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 SH2B1 is well-known as an adaptor protein, and deletion of SH2B1 results in severe obesity and both leptin and insulin resistance. 31739166 2020
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity. 31067764 2019
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease BEFREE Circulating miRNAs showed significant association with plasma levels of adipokines; adiponectin, leptin, and L/A ratios in adolescents with severe obesity. 30309709 2019
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 AlteredExpression disease BEFREE Leptin levels were higher in patients with severe obesity (p < 0.001). 31210052 2019
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease 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
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE Early-onset severe obesity due to complete deletion of the leptin gene in a boy. 29040067 2017
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease 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
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 Biomarker disease 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
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease 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
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
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.400 GeneticVariation disease BEFREE We speculated that the mutation H118L in LEP might be associated with severe obesity in Chinese subjects. 24707501 2014
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 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 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 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 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 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 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 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 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 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