Evidence map›Paper›PMID 41862865›Full record

ArticleBMC pediatrics2026

Association of PON1 gene polymorphisms, paraoxonase 1 gene expression and activity in Egyptian children and adolescents with sickle cell disease.

Diana Hanna, Amr I Risha, Mai M Eldaly, Hosnia Ragab, Maha Mahmoud Hamed Sakr, Alaa Nafea, Maha Abdelaziz Noah, Hala Mohammed Amin Abdelmoneim, Sara F Saadawy

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Article in BMC pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Diana HannaPediatric Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
Amr I RishaPediatric Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
Mai M EldalyMedical Biochemistry Department, Faculty of Medicine, Zagazig University, Zagazig, 44523, Egypt.
Hosnia RagabPublic Health and Community Medicine Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
Maha Mahmoud Hamed SakrClinical Pathology Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
Alaa NafeaPediatric Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
Maha Abdelaziz NoahPediatric Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
Hala Mohammed Amin AbdelmoneimPediatric Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
Sara F SaadawyMedical Biochemistry Department, Faculty of Medicine, Zagazig University, Zagazig, 44523, Egypt. sfsaadawi@medicne.zu.edu.eg.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionSickle cell disease (SCD) is defined by chronic oxidative stress, hemolysis, vaso-occlusive crisis (VOC), endothelial injury, and end-organ damage. Paraoxonase1 (PON-1) serves a significant function as an anti-inflammatory and antioxidant agent. This study investigates PON1c.55L > M and PON1c.192Q > R polymorphism frequency in Egyptian children and adolescents with SCD, as well as the impact of these polymorphisms on PON-1 gene expression and enzymatic activity.

methodsThe study recruited 70 SCD children in addition to 70 healthy matched participants as controls. Laboratory parameters, PON-1 gene molecular analysis, PON-1 gene expression, and enzymatic activity were investigated.

resultsPON-1 activity and expression were substantially reduced in patients with SCD than in controls (P < 0.001). We detected higher allelic frequencies of PON1c.192R (52.9% in SCD cases and 25.7% in controls). For PON1c.192Q > R, compared with the genotype QQ, we found genotype QR, and RR were significantly associated with increased SCD risk. Alternatively, the PON1c.55L > M variant allele had no significant association with SCD risk. Furthermore, SCD cases with the homozygote variant PON1c.192 RR, PON1c.55 MM genotypes exhibited decreased PON1 activity relative to controls possessing corresponding genotypes. SCD patients with the RR genotype in SCD exhibited notable reductions in RBC count, MCH, and MCHC, alongside substantial rises in WBCs, neutrophil count, LDH, ferritin, creatinine, cystatin C, and BUN levels. Additionally, substantial correlations were identified between the MM genotype variant and decreased RBC counts, alongside a notable increase in WBC count, serum ferritin, and cystatin C levels. A positive correlation between PON-1 activity and hematocrit (r = 0.26; P < 0.05) was identified in patients with SCD. Conversely, negative correlations were found with WBCs (r = -0.47; P < 0.001), creatinine (r = − 29; P < 0.05), cystatin C (r = − 37; P < 0.001) and ferritin levels (r = − 0.34; P < 0.05).

conclusionThe PON1c.55L > M and PON 1c.192Q > R gene polymorphisms in SCD cases influenced the PON-1 gene expression and activity. SCD cases with the variant PON1c.192 RR, PON1c.55 LL and MM genotypes exhibited downregulated PON1 activity. This reduction was correlated with elevated hemolysis and inflammation markers, ferritin levels, creatinine, cystatin C, and BUN levels, indicating a potential link between decreased PON1 activity and renal and cardiovascular dysfunction incidence.

Indexed as

Anemia, Sickle CellAryldialkylphosphatasePolymorphism, GeneticAdolescentCase-Control StudiesChildChild, PreschoolEgyptFemaleGene FrequencyGenetic Predisposition to DiseaseGenotypeHumansMaleAryldialkylphosphatasePON1 protein, humanExpressionPolymorphismPON-1Sickle cell disease

Identifiers

PMID41862865
PMCPMC13063545

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.