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العنوان
‏Relevance of PNPLA3, TM6SF2, HSD17B13, and GCKR genotypes to the risk of NAFLD in an Egyptian population/
المؤلف
Elmansoury, Nehal Samir Ibrahim Hassan .
هيئة الاعداد
باحث / نهال سمير ابراهيم حسن المنصور ى
مشرف / احمد وحيد محمود
مشرف / منال محمد محمود عبد المجبد
مشرف / احمد كمال على حسين
الموضوع
Pharmaceutical Biochemistry NAFLD - Egypt
تاريخ النشر
2024.
عدد الصفحات
59 p. :
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
العلوم الصيدلية
الناشر
تاريخ الإجازة
1/1/2024
مكان الإجازة
جامعة الاسكندريه - كلية الصيدلة - كيمياء صيدلية
الفهرس
Only 14 pages are availabe for public view

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from 59

Abstract

Metabolic dysfunction-associated steatotic liver disease (MASLD), formerly known as non-alcoholic fatty liver disease (NAFLD), is a frequent clinical condition globally. Single nucleotide polymorphisms (SNPs) associated with NAFLD have been proposed from the literature and based on bioinformatic screening. The association between NAFLD and genetic variants in Egyptians is still unclear. Hence, we sought to investigate the association of some genetic variants with NAFLD in Egyptians. Egyptians have been categorized into either the MASLD group (n = 205) or the healthy control group (n = 187). The severity of hepatic steatosis and liver fibrosis was assessed by a Fibroscan device. TaqMan-based genotyping assays were employed to explore the association of selected SNPs with MASLD. PNPLA3 rs738409 C>G variant is associated with the presence of MASLD with liver fibrosis, the severity of both hepatic steatosis and liver fibrosis, increased systolic and diastolic blood pressure and increased alanine aminotransferase (all P<0.05), while the TM6SF2 rs58542926 C>T, HSD17B13 rs9992651 G>A, and GCKR rs1260326 T>C variants are not (all P>0.05). The TM6SF2 rs58542926 T allele is associated with increased fasting