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
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4
0.600 Biomarker disease GENOMICS_ENGLAND PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy. 30020498 2018
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4
0.600 Biomarker disease GENOMICS_ENGLAND PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy. 30020498 2018
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4
0.600 Biomarker disease GENOMICS_ENGLAND Defective differentiation of adipose precursor cells from lipodystrophic mice lacking perilipin 1. 25695774 2015
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4
0.600 GermlineCausalMutation disease ORPHANET Perilipin deficiency and autosomal dominant partial lipodystrophy. 21345103 2011
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4
0.600 CausalMutation disease CLINVAR
CUI: C0028754
Disease: Obesity
Obesity
0.400 Biomarker disease BEFREE Obesity-associated inflammation triggers an autophagy-lysosomal response in adipocytes and causes degradation of perilipin 1. 30741926 2019
CUI: C0028754
Disease: Obesity
Obesity
0.400 Biomarker disease BEFREE Thus, the present study suggests that PCB-138-induced LD enlargement endows adipocytes with resistance to TNF-α-induced cell death and that Fsp27, perilipin, and survivin, at least in part, help adipocytes to sustain enlarged LDs, contributing to the induction of obesity. 29704545 2018
CUI: C0028754
Disease: Obesity
Obesity
0.400 Biomarker disease BEFREE The objective of this study was to evaluate the influence of UCP3, PLIN1 and PPARG2 genes on the substrates oxidation in women with grade III obesity after hypocaloric dietary intervention. 28651828 2018
CUI: C0028754
Disease: Obesity
Obesity
0.400 Biomarker disease BEFREE Epigenetic Regulation of PLIN 1 in Obese Women and its Relation to Lipolysis. 28860604 2017
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 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 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 AlteredExpression disease BEFREE Here, we aimed to investigate lipid droplet protein (CIDEC/FSP27 and perilipinA (PLIN1)) gene expression in human adipose tissue in association with obesity, insulin resistance and mitochondrial gene expression. 24126816 2014
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 Among them, adiponectin (ADIPOQ) and perilipin (PLIN) polymorphisms are major factors of obesity. 20495294 2010
CUI: C0028754
Disease: Obesity
Obesity
0.400 AlteredExpression disease BEFREE Perilipin overexpression in mice protects against diet-induced obesity. 19797618 2010
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 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 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 Possible role for ENPP1 polymorphism in obesity but not for INSIG2 and PLIN variants. 19399648 2009
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 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 Biomarker disease BEFREE Several perilipin (PLIN) polymorphic sites have been studied for their potential use as markers for obesity and the metabolic syndrome. 18326614 2008
CUI: C0028754
Disease: Obesity
Obesity
0.400 AlteredExpression disease BEFREE Some studies shown that lower level of perilipin protein was displayed in obese than lean subjects and polymorphisms in PLIN were associated with obesity in American and Spanish white women as well as in Korean . 18777456 2008