Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Obesity
CUI: C0028754
Disease: Obesity
0.100 GeneticVariation BEFREE Taken together, these data suggest that the increased obesity risk linked to the N221D allele in humans may be due in part to PC1/3-induced loss of resilience to stressors rather than strictly to decreased enzymatic activity on peptide precursors. 31504391 2019
Obesity
CUI: C0028754
Disease: Obesity
0.100 GeneticVariation BEFREE Coimmunoprecipitation of PC1/3-N222D and human PC1/3 variants associated with obesity with the endoplasmic reticulum (ER) chaperone BiP was studied in cell lines. 26786350 2016
Obesity
CUI: C0028754
Disease: Obesity
0.100 GeneticVariation BEFREE Significant associations were found with binary obesity status for rs6232 (OR = 1.15, 95% CI 1.06-1.24, P = 6.08 × 10(-6)) and rs6234/rs6235 (OR = 1.07, 95% CI 1.04-1.10, P = 3.00 × 10(-7)). 25784503 2015
Obesity
CUI: C0028754
Disease: Obesity
0.100 GeneticVariation BEFREE In RSPlus1, heterozygotes for rs6232 had 1.5 times higher risk of obesity (OR: 1.46; 95% confidence interval: 1.04-2.03; P=0.03). 25031086 2015
Obesity
CUI: C0028754
Disease: Obesity
0.100 GeneticVariation BEFREE This meta-analysis confirmed the association of PCSK1 SNPs with obesity and provides the first evidence that the association between PCSK1 rs6232 and obe</span>sity is stronger for childhood obesity than for adult obesity. 25355447 2014
Obesity
CUI: C0028754
Disease: Obesity
0.100 GeneticVariation BEFREE These profound alterations in the cell biology of PC1/3-N222D are likely to contribute to the defective insulin biosynthetic events observed in the mutant mice and may be relevant to the dramatic contributions of polymorphisms in this gene to human obesity. 24828610 2014
Obesity
CUI: C0028754
Disease: Obesity
0.100 GeneticVariation BEFREE The effects of this novel variant on the biosynthesis, secretion, and catalytic activity were determined; the previously-described obesity risk SNPs N221D (rs6232), Q665E/S690T (rs6234/rs6235), and the Q665E and S690T SNPs (analyzed separately) were included for comparative purposes. 23383060 2013
Obesity
CUI: C0028754
Disease: Obesity
0.100 GeneticVariation BEFREE These results indicate that common PCSK1 variants (notably rs</span>6232 and rs6235) contribute modestly to obesity in multi-ethnic American population. 23451278 2013
Obesity
CUI: C0028754
Disease: Obesity
0.100 GeneticVariation BEFREE Although rs6232 is rare in the Mexican population, it should be considered as an important risk factor for extreme forms of obesity. 22737226 2012
Obesity
CUI: C0028754
Disease: Obesity
0.100 GeneticVariation BEFREE Common single nucleotide polymorphisms (SNPs) within this gene, rs6232 and rs6235, are associated with obesity. 20534142 2010
Obesity
CUI: C0028754
Disease: Obesity
0.100 GeneticVariation BEFREE In conclusion, our data suggest that the PCSK1 rs6</span>232 and rs6235 SNPs are not major contributors to common obe</span>sity in the general population. 19528091 2009
Obesity
CUI: C0028754
Disease: Obesity
0.100 GeneticVariation BEFREE The nonsynonymous variants rs6232, encoding N221D, and rs6234-rs6235, encoding the Q665E-S690T pair, were consistently associated with obesity in adults and children (P = 7.27 x 10(-8) and P = 2.31 x 10(-12), respectively). 18604207 2008
Obesity
CUI: C0028754
Disease: Obesity
0.100 GeneticVariation BEFREE Increased energy intake and a more efficient metabolism contribute to the obesity in Pc1(N222D/N222D) mice. 16644867 2006
Pediatric Obesity
CUI: C2362324
Disease: Pediatric Obesity
0.020 GeneticVariation BEFREE In addition to confirming rs6232 and rs6234 in <i>PCSK1</i> as polygenic risk variants for childhood obesity, we describe an association of rs725522 with insulin metabolism. 28271036 2017
Pediatric Obesity
CUI: C2362324
Disease: Pediatric Obesity
0.020 GeneticVariation BEFREE This meta-analysis confirmed the association of PCSK1 SNPs with obesity and provides the first evidence that the association between PCSK1 rs6232 and obesity is stronger for childhood obesity than for adult obesity. 25355447 2014