PNPLA3 and TNF-&amp;lt;i&amp;gt;α&amp;lt;/i&amp;gt; G238A Genetic Polymorphisms in Egyptian Patients with Different Grades of Severity of NAFLD

Hegazy, Maha A.; Samie, Rasha M. Abdel; Ezzat, Ahmed; Ramadan, Nagwa; Rashed, Laila Ahmed; Elsayed, Ahmed

doi:10.4236/ojgas.2016.63008

Cited by 6 publications

(4 citation statements)

References 45 publications

(54 reference statements)

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“…These results agree with Wood et al, [19] who reported that individuals harbouring the G-allele of rs738409 PNPLA3 gene were susceptible to NAFLD. Also, the obtained results agree with Hegazy et al, [20] who found that there is a strong association between the PNPLA3 rs738409 G allele and the susceptibility to NAFLD and its progression in Egyptian patients. Moreover, Medhat et al, [21] confirmed the association of the PNPLA3 rs738409 G allele with the susceptibility to NAFLD and its progression to NASH in Egyptian patients.…”

Section: Resultssupporting

confidence: 91%

PNPLA3 and GCKR Gene Polymorphisms influence genetic Susceptibility to NAFLD in Obese Egyptians

Mahmoud

Shousha

Nahass

et al. 2020

Frontiers in Scientific Research and Technology

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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.

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Section: Resultssupporting

confidence: 91%

PNPLA3 and GCKR Gene Polymorphisms influence genetic Susceptibility to NAFLD in Obese Egyptians

Mahmoud

Shousha

Nahass

et al. 2020

Frontiers in Scientific Research and Technology

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“…US scanning is considered as the first-line imaging investigation in patients with suspected liver disorder. Highly significant direct correlations between the US grading of steatosis, grading of liver steatosis by histology, and the presence or absence of NASH by the NAFLD activity score were found in previous studies 14,16,18…”

Section: Discussionmentioning

confidence: 66%

<p>Abdominal subcutaneous fat thickness and homeostasis model assessment of insulin resistance as simple predictors of nonalcoholic steatohepatitis</p>

Hegazy

Samy²,

Tawfik³

et al. 2019

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Background: Obesity, insulin resistance, and diabetes are major risk factors for nonalcoholic fatty liver disease (NAFLD). This study aims to evaluate the association between different grades of NAFLD and abdominal subcutaneous fat thickness with the homeostasis model assessment of insulin resistance (HOMA-IR). Methods: In this pilot study, 59 obese nondiabetic participants with NAFLD were enrolled. Total cholesterol, Hb A1c , and HOMA-IR were measured. Abdominal subcutaneous fat thickness in the midline just below the xiphoid process in front of the left lobe of the liver (LSFT) and in the umbilical region (USFT), and the degree of hepatic steatosis, were evaluated by ultrasound scans, and their correlation with the degree of steatosis and the NAFLD Activity Score in liver biopsy was assessed. Results: Of the 59 studied participants, 15 had mild, 17 had moderate, and 27 had severe hepatic steatosis by abdominal ultrasound. The mean ± SD HOMA-IR level in NAFLD patients was 5.41±2.70. The severity of hepatic steatosis positively correlated with body mass index ( P <0.001), HOMA-IR ( P< 0.001), serum triglycerides ( P =0.001), LSFT ( P <0.001), and USFT ( P <0.001). Receiver operating characteristics analysis showed that LSFT at a cut-off of 3.45 cm is the most accurate predictor of severe hepatic steatosis, with 74.1% sensitivity and 84.4% specificity. The best cut-off of USFT for identifying severe hepatic steatosis is 4.55 cm, with 63% sensitivity and 81.3% specificity. Conclusion: Abdominal subcutaneous fat thicknesses in front of the left lobe of the liver and in the umbilical region, together with HOMA-IR, are reliable indicators of the severity of NAFLD in obese nondiabetic individuals.

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“…Nowadays, NAFLD is regarded as the leading cause of liver disease affecting 20%-35% of the general population (19).…”

Section: Discussionmentioning

confidence: 99%

In Silico and In Vitro Analyses of PNPLA3 rs738409 C>G Polymorphism in Patients With Non-alcoholic Fatty Liver Disease

et al. 2022

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Background: The polymorphism associated with liver fat content, which is well-known as PNPLA3 rs738409 (Patatin-like phospholipase domain-containing protein 3), is one of the critical subjects widely investigated in the literature regarding the prevalence of non-alcoholic fatty liver disease (NAFLD) worldwide. The present research aimed to study the bioinformatics investigations of this polymorphism together with the in vitro analyses among patients with NAFLD. Materials and Methods: In this case-control study, after performing bioinformatics analysis, the laboratory examination was performed in several steps. Genomic DNA was extracted from the blood of 53 NAFLD patients and 107 subjects with normal liver ultrasounds. PNPLA3 rs738409 was genotyped by the polymerase chain reaction-restriction fragment length polymorphism method. The laboratory test results, including fasting blood sugar, triglyceride, cholesterol, high-density lipoprotein, low-density lipoprotein, alanine aminotransferase, and aspartate aminotransferase were collected from medical records. Finally, statistical analysis was performed using SPSS software, version 18.0. Results: The frequency of the G allele was 56% and 36% among patients and in the control group, respectively. The frequency of genotypes was 35.8% and 47.7% (CC), 17% and 31.8% (CG), 47.2% and 20.6% (GG) in patients and control groups, respectively. The adjusted odds ratios for PNPLA3 rs738409 C>G were 3.0 (95% confidence interval [CI]: 1.28-6.98, P=.011) and 0.68 (95% CI: 0.25- 1.83, P = .44) for GG and CG genotypes, respectively. Conclusion: The findings showed the association between the GG genotype and the presence of NAFLD. Furthermore, the bioinformatics findings suggested the probable risk of the disease incidence regarding the change of hydropathic characteristics resulting from the amino acid substitution.

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PNPLA3 and TNF-<i>α</i> G238A Genetic Polymorphisms in Egyptian Patients with Different Grades of Severity of NAFLD

Cited by 6 publications

References 45 publications

PNPLA3 and GCKR Gene Polymorphisms influence genetic Susceptibility to NAFLD in Obese Egyptians

PNPLA3 and GCKR Gene Polymorphisms influence genetic Susceptibility to NAFLD in Obese Egyptians

<p>Abdominal subcutaneous fat thickness and homeostasis model assessment of insulin resistance as simple predictors of nonalcoholic steatohepatitis</p>

In Silico and In Vitro Analyses of PNPLA3 rs738409 C>G Polymorphism in Patients With Non-alcoholic Fatty Liver Disease

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