Research Article Details
| Article ID: | A24447 |
| PMID: | 22884299 |
| Source: | Clin Res Hepatol Gastroenterol |
| Title: | PNPLA3, a genetic marker of progressive liver disease, still hiding its metabolic function? |
| Abstract: | Non-alcoholic fatty liver disease (NAFLD) is an emerging epidemic disease. It represents a large spectrum of liver diseases, and affects both adults and children. The etiology of NAFLD is multifactorial. Indeed, several events such as caloric imbalance including sedentary lifestyle, obesity and/or a predisposing genetic background are key players in the increasing risk for NAFLD development and its progression. Recently, a sequence variation within the gene encoding for patatin-like phospholipase containing 3 (PNPLA3, rs738409) was found to modulate steatosis, inflammation and fibrosis in NAFLD. It was also demonstrated as a novel genetic marker associated with progressive ALD (alcoholic liver disease). In this mini-review, we summarize the current knowledge on (i) PNPLA3 variant(s) in the pathogenesis of liver diseases, and (ii) PNPLA3 gene regulation and potential function in liver. |
| DOI: | 10.1016/j.clinre.2012.06.014 |
| 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 | |
|---|---|---|---|---|---|
| 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 |