|
rs28932472
|
|
|
0.030 |
GeneticVariation |
BEFREE |
R236G is a mutation which disrupts such a normal processing event resulting in an overall weight gain and early onset obesity.
|
26530524 |
2016 |
|
rs28932472
|
|
|
0.030 |
GeneticVariation |
BEFREE |
These results show that a) the R236G substitution of POMC gene, although not a major cause of obesity among Italian obese children and adolescents, is associated with early onset obesity, and that b) inherited alterations of the melanocortin signaling pathway, independently of the degree of obesity, do not preclude the possibility to lose weight in mutated individuals following a hypocaloric diet.
|
16682835 |
2006 |
|
rs28932472
|
|
|
0.030 |
GeneticVariation |
BEFREE |
These results suggest that the R236G mutation may confer an inherited susceptibility to obesity through the production of an aberrant fusion protein that has the capacity to interfere with central melanocortin signalling.
|
12165561 |
2002 |
|
rs767700712
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Highlighting the significance of this gap in knowledge, a single POMC cysteine-to-phenylalanine mutation at position 28 (POMC-C28F) is defective for ER processing and causes early onset obesity in a dominant-negative manner in humans through an unclear mechanism.
|
29457782 |
2018 |
|
rs1042571
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Analysis of MC4R rs17782313, POMC rs1042571, APOE-Hha1 and AGRP rs3412352 genetic variants with susceptibility to obesity risk in North Indians.
|
26226973 |
2016 |
|
rs201408477
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Furthermore, both mutations PCSK1-p.Asn180Ser and POMC-p.Phe144Leu, which had previously been reported to be associated with severe obesity, were also identified in this study, but did not co-segregate with obesity.
|
24890885 |
2015 |
|
rs1042571
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The common variant rs1042571 in the 3'UTR was significantly associated with BMI in EAs (Overweight: P(adj) = 0.005; Obese: P(adj) = 0.018; Overweight+Obese: P(adj) = 0.002) but not in AAs.
|
23028917 |
2012 |
|
rs201408477
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The novel heterozygous mutation Phe144Leu leading to the absence of melanocortin signaling was associated with early-onset obesity suggesting its pathogenic role.
|
18091355 |
2008 |
|
rs767700712
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Two novel heterozygous missense mutations in POMC (C28F and L37F) were identified in unrelated probands with early-onset obesity and their overweight or obese family members.
|
18697863 |
2008 |
|
rs1449052677
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Finally, we did not identify any rare mutations co-segregating with obesity in common obesity susceptibility genes, except for CADM2 and QPCTL, where we found two novel variants (p.Arg81His and p.Leu98Pro, respectively) in three obese individuals.
|
24890885 |
2015 |
|
rs1173597023
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Functional characterization of a new human melanocortin-4 receptor homozygous mutation (N72K) that is associated with early-onset obesity.
|
25163632 |
2014 |
|
rs776588032
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel heterozygous missense mutations in POMC (C28F and L37F) were identified in unrelated probands with early-onset obesity and their overweight or obese family members.
|
18697863 |
2008 |
|
rs772977552
|
|
|
0.010 |
GeneticVariation |
BEFREE |
(1) A novel MC4R non-synonymous mutation (S136F) was detected in a 2.3 year old girl with extreme obesity (BMI 33.2 kg/m(2), >99th centile); (2) a previously described non-synonymous mutation (V253I) was identified in an obese mother (BMI 28.1 kg/m(2)) who did not transmit this mutation to her extremely obese son; (3) two known polymorphisms (V103I and I251L) were also identified; and (4) one obese mother was carrier of a silent variation (c.594C>T; I198).
|
17286227 |
2007 |
|
rs149540566
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We screened the POMC gene in 538 patients with severe, early-onset obesity and identified five unrelated probands who were heterozygous for a rare missense variant in the region encoding beta-MSH, Tyr221Cys.
|
16459314 |
2006 |
|
rs750136455
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This proband inherited another missense mutation from her father (Glu-188-Gly). c) A missense mutation (G-7016-A; Asp-80-Asn) was observed in a single patient with AN who also harboured the 9bp insertion on a paternally derived haplotype. d) The allelic co-occurence of two silent mutations (C-6982-T and C-7285-T) was detected in two obese subjects. e) Two further silent mutations (C-3832-T; C-7111-G) were detected in an underweight and an obese subject, respectively.
|
9768693 |
1998 |
|
rs80326661
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This proband inherited another missense mutation from her father (Glu-188-Gly). c) A missense mutation (G-7016-A; Asp-80-Asn) was observed in a single patient with AN who also harboured the 9bp insertion on a paternally derived haplotype. d) The allelic co-occurence of two silent mutations (C-6982-T and C-7285-T) was detected in two obese subjects. e) Two further silent mutations (C-3832-T; C-7111-G) were detected in an underweight and an obese subject, respectively.
|
9768693 |
1998 |