|
rs878909905
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One was a novel nonsense mutation p.W174* detected in a severely obese 7-year-old boy.
|
26244670 |
2016 |
|
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 |
|
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 |
|
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 |
|
rs375095163
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We present the case report of a 2 year old boy with early onset extreme obesity (body mass index (BMI) 34.2 kg/m²; body mass index standard deviation score (BMI-SDS) 5.4) who is heterozygous for a non-conservative functionally relevant melanocortin MC(4)receptor mutation (Glu308Lys) and who also showed severe symptoms of attention deficit/hyperactivity disorder (ADHD).
|
21211528 |
2011 |
|
rs8087522
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No associations with obesity could be found for rs8087522 and rs1943226.
|
21303735 |
2011 |
|
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 |
|
rs61741819
|
|
|
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 |
|
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 |
|
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 |
|
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 |
|
rs368264587
|
|
|
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 |
|
rs752031670
|
|
|
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 |
|
rs2282556
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we report a novel homozygous missense mutation of MC4R (G98R) in a nondiabetic Japanese woman with severe early-onset obesity, which is located in its second transmembrane domain.
|
11756348 |
2002 |
|
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 |
|
rs52820871
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In the obesity group, 10 different variants were identified, whereas in the binge-eating patients, only two individuals with bulimia nervosa were found to carry the I251L polymorphism, which did not correlate with weight, BMI, or psychopathological features.
|
25419636 |
2015 |
|
rs52820871
|
|
|
0.040 |
GeneticVariation |
BEFREE |
A rare polymorphism (I251L, allelic frequency: 1/100) reported to protect against obesity was found in another obese patient.
|
23251400 |
2012 |
|
rs52820871
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Meta-analyses of previous published data with the current ones provided strong evidence of the protective effect of I251L toward obesity</span> (OR = 0.52, P = 3.58 10-5), together with a modest negative association between V103I and obesity (OR = 0.80, P = 0.002).
|
17519222 |
2007 |
|
rs52820871
|
|
|
0.040 |
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 |
|
rs2229616
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The influence of rs2229616 (MC4R) on BMI and obesity has been confirmed repeatedly and insight into the underlying mechanism provided.
|
24518831 |
2014 |
|
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 |
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 |
In conclusion, this study confirmed and extended the previous findings, suggesting the MC4R V103I polymorphism is negatively associated with human obesity.
|
19696756 |
2010 |
|
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 |
In humans, MC4R mutations that lead to an impaired receptor function are associated with obesity; in contrast, the most frequent polymorphism (Val103Ile, rs2229616; heterozygote frequency approximately 2%) was shown to be negatively associated with obesity.
|
18377640 |
2008 |