Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker BEFREE SH2B1 is well-known as an adaptor protein, and deletion of SH2B1 results in severe obesity and both leptin and insulin resistance. 31739166

2020

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation BEFREE Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity. 31067764

2019

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker BEFREE Circulating miRNAs showed significant association with plasma levels of adipokines; adiponectin, leptin, and L/A ratios in adolescents with severe obesity. 30309709

2019

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 AlteredExpression BEFREE Leptin levels were higher in patients with severe obesity (p < 0.001). 31210052

2019

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker BEFREE University hospital, United States METHODS: Spexin, body mass index (BMI), insulin, glucose, total and high molecular weight adiponectin, leptin, and high sensitivity C- reactive protein were measured longitudinally (baseline, 6 mo, and 12 mo) after RYGB surgery in girls with severe obesity (n = 12; age = 16.7 ± 1.5 years; BMI = 51.6 ± 2.9 kg/m<sup>2</sup>). 30131311

2018

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation BEFREE Early-onset severe obesity due to complete deletion of the leptin gene in a boy. 29040067

2017

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation BEFREE Leptin receptors belong to glycoprotein 130 (gp130) family of cytokine receptors and exist in six isoforms (LEPR a-f), and all the isoforms are encoded by LEPR gene; out of these isoforms, the LEPR-b receptor is the 'longest form,' and in most of the cases, mutations in this isoform cause severe obesity. 27313173

2016

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker BEFREE Leptin therapy reverses morbid obesity related to congenital leptin deficiency and appears to possibly treat lipodystrophy, a finding which has led to the approval of leptin for the treatment of lipodystrophy in the USA and Japan. 26313897

2015

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation BEFREE Among 73 children with severe obesity (BMI SDS > 3.0), we identified 22 probands and 5 relatives, carrying 10 different loss-of-function homozygous mutations in LEP, leptin receptor (LEPR), and MC4R genes, including 4 novel variants. 26179253

2015

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker BEFREE In this issue, we have gathered together a group of essays by some of the world leaders in leptin research, including an overview by Dr Jeffrey Friedman who, in his seminal article in December 1994, described the adipocyte-derived hormone, the lack of which was responsible for the severe obesity in ob/ob mice and suggested that it should be named leptin. 25143632

2014

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation BEFREE We speculated that the mutation H118L in LEP might be associated with severe obesity in Chinese subjects. 24707501

2014

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker BEFREE The discovery of the adipocyte hormone leptin and the demonstration that severe obesity in ob/ob and db/db mice results from mutation of genes encoding leptin and its receptor, respectively, ushered in a new era of obesity research. 23722910

2013

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation BEFREE Congenital leptin deficiency, caused by a very rare mutation in the gene encoding leptin, leads to severe obesity, hyperphagia and impaired satiety. 23799059

2013

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation BEFREE We have assessed the incidence of LEP and MC4R mutations and associated hormonal profiles, in a cohort of randomly selected Pakistani children with early onset of severe obesity. 22463805

2012

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation BEFREE Homozygous Leptin(145E/145E) mutant mice exhibited morbid obesity, accompanied by adipose hypertrophy, energy imbalance, and liver steatosis. 21151569

2010

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker BEFREE At the time of follow-up, AMS children exhibited 3-fold lower prevalence of severe obesity (11 vs. 35%, P = 0.004), greater insulin sensitivity (homeostasis model assessment of insulin resistance index 3.4 +/- 0.3 vs. 4.8 +/- 0.5, P = 0.02), improved lipid profile (cholesterol/high-density lipoprotein cholesterol 2.96 +/- 0.11 vs 3.40 +/- 0.18, P = 0.03; high-density lipoprotein cholesterol 1.50 +/- 0.05 vs. 1.35 +/- 0.05 mmol/liter, P = 0.04), lower C-reactive protein (0.88 +/- 0.17 vs. 2.00 +/- 0.34 microg/ml, P = 0.004), and leptin (11.5 +/- 1.5 vs.19.7 +/- 2.5 ng/ml, P = 0.005) and increased ghrelin (1.28 +/- 0.06 vs.1.03 +/- 0.06 ng/ml, P = 0.005) than BMS offspring (AMS vs. BMS, respectively, for all). 19820018

2009

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker BEFREE Leptin replacement rescues the phenotype of morbid obesity and hypogonadism in leptin-deficient adults. 18854428

2008

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker BEFREE Leptin is an adipocyte-secreted hormone, and deficiency of either leptin or its receptor has been shown to cause morbid obesity in animals and in humans. 17728393

2007

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker BEFREE We and others have identified several single gene defects that disrupt the molecules in the leptin-melanocortin pathway causing severe obesity in humans. 17122358

2006

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker BEFREE To investigate the physiological role of leptin in the control of meal size and the response to satiety signals, and to identify brain areas mediating this effect, we studied Koletsky (fa(k)/fa(k)) rats, which develop severe obesity due to the genetic absence of leptin receptors. 15711637

2005

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation BEFREE Rare mutations in the leptin (LEP) gene cause severe obesity. 15937081

2005

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker BEFREE We document here that leptin replacement therapy in leptin-deficient adults with established morbid obesity results in profound weight loss, increased physical activity, changes in endocrine function and metabolism, including resolution of type 2 diabetes mellitus and hypogonadism, and beneficial effects on ingestive and noningestive behavior. 15070752

2004

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker BEFREE The only situation in which obesity does not parallel leptin values is the rare case of morbid obesity due to leptin deficiency caused by missense mutation of the leptin gene. 12519870

2003

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 AlteredExpression BEFREE Our aim was to investigate the regulation of the gene expression of leptin in subcutaneous adipose tissue biopsies in morbid obesity before and after biliopancreatic diversion (BPD). 12033286

2002

Entrez Id: 3952
Gene Symbol: LEP
LEP
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker BEFREE Indeed, mutations in the gene's encoding leptin and its cognate receptor cause severe obesity in humans. 12481551

2002