LEP, leptin, 3952

N. diseases: 931; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease BEFREE We have thus been able to confirm a tight relationship between serum leptin and body mass but have found no evidence for genetic linkage of the ob gene markers to morbid obesity in a population considered to represent a genetic isolate and to be an ideal model for studies of complex disorders. 9150718 1997
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Therapeutic disease CTD_human A leptin missense mutation associated with hypogonadism and morbid obesity. 9500540 1998
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease BEFREE The massive obesity caused in rodents by the disruption of the leptin-receptor signal through genetic defects at the level of either leptin (OB) or leptin receptor (OB-R) has raised the question of the relevance of these genes to morbid obesity in humans. 9545018 1998
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE In rodents, homozygous mutations in genes encoding leptin or the leptin receptor cause early-onset morbid obesity, hyperphagia and reduced energy expenditure. 9537324 1998
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease CTD_human A leptin missense mutation associated with hypogonadism and morbid obesity. 9500540 1998
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE We have previously demonstrated that genetically based leptin deficiency due to a missense leptin gene mutation in a highly consanguineous extended Turkish pedigree is associated with morbid obesity and hypogonadism. 10523015 1999
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE However, the leptin 25CAG allele may be linked to morbid obesity in this population. 11140377 2000
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 AlteredExpression disease BEFREE In order to examine the involvement of leptin in the ossification of spinal ligaments (OSL), the present study examined (i) serum levels of leptin and insulin in OSL patients and controls, (ii) serum leptin levels in children of OSL females with severe obesity, (iii) the expression of leptin receptor mRNA in human spinal ligaments, and (iv) effects of leptin on cultured human ligament cells. 10673363 2000
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 AlteredExpression disease 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
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease BEFREE Indeed, mutations in the gene's encoding leptin and its cognate receptor cause severe obesity in humans. 12481551 2002
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease 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
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease CTD_human Phenotypic effects of leptin replacement on morbid obesity, diabetes mellitus, hypogonadism, and behavior in leptin-deficient adults. 15070752 2004
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease 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
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Therapeutic disease CTD_human Phenotypic effects of leptin replacement on morbid obesity, diabetes mellitus, hypogonadism, and behavior in leptin-deficient adults. 15070752 2004
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease 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
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE Rare mutations in the leptin (LEP) gene cause severe obesity. 15937081 2005
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease 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
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease 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
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease BEFREE Leptin replacement rescues the phenotype of morbid obesity and hypogonadism in leptin-deficient adults. 18854428 2008
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease 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
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE Homozygous Leptin(145E/145E) mutant mice exhibited morbid obesity, accompanied by adipose hypertrophy, energy imbalance, and liver steatosis. 21151569 2010
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease 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
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease 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
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease 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
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease 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