LEPR, leptin receptor, 3953

N. diseases: 416; N. variants: 57
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE Whole-exome sequencing identifies novel LEPR mutations in individuals with severe early onset obesity. 23616257 2014
CUI: C0028754
Disease: Obesity
Obesity
0.700 Biomarker disease MGD RAGE drives the development of glomerulosclerosis and implicates podocyte activation in the pathogenesis of diabetic nephropathy. 12651605 2003
CUI: C0028754
Disease: Obesity
Obesity
0.700 Biomarker disease BEFREE Variations in the Obesity Gene "LEPR" Contribute to Risk of Type 2 Diabetes Mellitus: Evidence from a Meta-Analysis. 27195302 2016
CUI: C0028754
Disease: Obesity
Obesity
0.700 Biomarker disease BEFREE Obesity did not correlate with protein serum levels.We observed that obesity is more frequent in children with LEPR 223 AG+GG and LEPR 1019 GA+AA genotypes. 27015185 2016
CUI: C0028754
Disease: Obesity
Obesity
0.700 Biomarker disease BEFREE Four-week-old male leptin receptor-knockout db/db mice were used as controls for a model of obesity retaining low testosterone. 29895265 2018
CUI: C0028754
Disease: Obesity
Obesity
0.700 Biomarker disease BEFREE Although the effects of leptin have been more thoroughly documented in nonprimate species than in primates, a few human families with genetic mutations of the gene for leptin or the leptin receptor show obesity and impaired fertility. 12087500 2002
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE The typing of two microsatellite markers (D1S198 and D1S209), flanking the OBR gene, in 256 sib pairs showed no evidence for linkage with obesity. 9341859 1997
CUI: C0028754
Disease: Obesity
Obesity
0.700 Biomarker disease MGD Homozygosity for a null allele of the carbonic anhydrase II gene (Car2n) does not alter IOP while homozygosity for a mutation in the leptin receptor gene (Leprdb) that causes obesity and diabetes results in increased IOP. 11532192 2001
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE Recently published results revealed linkage of obesity traits to a chromosomal region near the leptin receptor gene (Lepr) locus in high body weight selected big and fat DU6i mice. 12951635 2003
CUI: C0028754
Disease: Obesity
Obesity
0.700 Biomarker disease CTD_human Integration of metabolomics and transcriptomics data to aid biomarker discovery in type 2 diabetes. 20567778 2010
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE Our results suggest that dietary fat intake modifies the effect of APOA5 and LEPR polymorphisms on serum triglycerides, cholesterol levels and obesity in young subjects. 26365669 2015
CUI: C0028754
Disease: Obesity
Obesity
0.700 Biomarker disease BEFREE Therapeutic approaches to the treatment of obesity based on OB protein ranging from OB protein by injection to OB-R receptor agonists and to upregulation of OB signalling pathways are under intense investigation. 9013731 1996
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE The aim of this study was to evaluate a genetically homogeneous population for associations between body composition variables and three common leptin receptor gene polymorphisms (K109R, Q223R, and K656N) that have potential functional significance as well as to assess the contributions of these polymorphisms to the variability of obesity. 11549688 2001
CUI: C0028754
Disease: Obesity
Obesity
0.700 Biomarker disease MGD Primary myocardial disease in the diabetic mouse. An ultrastructural study. 431046 1979
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE We present a 3-year-old male patient with severe early-onset obesity whose genetic analysis revealed a homozygous, novel, and pathogenic variant (c.1603+2T>C) in LEPR. 30778850 2019
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE In humans, mutations in the genes encoding leptin and the leptin receptor result in obesity syndromes and hypogonadotropic hypogonadism. 12087499 2002
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE This study designates a strong association for FTO and LEPR variants with the risk of obesity among Egyptian subjects. 30767572 2019
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE Leptin receptor gene mutations are a very rare cause of severe early-onset obesity. 22308862 2011
CUI: C0028754
Disease: Obesity
Obesity
0.700 Biomarker disease BEFREE Protein tyrosine phosphatase 1B (PTP1B) is a major negative regulator of both the insulin and leptin receptor phosphorylation which impacts insulin sensitivity and hence is a major therapeutic target for the treatment of type 2 diabetes and obesity. 31451955 2019
CUI: C0028754
Disease: Obesity
Obesity
0.700 AlteredExpression disease BEFREE The central expression and function of leptin receptor B (LepRb) have been extensively studied during the past two decades; however, the mechanisms by which LepRb signaling dysregulation contributes to the pathophysiology of obesity remains unclear. 30802281 2019
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE Hypertension in obesity and the leptin receptor gene locus. 10999797 2000
CUI: C0028754
Disease: Obesity
Obesity
0.700 Biomarker disease BEFREE In an effort to identify genetic polymorphisms in a potential candidate gene for obesity and type 2 diabetes mellitus (T2DM) in the Korean population, we have sequenced the LEPR gene. 16333525 2006
CUI: C0028754
Disease: Obesity
Obesity
0.700 AlteredExpression disease BEFREE Jejunum samples were collected from 164 humans with obesity (120 women; BMI (mean ± SD): 43.5 ± 6.6 kg/m(2) ) while they underwent Roux-en-Y gastric bypass surgery and from 18 nonobese humans (7 women; BMI: 23.5 ± 3.0 kg/m(2) ) undergoing distinct intestinal surgeries. mRNA expression of cholecystokinin (CCK), peptide YY3-36 (PYY), nesfatin1, ghrelin, ghrelin O-acyltransferase (GOAT), leptin, leptin receptor (leptinR), glucagon-like-peptide 1 receptor (GLP1R), serotonin transporter (SERT), tryptophan hydroxylase 1 (TPH1), and serotonin receptor 3A (5HT3A R) was determined with qRT-PCR. 26381270 2015
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE We obtained higher serum leptin levels in infants with the GG genotype for Lepr A668G, with haplotype GG/GG for Lep G2548A/A19G, and with GG/GG-GG (LepG2548A/A19G-Lepr A668G); thus, it seems that the genotype GG could be a protector against obesity development in infancy and adulthood. 28628399 2017
CUI: C0028754
Disease: Obesity
Obesity
0.700 Biomarker disease BEFREE Although the role of the leptin receptor (LEPR) in obesity is well recognized, its role in insulin sensitivity remains unknown. 15132731 2004