Environmental and genetic factors have a crucial role in the development and progression of non-alcoholic fatty liver disease (NAFLD). The aim of the present study is to investigate the association between single nucleotide polymorphism (SNP) rs738409 in PNPLA3 gene and rs1260326 in GCKR gene and the development of NAFLD in obese Egyptian population. Forty obese subjects (20 with NAFLD and 20 without NAFLD) and 20 control subjects were enrolled in this study. All subjects were genotyped for (rs738409) PNPLA3 and (rs1260326) GCKR gene polymorphisms using the TaqMan assay. Results revealed that the homozygous mutant GG genotype of the PNPLA3 was the most frequent among patients with NAFLD (15%) as compared to controls (0%) (p=0.036). Regarding the GCKR rs1260326; the homozygous mutant TT genotype was most frequent among patients with NAFLD (40%) as compared to controls (20%) with trend significance (p=0.083) and as compared to obese non-FL group (10%) (p=0.014). The frequency of the T allele was found to be significantly higher in NAFLD patients (62.5%) compared to obese non-FL group (42.5%) (p=0.037). In conclusion our study confirmed the association between PNPLA3 (rs738409) and GCKR (rs1260326) polymorphisms and susceptibility to NAFLD.

BACKGROUND: Non-alcoholic fatty liver disease (NAFLD) has recently been considered as the most public liver problem worldwide and a major clinicopathologic health burden in the developed countries. Biochemical tests are important in verifying a better understanding of many diseases and hence help to have the right decisions for achieving better management. AIM: This study was conducted to assess biochemical markers in NAFLD Egyptian patients. METHODS: Forty obese subjects (32 females and 8 males, mean age was 42.32 ± 9.12 years) (20 with NAFLD and 20 without NAFLD) and 20 normal participants were selected. RESULTS: Body mass index (BMI) was 40.86 ± 5.45 in obese FL versus 22.07 ± 2.10 in control, p < 0.001 and versus 35.83 ± 5.94 in obese non-FL, p = 0.003. Alanine aminotransferase (ALT) was 57.30 ± 46.24 in obese FL versus 25.45 ± 7.12 in control, p = 0.003 and versus 27.35 ± 11.09 in obese non-FL, p = 0.005. Aspartate aminotransferase (AST) (41.40 ± 36.09 in obese FL vs. 21.7 ± 3.81 in control, p = 0.015 and vs. 24.05 ± 7.50 in obese non-FL, p = 0.032). Total bilirubin (T.Bil) (0.62 ± 0.25 in obese FL vs. 0.47 ± 0.15 in control, p = 0.014). Prothrombin time (PT) (86.80 ± 11.32 in obese FL vs. 97.86 ± 4.31 in control, p < 0.001) and International Normalization Ratio (INR) (1.11 ± 0.13 in obese FL vs. 1.01 ± 0.02 in control, p = 0.002). Triglycerides (TGs) (128.20 ± 43.49 in obese FL vs. 88.35 ± 24.26 in control, p < 0.001 and vs. 94.50 ± 31.65 in obese non-FL, p = 0.003). Ferritin (88.21 ± 54.88 in obese FL vs. 47.65 ± 32.07 in obese non-FL, p = 0.006). Alpha-fetoprotein (AFP) (2.42 ± 1.67 in obese FL vs. 1.20 ± 0.75 in control, p = 0.001). Fasting blood sugar (FBS) (119.70 ± 49.11 in obese FL vs. 84.10 ± 7.19 in control, p < 0.001 and vs. 80.50 ± 8.84 in obese non-FL, p < 0.001) and postprandial (P.P) (152.80 ± 82.86 in obese FL vs. 94.35 ± 3.70 in control, p < 0.001 and vs. 93.35 ± 7.77 in obese non-FL, p < 0.001). Serum high-density lipoprotein (HDL) level was significantly lower in NAFLD patients compared to obese non-FL (40.05 ± 5.81 vs. 41.9 ± 4.85, p < 0.001). CONCLUSION: NAFLD is associated with changes in biochemical parameters. Its early assessment can help in modifying the disease course and delaying complications.