Research Article Details
| Article ID: | A26554 |
| PMID: | 20216079 |
| Source: | J Clin Gastroenterol |
| Title: | An epidemiologic study on the incidence and significance of HFE mutations in a Korean cohort with nonalcoholic fatty liver disease. |
| Abstract: | BACKGROUND/AIM: The incidence and significance of HFE mutations (C282Y, H63D, and S65C) in nonalcoholic fatty liver disease (NAFLD) has not been investigated in Korea. METHODS: Mutation analysis of HFE gene and measurement of blood iron indices were carried out in 125 NAFLD patients and 221 controls. RESULTS: Neither C282Y nor S65C gene mutations were detected. The prevalence of the H63D mutation was higher in the NAFLD group (14.4%) than in the controls (7.2%) (P=0.032). The estimated odds ratio (OR) of NAFLD for H63D mutations was 3.09 (P=0.008) by multivariate analysis, and age, gender, obesity, diabetes mellitus, and hypercholesterolemia were independent variables associated with NAFLD. However, in the multivariate analysis containing interaction of the types of HFE mutations and gender, the prevalence of the H63D mutation was significantly higher in the male NAFLD group than in the male control group (OR=5.51, P=0.007); the difference of the prevalence between the NAFLD and the control group in females was not significant. The NAFLD patients with H63D mutations had higher levels of TS than those with the wild type (OR=3.14, P=0.048) by the multivariate analysis. A higher TS was significantly associated with the lower body mass index only in the male NAFLD group by multivariate analysis (OR=0.67, P=0.002). CONCLUSIONS: The presence of H63D mutations was an independent factor associated with NAFLD and elevated TS. Therefore, the H63D mutation may increase susceptibility to NAFLD probably associated with peripheral iron overload, especially in males. |
| DOI: | 10.1097/MCG.0b013e3181d347d9 |
| Strategy ID | Therapy Strategy | Synonyms | Therapy Targets | Therapy Drugs |
|---|
| 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 | |
|---|---|---|---|---|---|---|---|
| D083 | CLA | Chemical drug | DB01211 | KCNH2; SLCO1B1; SLCO1B3 | -- | Under clinical trials | Details |
| D094 | Cysteamine | Chemical drug | DB00847 | GSS stimulant | Renal drug | Under clinical trials | Details |
| D095 | Cysteamine bitartrate | Chemical drug | DB00847 | -- | -- | Under clinical trials | Details |