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 CausalMutation disease CLINVAR
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 Biomarker disease GENOMICS_ENGLAND PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy. 30020498 2018
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4
0.600 GermlineCausalMutation disease ORPHANET Perilipin deficiency and autosomal dominant partial lipodystrophy. 21345103 2011
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 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 Biomarker disease CTD_human Thus, perilipin was elevated in obese subjects, perhaps as a compensatory mechanism to limit basal lipolysis. 15001633 2004
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 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 Biomarker disease BEFREE Perilipin protein content and lipolysis rates were measured in human subcutaneous fat cells of non-obese (n=10) and obese (n=117) women. 12802495 2003
CUI: C0028754
Disease: Obesity
Obesity
0.400 Biomarker disease BEFREE Thus, perilipin was elevated in obese subjects, perhaps as a compensatory mechanism to limit basal lipolysis. 15001633 2004
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 Biomarker disease BEFREE These findings support an important role for PLIN as a candidate gene for obesity risk in humans as well as a modulator of dietary response to therapies aimed to reduce body weight and decrease metabolic syndrome risk. 17353663 2007
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 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 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 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 AlteredExpression disease BEFREE Depot-specific differences in perilipin mRNA but not protein expression in obesity. 15078502 2004
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