Altaf, Benash (2025) Pnpla3 variants, physiological parameters, inflammatory markers, and quality of life in metabolic associated fatty liver disease (MAFLD) patients in Pakistan. PhD thesis, Universiti Sains Malaysia.
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Abstract
Metabolic associated fatty liver disease (MAFLD) is characterised by liver fat accumulation associated with obesity, hypertension, diabetes, or other metabolic dysfunctions, leading to poor quality of life. Adiponutrin is crucial for lipid regulation, and single nucleotide polymorphism (SNP) of its gene PNPLA3 is associated with MAFLD in various populations, but no study has been reported among Pakistani population. The present study therefore aimed to investigate PNPLA3 variants (rs738408 and rs738409), physiological parameters, inflammatory markers and quality of life among MAFLD patients in Pakistan. A cross-sectional study was conducted at Aziz Fatimah Hospital and Aziz Fatimah Medical and Dental College, Pakistan after obtaining ethical approval. Using purposive sampling, 158 participants were enrolled, comprising 81 patients in MAFLD group and 77 healthy subjects in Control group. Demographic, anthropometric, PNPLA3 genotyping, physiological parameters (blood pressure, fasting blood sugar [FBS], liver enzymes and lipid profile) and inflammatory markers (C-reactive protein [CRP] and interleukin-6 [IL-6]) and quality of life (QOL) parameters were determined. PNPLA3 genotyping was performed using DNA extraction, polymerase chain reaction amplification and Sanger sequencing. Serum aspartate aminotransferase, alanine aminotransferase, total cholesterol and triglyceride were quantified by colorimetric assays while CRP and IL-6 by enzyme-linked immunosorbent assays. For rs738408, CT genotype was significantly more frequent in MAFLD group compared to Control group (30.90% vs. 16.90%, respectively), with 2.48-fold and 5.17-fold increased risks of MAFLD with CT and TT genotypes, respectively. Moreover, CT carriers had a 2.83-fold risk of moderate fatty liver while TT carriers had a 15.50-fold risk of severe disease. For rs738409, GG genotype was significantly more frequent in MAFLD patients compared to controls (13.60% vs. 3.90%, respectively) with a 4.57-fold risk of MAFLD and a 5.08-fold risk of moderate fatty liver. Among MAFLD group, 55.60% were hypertensive, 49.40% were diabetes and 76.50% were obese. Body mass index (BMI), systolic blood pressure (SBP), FBS, CRP and IL-6 were significantly higher in MAFLD group compared to Control group. Concerning quality of life, physical summary score and mental summary scores were significantly poor in MAFLD group. In conclusion, PNPLA3 variants rs738408 (CT genotype) and rs738409 (GG genotype), BMI, SBP, FBS, inflammation and poor QOL were significantly higher among MAFLD patients in Pakistan. These genotypes were associated with MAFLD susceptibility and disease severity. Hence, genetic screening for PNPLA3 variants together with physiological and inflammatory markers may facilitate early identification of high-risk individuals enabling timely interventions to halt disease progression and poor QOL
| Item Type: | Thesis (PhD) |
|---|---|
| Uncontrolled Keywords: | Metabolic associated fatty liver disease |
| Subjects: | R Medicine R Medicine > RA Public aspects of medicine > RA440-440.87 Study and teaching. Research R Medicine > RC Internal medicine > RC254-282 Neoplasms. Tumors. Oncology (including Cancer) |
| Divisions: | Kampus Kesihatan (Health Campus) > Pusat Pengajian Sains Perubatan (School of Medical Sciences) > Thesis |
| Depositing User: | MUHAMMAD AKIF AIMAN AB SHUKOR |
| Date Deposited: | 04 Nov 2025 08:15 |
| Last Modified: | 19 Nov 2025 04:04 |
| URI: | http://eprints.usm.my/id/eprint/63171 |
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