LEPR, leptin receptor, 3953

N. diseases: 416; N. variants: 57
Disease: Obesity ×
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 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 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 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 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 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
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 GeneticVariation disease BEFREE Hypertension in obesity and the leptin receptor gene locus. 10999797 2000
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 GeneticVariation disease BEFREE To determine whether combined HTR2CLEP genotype or HTR2C-LEPR genotype are associated with obesity in patients using atypical antipsychotic drugs, a cross-sectional study design was used. 21105285 2010
CUI: C0028754
Disease: Obesity
Obesity 		0.700 GeneticVariation disease BEFREE A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. 9537324 1998
CUI: C0028754
Disease: Obesity
Obesity 		0.700 GeneticVariation disease BEFREE The polymorphisms in leptin (LEP G-2548A) and leptin-receptor (LEPR Gln223Arg) seem to influence obesity and lipid metabolism among others. 26064921 2015
CUI: C0028754
Disease: Obesity
Obesity 		0.700 GeneticVariation disease BEFREE Seven common polymorphisms in LEP, GHRL, CART and LEPR were analysed for genotype and haplotype association with anthropometric obesity phenotype indicators in South African Black and mixed-ancestry adolescent school learners. 21921635 2011
CUI: C0028754
Disease: Obesity
Obesity 		0.700 GeneticVariation disease BEFREE These results suggest that a Lepr polymorphism is involved in the regulation of body mass and adiposity in obese Australian white women, which may have implications for the treatment of obesity in this population. 11743056 2001
CUI: C0028754
Disease: Obesity
Obesity 		0.700 GeneticVariation disease BEFREE Melanocortin-4 receptor gene (MC4R) variants are associated with obesity and binge eating disorder (BED), whereas the more prevalent proopiomelanocortin (POMC) and leptin receptor gene (LEPR) mutations are rarely associated with obesity or BED. 15585384 2004
CUI: C0028754
Disease: Obesity
Obesity 		0.700 GeneticVariation disease BEFREE Furthermore, defects in the ob gene and leptin receptor gene have been demonstrated to be the cause of obesity in several rodent models. 8982734 1996