PLIN1, perilipin 1, 5346

N. diseases: 85; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028754
Disease: Obesity
Obesity 		0.400 GeneticVariation disease BEFREE Our aim was to examine the association between common variants at the PLIN1 gene and central obesity in unrelated Chinese adults. 25529448 2015
CUI: C0028754
Disease: Obesity
Obesity 		0.400 GeneticVariation disease BEFREE Our data support the hypothesis that the PLIN locus may be a significant genetic determinant for obesity risk in whites and that women are more sensitive to the genetic effects of perilipin than men. 15601970 2004
CUI: C0028754
Disease: Obesity
Obesity 		0.400 GeneticVariation disease BEFREE Since obesity plays an important role in the etiology of PCOS, we sought to determine if variants in the perilipin gene (PLIN), a gene previously implicated in the development of obesity, were also associated with PCOS. 19782423 2009
CUI: C0028754
Disease: Obesity
Obesity 		0.400 GeneticVariation disease BEFREE Only in women, PLIN1 and PLIN4 variant alleles (6209C and 11482A) were associated with a lower obesity risk [Odds ratio (OR) = 0.58, 95% confidence interval (CI): 0.38-0.93 and OR = 0.56, 95% CI: 0.36-0.89, respectively]. 15355432 2004
CUI: C0028754
Disease: Obesity
Obesity 		0.400 GeneticVariation disease BEFREE The variations in perilipin gene (PLIN) were previously associated with obesity and insulin sensitivity. 18356850 2008
CUI: C0028754
Disease: Obesity
Obesity 		0.400 GeneticVariation disease BEFREE Our results show: (1) A strong association between rs9939609 SNP of the FTO gene variant and obesity in Spanish morbidly obese adult patients; (2) positive correlations between FTO mRNA and leptin, perilipin, and visfatin gene expressions in subcutaneous adipose tissue; (3) FTO and perilipin gene expressions were positively correlated in visceral fat depot. 18855084 2009
CUI: C0028754
Disease: Obesity
Obesity 		0.400 GeneticVariation disease BEFREE Among them, adiponectin (ADIPOQ) and perilipin (PLIN) polymorphisms are major factors of obesity. 20495294 2010
CUI: C0028754
Disease: Obesity
Obesity 		0.400 GeneticVariation disease BEFREE The PLIN 6 polymorphism of the perilipin gene may influence the risk of the obesity during adolescence. 28274232 2017
CUI: C0028754
Disease: Obesity
Obesity 		0.400 GeneticVariation disease BEFREE We examined whether dietary macronutrients (e.g. carbohydrates and fats) modulated the associations of the common PLIN 11482G > A (rs894160) single nucleotide polymorphism with obesity. 18806092 2008
CUI: C0028754
Disease: Obesity
Obesity 		0.400 GeneticVariation disease BEFREE Polymorphisms in PLIN and hypertension combined with obesity and lipid profiles in Han Chinese. 15601966 2004
CUI: C0028754
Disease: Obesity
Obesity 		0.400 GeneticVariation disease BEFREE Intragenic linkage disequilibrium structure of the human perilipin gene (PLIN) and haplotype association with increased obesity risk in a multiethnic Asian population. 15770500 2005
CUI: C0028754
Disease: Obesity
Obesity 		0.400 GeneticVariation disease BEFREE Since the haplotype of the minor alleles PLIN1-4, PLIN5-7 and PLIN6, was related to body-weight regulation at a lower level of body-weight in the men as well in the women we conclude that the PLIN1-4, 6, and 5-7 locus appears as a genetic influencer of obesity risk in humans. 19385027 2009
CUI: C0028754
Disease: Obesity
Obesity 		0.400 GeneticVariation disease BEFREE Association between PLIN polymorphisms and obesity status was estimated by ordinal logistic regression. 20163070 2009
CUI: C0028754
Disease: Obesity
Obesity 		0.400 GeneticVariation disease BEFREE Genetic polymorphisms at the perilipin (PLIN) locus have been investigated for their potential utility as markers for obesity and metabolic syndrome (MS). 18812483 2008
CUI: C0028754
Disease: Obesity
Obesity 		0.400 GeneticVariation disease BEFREE Update on perilipin polymorphisms and obesity. 23035807 2012
CUI: C0028754
Disease: Obesity
Obesity 		0.400 GeneticVariation disease BEFREE The objective of the study was to examine the association of several polymorphisms at the perilipin (PLIN) locus with obesity and weight reduction in response to a low-energy diet in obese patients. 15985482 2005
CUI: C0028754
Disease: Obesity
Obesity 		0.400 GeneticVariation disease BEFREE In recent research, it has been shown that rs2289487 within the PLIN1 gene has different variants that have been associated with obesity, type 2 diabetes, and other diseases. 27611592 2016
CUI: C0028754
Disease: Obesity
Obesity 		0.400 GeneticVariation disease BEFREE Possible role for ENPP1 polymorphism in obesity but not for INSIG2 and PLIN variants. 19399648 2009
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.370 GeneticVariation disease BEFREE Herein, we present a rare case of proteinuria associated with type 4 FPLD, which is characterized by a heterozygous mutation in PLIN1 and has not been reported with renal involvement until now. 29747582 2018
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.370 GeneticVariation disease BEFREE Our study suggests that heterozygous variants that are predicted to result in PLIN1 haploinsufficiency are not a cause of familial partial lipodystrophy and should not be reported as disease-causing variants by diagnostic genetic testing laboratories. 30020498 2018
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.370 GeneticVariation disease BEFREE Loss-of-function mutations in the PLIN1 gene were recently reported in patients with a novel subtype of familial partial lipodystrophy, designated as FPLD4. 25114292 2015
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		0.370 GeneticVariation disease BEFREE We recently identified the first human loss-of-function mutations in PLIN1 in patients with a novel form of familial partial lipodystrophy, severe insulin resistance, diabetes, dyslipidaemia and fatty liver. 23392103 2013
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.140 GeneticVariation disease BEFREE We performed histological and molecular studies for patients referred to our French National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity for lipodystrophy and/or insulin resistance and carrying PLIN1 frameshift variants. 31504636 2019
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.130 GeneticVariation disease BEFREE We recently identified the first human loss-of-function mutations in PLIN1 in patients with a novel form of familial partial lipodystrophy, severe insulin resistance, diabetes, dyslipidaemia and fatty liver. 23392103 2013
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.130 GeneticVariation disease BEFREE We recently identified the first human loss-of-function mutations in PLIN1 in patients with a novel form of familial partial lipodystrophy, severe insulin resistance, diabetes, dyslipidaemia and fatty liver. 23392103 2013