Research Article Details

Article ID: A26410
PMID: 20503453
Source: World J Gastroenterol
Title: Nonalcoholic fatty liver disease and HFE gene mutations: a Polish study.
Abstract: AIM: To describe a Polish population with nonalcoholic fatty liver disease (NAFLD) with regard to HFE gene mutations, as well as analyzing demographic and clinical data. METHODS: Sixty-two consecutive patients with biopsy-proven NAFLD were included in the study. Demographic, clinical, and laboratory data were summarized in a database. C282Y and H63D mutations of the HFE gene were analyzed using polymerase chain reaction-restriction fragment lenght polymorphism. RESULTS: The analyzed cohort consisted of 62 homogeneic Caucasian participants, 66.1% men and 33.9% women, with a median age of 48 years. The median body mass index was 29.05 kg/m(2). Hypercholesterolemia was observed in 74.2% of patients and hypertriglyceridemia in 32.2%; 16.1% had type 2 diabetes mellitus (DMt2). On liver biopsy, 22.6% of NAFLD patients were found to have severe fibrosis. There were no differences between frequencies of HFE gene mutations in subgroups of NAFLD patients with less and more severe liver fibrosis. Obesity, older age, female gender and DMt2 were associated with more advanced fibrosis in this Polish cohort, as well as higher glucose level, serum iron and transaminase aspartate aminotransferase/alanine aminotransferase ratio. CONCLUSION: HFE mutations conferred no additional hepatic fibrosis risk in NAFLD, but higher serum iron was a risk factor for severe liver damage in NAFLD, regardless of HFE mutations.
DOI: 10.3748/wjg.v16.i20.2531

Strategy ID Therapy Strategy Synonyms Therapy Targets Therapy Drugs
S03 Anti-fibrosis fibrosis Angiotensin Receptor Blocker (ARB); CCR2/CCR5 antagonist; Thyroid receptor β agonist; PEGylated human FGF21 analogue; Monoclonal antibody to lysyl oxidase-like 2 (LOXL2); Galectin-3 inhibitor; FGF19 variant Losartan; Cenicriviroc; VK-2809; MGL-3196; Pegbelfermin; Simtuzumab; GR-MD-02; NGM282 Details

Target ID Target Name GENE Action Class UniProtKB ID Entry Name

Diseases ID DO ID Disease Name Definition Class
I13 3146 Lipid metabolism disorder An inherited metabolic disorder that involves the creation and degradation of lipids. http://en.wikipedia.org/wiki/Lipid_metabolism disease of metabolism/ inherited metabolic disorder Details
I05 9352 Type 2 diabetes mellitus A diabetes that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin. http://en.wikipedia.org/wiki/Diabetes, http://en.wikipedia.org/wiki/Diabetes_mellitus_type_2 disease of metabolism/inherited metabolic disorder/ carbohydrate metabolic disorder/glucose metabolism disease/diabetes/ diabetes mellitus Details
I14 9970 Obesity An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness. https://en.wikipedia.org/wiki/Obesity disease of metabolism/acquired metabolic disease/ nutrition disease/overnutrition Details

Drug ID Drug Name Type DrugBank ID Targets Category Latest Progress
D328 Serine Chemical drug DB00133 SRR Improve insulin resistance Under clinical trials Details
D083 CLA Chemical drug DB01211 KCNH2; SLCO1B1; SLCO1B3 -- Under clinical trials Details
D316 S-adenosyl-L-methionine Chemical drug DB00118 GNMT cofactor Antiviral Under clinical trials Details
D199 L-alanine Chemical drug DB00160 KYNU -- Failed in clinical trials Details