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GENE - TERM ANNOTATION REPORT

RGD ID: 3000
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Lep
Name: leptin
Acc ID: DOID:0080208
Term: metabolic dysfunction-associated steatotic liver disease
Definition: A steatotic liver disease characterized by at least one of five cardiometabolic risk factors (adjusted for age, sex and ethnicity), alcohol consumption below 140g/week (female) or 210g/week (male), and no other discernible cause. The five cardiometabolic risk factors are:\n(1) Body mass index ≥ 25 kg/m2 (adult), 23 kg/m2 (adult Asian), or 85th percentile (pediatric); waist circumference > 94 cm (adult male), 80 cm (adult female), or 95th percentile (pediatric); or ethnicity adjusted equivalents.\n(2) Fasting serum glucose ≥ 5.6 mmol/L, 2-hr post-load glucose levels ≥ 7.8 mmol/L, glycated hemoglobin (HbA1c) ≥ 5.7% (39 mmol/L), type 2 diabetes, treatment for type 2 diabetes, previously diagnosed or treated type 2 diabetes (pediatric only), or serum glucose ≥ 11.1 mmol/L (pediatric only).\n(3) Blood pressure ≥ lower of 130/85 mmHg or 95th percentile (age < 13 years), or 130/85 mmHg (age ≥ 13 years); or specific hypertensive drug treatment.\n(4) Plasma triglycerides ≥ 1.15 mmol/L (age < 10 years) or 1.70 mmol/L (age ≥ 10 years); or lipid lowering treatment.\n(5) Plasma high-density lipoprotein cholesterol ≤ 1.0 mmol/L (adult male, pediatric) or 1.3 mmol/L (adult female); or lipid lowering treatment. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/37364816/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Lep IEP 25330346RGDassociated with Hepatitis C, Chronic;proteinLincreased expression:serum (human) 
Lep IEP 25330349RGDassociated with type 2 diabetes mellitus;protein:increased expression:serum (human) 
Lep ISOLEP (Homo sapiens)2311137RGDassociated with Type 2 Diabetes Mellitus;protein:increased expression:plasma 
Lep ISOLEP (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:24211274 PMID:36105184
Lep ISSLep (Mus musculus)13592920MouseDOOMIM:613282 | OMIM:613387 
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