Anthropometry, laboratory, and {PNPLA}3 polymorphisms in a novel model for early identification and evaluation of nonalcoholic fatty liver disease

Citation:
Mohamed, A. A., R. Al Dweik, R. A. Abdelghafour, A. Ramadan, A. M. Abbas, H. U. S. S. E. I. N. H. SAMIR, N. M. Muharram, R. I. Ahmed Elshiha, N. El-Salawy, doaa ghaith, et al., "Anthropometry, laboratory, and {PNPLA}3 polymorphisms in a novel model for early identification and evaluation of nonalcoholic fatty liver disease", Informatics in Medicine Unlocked, vol. 48, pp. 101513, 2024.

Abstract:

Background Some anthropometric, laboratory, and genetic variations, such as patatin-like phospholipase domain-containing protein 3 ({PNPLA}3) genetic variants, have been associated with nonalcoholic fatty liver disease ({NAFLD}). Liver biopsy is the most accurate {NAFLD} diagnostic method, but it is invasive; hence, noninvasive diagnostics are required for the early diagnosis and assessment of {NAFLD}. Patient and methods This prospective case-control study included 107 {NAFLD} patients and 107 healthy controls. All individuals underwent anthropometric measurements, abdominal ultrasonography, laboratory tests, and evaluation for {PNPLA}3 polymorphisms. Results Patients with {NAFLD} had higher levels of C-reactive protein ({CRP}), tumor necrosis factor-alpha ({TNF}-α), and interleukin-6 ({IL}-6) than healthy individuals (p = 0.03, p {\textless} 0.0001). Additionally, patients with {NAFLD} had substantially lower albumin (P = 0.01) and leptin (P {\textless} 0.0001) levels than healthy individuals. {BMI} leptin and {CRP} levels were independent indicators of {NAFLD} severity (p = 0.05–0.004). {GG} is the most prevalent genotype in patients with moderate to severe {NAFLD}. A novel model based on four markers (leptin, {CRP}, {BMI}, and {PNPLA}3 polymorphism) was developed. The {AUC} values for distinguishing between the healthy subjects and those with varying degrees of {NAFLD} severity (mild, moderate, and severe) were 0.99, 0.99, and 1.0, respectively. Conclusion Anthropometric measurements, such as {BMI} and laboratory results, including liver enzymes, {CRP}, inflammatory markers, lipid parameters, and genetic markers, especially {PNPLA}3 polymorphisms, can provide an accurate, sensitive, and specific noninvasive approach for the early identification and assessment of {NAFLD} and can guide its management. This may minimize the need for liver biopsy to assess {NAFLD}. Further large-scale studies are needed to confirm these findings and verify the model in larger studies.

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