer. 2024 Dec 1;24(1).
Xu X, Zhang J, Xing H, Han L, Li X, Wu P, et al. Identification of metabolism-related key genes as potential biomarkers for pathogenesis of immune thrombocytopenia. Sci Rep. 2024 Dec 1;14(1).
Zhang Z, Wu X, Zhou M, Qi J, Zhang R, Li X, et al. Plasma Metabolomics Identifies the Dysregulated Metabolic Profile of Primary Immune Thrombocytopenia (ITP) Based on GC-MS. Front Pharmacol. 2022;13(May):1–10.
Vítek L. Bile acid malabsorption in inflammatory bowel disease. Inflamm Bowel Dis. 2015;21(2):476–83.
Modica S, Gadaleta RM, Moschetta A. Deciphering the nuclear bile acid receptor FXR paradigm. Nucl Recept Signal. 2010;8(1):nrs-08005.
Zhou X, Shan NN. The intersection of epigenetics and immune thrombocytopenia: new insights into disease mechanisms and treatments. Mol Biol Rep. 2025;52(1):1–15.
Faber MS, Jetter A, Fuhr U. Assessment of CYP1A2 activity in clinical practice: Why, how, and when? Basic Clin Pharmacol Toxicol. 2005;97(3):125–34.
Cornelis MC, Bae SC, Kim I, El-Sohemy A. CYP1A2 genotype, and rheumatoid arthritis in Koreans. Rheumatol Int. 2010;30:1349–54.
Wu C, Yang L, Tucker D, Dong YAN, Zhu L, Duan RUI, et al. Beneficial effects of exercise pretreatment in a sporadic Alzheimer’s rat model. Med Sci Sports Exerc. 2018;50(5):945.
Kumar R, Indrayan A. Receiver operating characteristic (ROC) curve for medical researchers. Indian Pediatr. 2011;48(4):277–87.
Wang MJ, Song Y, Guo XQ, Wei D, Cao XT, Sun Y, et al. The Construction of ITP Diagnostic Modeling Based on the Expressions of Hub Genes Associated with M1 Polarization of Macrophages. J Inflamm Res. 2022;15:5905–15.
Grimaldi-Bensouda L, Nordon C, Michel M, Viallard JF, Adoue D, Magy-Bertrand N, et al. Immune thrombocytopenia in adults: A prospective cohort study of clinical features and predictors of outcome. Haematologica. 2016;101(9):1039–45.
Downloads
Published
How to Cite
Issue
Section
License

This work is licensed under a Creative Commons Attribution 4.0 International License.
You are free to:
- Share — copy and redistribute the material in any medium or format
- Adapt — remix, transform, and build upon the material for any purpose, even commercially.
Terms:
- Attribution — You must give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use.
- No additional restrictions — You may not apply legal terms or technological measures that legally restrict others from doing anything the license permits.