Association of Nicotinamide-N-Methyltransferase gene rs694539 variant with patients with nonalcoholic steatohepatitis (NASH) in a cohort of Egyptian patients / Hedy Ayman Thabet Mohamed Badary ; Supervised Eman Medhat Hasan , Rasha Ahmed Abdalaziz , Dina Sabry Abdalfatah

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Hedy Ayman Thabet Mohamed Badary

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TextLanguage: English Publication details: Cairo : Hedy Ayman Thabet Mohamed Badary , 2016Description: 171 P. : charts , facsimiles ; 25cmOther title:

بالالتهاب الكبدي الدهني اللاكحولي في المرضى المصريين Nicotinamide-N-Methyltransferase gene rs694539 علاقة جين [Added title page title]

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Dissertation note: Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Tropical Medicine Summary: Nonalcoholic fatty liver disease (NAFLD) is one of the most common causes of chronic liver injury. It extends from simple steatosis, which is generally progressive, to NASH which may progress to liver fibrosis, liver cirrhosis, liver cell failure, and sometimes even hepatocellular carcinoma (HCC). Various genetic polymorphisms have been shown to play a key role in a pathogenesis of NAFLD and progression from simple steatosis to NASH with fibrosis.Objectives: Study the effect of single nucleotide polymorphisms (SNPs) in NNMT gene, namely rs694539 on susceptibility to NAFLD and disease progression. Method: 81 NAFLD patients and 80 controls subjected to full history, clinical examination, anthropometric measures, laboratory investigations, abdominal ultrasound. Liver biopsy done in 35 patients, while CAP and LSM using both Echosens® FIbroscan and ARFI done to all patients. PCR-RFLP was applied to detect SNPs in NNMT gene, rs694539 variant. Results: There is a definitive association between polymorphisms of rs694539 NNMT gene and NAFLD. In NAFLD patients subgroups; individuals with the AA genotype showed statistically significant increased risk for NASH, being present in 33% of patients versus 1.2% of controls (P<0.001), whereas individuals with the GG genotype were at less risk of NASH, being present in 21% of patients versus 63.8% of controls (P<0.001). The presence of the AA genotype of rs694539 NNMT gene significantly correlated with the degree of steatosis. Using stepwise multivariate regression analysis, waist circumference appeared to be an independent predictor of NAFLD (P value <0.001).Conclusion: There was an association between polymorphisms of the studied SNPs of rs694539 NNMT gene with the presence of NAFLD and the severity of the disease

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Holdings
Item type	Current library	Home library	Call number	Copy number	Status	Date due	Barcode
Thesis	قاعة الرسائل الجامعية - الدور الاول	المكتبة المركزبة الجديدة - جامعة القاهرة	Cai01.11.33.M.Sc.2016.He.A (Browse shelf(Opens below))		Not for loan		01010110069933000
CD - Rom	مخـــزن الرســائل الجـــامعية - البدروم	المكتبة المركزبة الجديدة - جامعة القاهرة	Cai01.11.33.M.Sc.2016.He.A (Browse shelf(Opens below))	69933.CD	Not for loan		01020110069933000

Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Tropical Medicine

Nonalcoholic fatty liver disease (NAFLD) is one of the most common causes of chronic liver injury. It extends from simple steatosis, which is generally progressive, to NASH which may progress to liver fibrosis, liver cirrhosis, liver cell failure, and sometimes even hepatocellular carcinoma (HCC). Various genetic polymorphisms have been shown to play a key role in a pathogenesis of NAFLD and progression from simple steatosis to NASH with fibrosis.Objectives: Study the effect of single nucleotide polymorphisms (SNPs) in NNMT gene, namely rs694539 on susceptibility to NAFLD and disease progression. Method: 81 NAFLD patients and 80 controls subjected to full history, clinical examination, anthropometric measures, laboratory investigations, abdominal ultrasound. Liver biopsy done in 35 patients, while CAP and LSM using both Echosens® FIbroscan and ARFI done to all patients. PCR-RFLP was applied to detect SNPs in NNMT gene, rs694539 variant. Results: There is a definitive association between polymorphisms of rs694539 NNMT gene and NAFLD. In NAFLD patients subgroups; individuals with the AA genotype showed statistically significant increased risk for NASH, being present in 33% of patients versus 1.2% of controls (P<0.001), whereas individuals with the GG genotype were at less risk of NASH, being present in 21% of patients versus 63.8% of controls (P<0.001). The presence of the AA genotype of rs694539 NNMT gene significantly correlated with the degree of steatosis. Using stepwise multivariate regression analysis, waist circumference appeared to be an independent predictor of NAFLD (P value <0.001).Conclusion: There was an association between polymorphisms of the studied SNPs of rs694539 NNMT gene with the presence of NAFLD and the severity of the disease

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