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: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY
0.720 Biomarker disease BEFREE A cohort of n = 21 children living in Germany or Austria with monogenic obesity due to congenital leptin deficiency (group LEP, n = 6), leptin receptor deficiency (group LEPR, n = 6) and primarily heterozygous MC4 receptor deficiency (group MC4R, n = 9) was analyzed. 29568105 2018
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY
0.720 AlteredExpression disease BEFREE In conclusion, activation of the leptin receptor ob‑R is an important pathogenic mechanism of UC, and leptin receptor deficiency may provide resistance against TNBS‑induced colitis by inhibiting the NF‑κB and RhoA signaling pathways. 31702041 2019
CUI: C0028754
Disease: Obesity
Obesity
0.700 Biomarker disease BEFREE These include the hormone leptin, the short and long forms of the leptin receptor, uncoupling proteins, agouti protein, melanocortin receptor isoforms, melanin-concentrating hormone, and the proteins responsible for tub and fat, two monogenic mouse models of obesity. 9625380 1998
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE In conclusion, it is unlikely that mutations in the coding region of the long isoform of the leptin receptor are a common cause of juvenile onset obesity. 9144432 1997
CUI: C0028754
Disease: Obesity
Obesity
0.700 AlteredExpression disease BEFREE Effects of diet-induced obesity and voluntary exercise in a tauopathy mouse model: implications of persistent hyperleptinemia and enhanced astrocytic leptin receptor expression. 25132556 2014
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE This demonstrates an association between variation at the leptin receptor gene and obesity in humans. 9158141 1997
CUI: C0028754
Disease: Obesity
Obesity
0.700 Biomarker disease BEFREE Protein tyrosine phosphatase 1B (PTP1B) has been considered as a promising therapeutic target for type 2 diabetes mellitus (T2DM) and obesity due to its key regulating effects in insulin signaling and leptin receptor pathways. 30611982 2019
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE Since CCX140-B has a low affinity for mouse CCR2, transgenic human CCR2 knockin mice were generated and rendered diabetic with either a high-fat diet (diet-induced obesity) or by deletion of the leptin receptor gene (db/db). 23986513 2013
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE Congenital deficiency of the leptin receptor is a very rare cause of severe early-onset obesity. 21306929 2011
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE Leptin plays an important role in the regulation of body fat homeostasis, and potential associations of leptin receptor gene (LEPR) polymorphisms with obesity have been suggested. 16011872 2006
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE Lys656Asn polymorphism of LEPR gene is associated with obesity parameters, insulin resistance and glucose levels in patients with NAFLD. 22530350 2012
CUI: C0028754
Disease: Obesity
Obesity
0.700 GeneticVariation disease BEFREE LEPR rs1137101 GG genotype was related to reduced risk of obesity (odds ratio [OR] 0.26, 95% confidence interval [CI] 0.08-0.79; p = 0.018) and MetS (OR 0.36, 95% CI 0.15-0.88; p = 0.024), but it was not significant after Bonferroni correction for multiple tests as compared to the AA genotype (p > 0.01). 28975585 2018
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 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 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 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 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