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Adenosine deaminase and interleukin-1 receptor antagonist genetic polymorphisms among obese children with versus without metabolic dysfunction–associated fatty liver disease

Clin Exp Pediatr > Accepted Articles
DOI: https://doi.org/10.3345/cep.2025.00731    [Accepted]
Published online May 29, 2025.
Adenosine deaminase and interleukin-1 receptor antagonist genetic polymorphisms among obese children with versus without metabolic dysfunction–associated fatty liver disease
Hala M. Sakhr1, Mohammed H. Hassan2  , Azza Mohamed Taha1, Ali Helmi Bakri1
1Department of Pediatrics, Faculty of Medicine, South Valley University, Qena, Egypt
2Department of Medical Biochemistry, Faculty of Medicine, South Valley University, Qena, Egypt
Correspondence: 
Hala M. Sakhr, Email: mohammedhosnyhassaan@yahoo.com
Mohammed H. Hassan, Email: mohammedhosnyhassaan@yahoo.com
Received: 28 March 2025   • Revised: 22 April 2025   • Accepted: 8 May 2025
Abstract
Background
Metabolic disorder–associated fatty liver disease (MAFLD) in children is an emerging global health concern, particularly in terms of obesity and metabolic disturbances. Inflammation plays a crucial role in the pathogenesis of MAFLD, with adenosine deaminase (ADA) and interleukin-1 receptor antagonist (IL-1Ra) being potential contributors.
Purpose
This study aimed to assess the association between ADA G22A and IL-1Ra single nucleotide polymorphisms (SNPs) and MAFLD among a cohort of Egyptian children. It also aimed to evaluate the validity of VLDL/HDL-C and triglyceride-to-HDL-C ratios for predicting MAFLD in obese children.
Methods
One hundred obese children and 50 healthy controls were included. The obese group was further categorized into those with versus without MAFLD. IL-1Ra and ADA G22A SNPs were evaluated using conventional polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP)-PCR, respectively. VLDL/HDL and triglyceride-to-HDL ratios were calculated from the lipid profiles of the included participants.
Results
The obese children had significantly higher weight, weight Z-score, body mass index (BMI), BMI Z-score, and waist circumference than the healthy controls. These parameters were considerably higher in children with versus without MAFLD p˂0.05 all. The GG genotype and G allele of ADA G22A were significantly more frequent in the obese children versus controls (p˂0.05 for both); however, no significant difference was observed between obese children with versus without MAFLD. Regarding IL-1Ra polymorphisms, the *2/*2 genotype was more common in the controls and obese children without MFLD, whereas the *1/*2 genotype was prevalent in the obese children with MAFLD (p˂0.05 all). A VLDL/HDL-C cutoff ratio of >0.6308 showed 80% sensitivity, 58% specificity, a 65.6% positive predictive value (PPV), a 74.4% negative predictive value, and 69% accuracy at differentiating among MAFLD cases. The triglyceride-to-HDL-C ratio cutoff of >3.0685 demonstrated high specificity (88%) and a high PPV (84.2%) but moderate sensitivity (64%) and overall accuracy (76%).
Conclusion
The current study's findings support the possible genetic role of ADA G22A in childhood obesity, with a significant role for the IL-1Ra SNP in the development of MAFLD in obese children. The triglyceride-to-HDL-C ratio was more useful than the VLDL/HDL-C ratio for predicting pediatric MAFLD.
Key Words: Adenosine deaminase (ADA) G22A polymorphism, Interleukin-1 receptor antagonist, Metabolic dysfunction–associated fatty liver disease, VLDL/HDL-C ratio, Triglyceride-to-HDL-C ratio


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