|
rs1057517991
|
|
|
0.720 |
GeneticVariation |
BEFREE |
By screening patients with severe early onset obesity for mutations within the melanocortin 4 receptor (MC4R) gene, we have identified a missense mutation (C271R) that occurs homozygous in two siblings with obesity.
|
14504270 |
2003 |
|
rs1057517991
|
|
|
0.720 |
GeneticVariation |
BEFREE |
We conclude that in our sample, the MC4R (C271R) mutation causing obesity, is in association with ADHD.
|
18777518 |
2008 |
|
rs11872992
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, we could also detect an association between rs11872992 and complex obesity (odds ratio=0.74, 95% CI 0.57-0.98, P=0.03).
|
21303735 |
2011 |
|
rs121913557
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We conclude that there is a concordance between the polymorphisms (Val103Ile, Val50Met, Ser58Cys) that were first studied in the Turkish population with obesity.
|
19184404 |
2009 |
|
rs121913558
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We conclude that there is a concordance between the polymorphisms (Val103Ile, Val50Met, Ser58Cys) that were first studied in the Turkish population with obesity.
|
19184404 |
2009 |
|
rs121913559
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We investigated whether MC4R variants identified from obese patients with binge eating disorder (T11A, F51L, T112M, and M200V) and variants identified in nonobese (I102T, F202L, and N240S) or obese (I102S, A154D, and S295P) subjects cause loss-of-function and what are the defects.
|
16030156 |
2005 |
|
rs121913566
|
|
|
0.710 |
GeneticVariation |
BEFREE |
In transient transfection assays, the N62S mutant receptor showed a responsiveness to alphaMSH that was intermediate between the wild-type receptor and mutant receptors carrying nonsense and missense mutations associated with dominantly inherited obesity.
|
10903343 |
2000 |
|
rs1267063448
|
|
|
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 |
|
rs13447323
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The correlation between the four variants (c.-24G>A, p.Thr101Ile, p.Ala259Asp and p.Ser30Phe) and the obesity phenotype, therefore, allows the conclusion that all of the four mutations cause a monogenic form of obesity.
|
30981838 |
2019 |
|
rs13447329
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated whether MC4R variants identified from obese patients with binge eating disorder (T11A, F51L, T112M, and M200V) and variants identified in nonobese (I102T, F202L, and N240S) or obese (I102S, A154D, and S295P) subjects cause loss-of-function and what are the defects.
|
16030156 |
2005 |
|
rs13447331
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Two different previously described heterozygous loss of function MC4R variants (i.e. p.Ser19Alafs*34, p.Ser127Leu) were identified in two obese probands, and one obese (p.Ser19Alafs*34), and one lean (p.Ser127Leu) adult family relatives.
|
26047380 |
2015 |
|
rs1380965800
|
|
|
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 |
|
rs138281308
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated whether MC4R variants identified from obese patients with binge eating disorder (T11A, F51L, T112M, and M200V) and variants identified in nonobese (I102T, F202L, and N240S) or obese (I102S, A154D, and S295P) subjects cause loss-of-function and what are the defects.
|
16030156 |
2005 |
|
rs151102515
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One of the novel variants, Ile137Thr, identified in an extremely obese proband (BMI 57), was found to be severely impaired in ligand binding and signaling, raising the possibility that it may contribute to development of obesity.
|
10078568 |
1999 |
|
rs187152753
|
|
|
0.810 |
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 |
|
rs202029579
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We also detected a novel mutation (L207V) in a severely obese 69-year-old female patient, although the mutation did not cosegregate with obesity in the corresponding pedigree and had no functional consequences on MC4R protein function.
|
22447289 |
2012 |
|
rs202228712
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated whether MC4R variants identified from obese patients with binge eating disorder (T11A, F51L, T112M, and M200V) and variants identified in nonobese (I102T, F202L, and N240S) or obese (I102S, A154D, and S295P) subjects cause loss-of-function and what are the defects.
|
16030156 |
2005 |
|
rs2229616
|
|
|
0.100 |
GeneticVariation |
BEFREE |
It further establishes that the association of the MC4R V103I with obesity and related phenotypes is genuine.
|
18239646 |
2008 |
|
rs2229616
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The most common Melanocortin-4 receptor (MC4R) missense variant Val103Ileu (rs2229616) is related to obesity.
|
20530052 |
2011 |
|
rs2229616
|
|
|
0.100 |
GeneticVariation |
BEFREE |
These results suggest that mutations including V103I in the MC4R gene are not a major cause of obesity or diabetes in Japanese.
|
11246450 |
1999 |
|
rs2229616
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This study confirms that the V103I polymorphism protects against human obesity at a population level.
|
17356525 |
2007 |
|
rs2229616
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Taken together, gain-of-function mutations I251L and V103I may be responsible for a preventive fraction of obesity of 2%, which mirrors the prevalence of monogenic obesity due to MC4R haploinsufficiency.
|
17519222 |
2007 |
|
rs2229616
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The objective of this study was to examine the Val103Ile polymorphism of MC4R in a population of Vojvodina and its association with obesity.
|
19283510 |
2010 |
|
rs2229616
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To investigate the effects of variation in the leptin [LEP (19A>G)] and melanocortin-4 receptor [MC4R (V103I)] genes on obesity-related traits in 13 405 African-American (AA) and white participants from the Atherosclerosis Risk in Communities (ARIC) Study.
|
17587397 |
2007 |
|
rs2229616
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In our study, we addressed the hypothesis that a G-->A substitution at codon 103 (Val-103Ile) of the MC4R gene influences abdominal obesity, insulin, glucose, and lipid metabolism as well as circulating hormones, including salivary cortisol.
|
11692184 |
2001 |