|
Obesity
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene.
|
9207799 |
1997 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
PCSK1 rs6232 is associated with childhood and adult class III obesity in the Mexican population.
|
22737226 |
2012 |
|
Obesity
|
0.700 |
Biomarker
|
disease |
BEFREE |
Proprotein convertase 1/3 (PC1/3) deficiency is a very rare disease characterized by severe intractable diarrhea in the first years of life, followed by obesity and several hormonal deficiencies later.
|
28588004 |
2017 |
|
Obesity
|
0.700 |
Biomarker
|
disease |
BEFREE |
A better understanding of these molecular and cellular pathologies may illuminate possible treatments for the complex endocrinopathy of PCSK1 deficiency, including obesity.
|
27288825 |
2016 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A total of 1,001 white individuals with extreme obesity (BMI >35 kg/m(2)) who underwent a preoperative diet/behavioral weight loss intervention and Roux-en-Y gastric bypass surgery were genotyped for single-nucleotide polymorphisms (SNPs) in or near the fat mass and obesity-associated (FTO), insulin induced gene 2 (INSIG2), melanocortin 4 receptor (MC4R), and proprotein convertase subtilisin/kexin type 1 (PCSK1) obesity genes.
|
21311511 |
2011 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A total of 1276 bariatric patients were genotyped for the INSIG-2, FTO, MC4R, and PCSK-1 obesity single nucleotide polymorphisms.
|
22695173 |
2014 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Amerindians show no association of PC-1 gene Gln121 allele and obesity: a thrifty gene population genetics.
|
22327785 |
2012 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Association of obesity risk SNPs in PCSK1 with insulin sensitivity and proinsulin conversion.
|
20534142 |
2010 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Common nonsynonymous variants in PCSK1 confer risk of obesity.
|
18604207 |
2008 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Common single nucleotide polymorphisms (SNPs) in proprotein convertase subtilisin/kexin type 1 with modest effects on PC1/3 in vitro have been associated with obesity in five genome-wide association studies and with diabetes in one genome-wide association study.
|
23383060 |
2013 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Common variants in PCSK1 also have been associated with obesity in heterozygotes in several population-based studies.
|
23562752 |
2013 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Congenital inactivation of PCSK1 leads to obesity in human but not in mice.
|
26786350 |
2016 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, PCSK1 rs6235 risk allele was related to Adv36 seropositivity (chi(2)=6.85, p=0.033) in overweight/obese subgroup.
|
26680480 |
2015 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, the contribution of two common nonsynonymous variants in PCSK1 to polygenic obesity risk has recently been established.
|
21805247 |
2011 |
|
Obesity
|
0.700 |
Biomarker
|
disease |
BEFREE |
Furthermore, we replicated the association of PCSK1 with BMI and obesity.
|
25031086 |
2015 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genes currently recognized to be involved include KAL-1 (associated with X-linked Kallmann Syndrome), gonadotropin-releasing hormone (GnRH) receptor, gonadotropins, pituitary transcription factors (HESX1, LHX3, and PROP-1), orphan nuclear receptors (DAX-1, associated with X-linked adrenal hypoplasia congenital, and SF-1), and three genes also associated with obesity (leptin, leptin receptor, and prohormone convertase 1 [ PC1]).
|
12536356 |
2002 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
HH occurs in DAX1 mutations when associated with adrenal insufficiency (adrenal hypoplasia congenita), and is also linked with obesity in patients with mutations of leptin and its receptor, as well as mutations in prohormone convertase 1.
|
17191030 |
2007 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Humans who are homozygous or compound heterozygous for loss-of-function mutations in PCSK1 exhibit a variable and pleiotropic syndrome consisting of some or all of the following: obesity, malabsorptive diarrhea, hypogonadotropic hypogonadism, altered thyroid and adrenal function, and impaired regulation of plasma glucose levels in association with elevated circulating proinsulin-to-insulin ratio.
|
27187081 |
2016 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.
|
17595246 |
2007 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, our data suggest that the PCSK1 rs6232 and rs6235 SNPs are not major contributors to common obesity in the general population.
|
19528091 |
2009 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In summary, we demonstrate evidence that common gene variation in PCSK1 contributes to BMI variation and susceptibility to common obesity in the largest known meta-analysis published to date in genetic epidemiology.
|
25784503 |
2015 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this study, we found modest evidence for association of the PCSK1 rs6234 with BMI and overweight in men only but not in women, which suggested that PCSK1 rs6234 might not be an important contributor to obesity in Chinese Hans.
|
20498726 |
2010 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the PCSK1 gene encoding prohormone convertase 1/3 (PC1/3) are strongly associated with obesity in humans.
|
24828610 |
2014 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
No difference was found in the association with different obesity grades, and no association of PCSK1 rs6234-rs6235 with obesity was identified in Asian populations.
|
25355447 |
2014 |