|
rs2229616
|
|
Obesity
|
|
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
|
|
Obesity
|
|
0.100 |
GeneticVariation
|
BEFREE |
The most common Melanocortin-4 receptor (MC4R) missense variant Val103Ileu (rs2229616) is related to obesity.
|
20530052 |
2011 |
|
rs2229616
|
|
Obesity
|
|
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
|
|
Obesity
|
|
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
|
|
Obesity
|
|
0.100 |
GeneticVariation
|
BEFREE |
It further establishes that the association of the MC4R V103I with obesity and related phenotypes is genuine.
|
18239646 |
2008 |
|
rs2229616
|
|
Obesity
|
|
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 |
|
rs2229616
|
|
Obesity
|
|
0.100 |
GeneticVariation
|
BEFREE |
This study confirms that the V103I polymorphism protects against human obesity at a population level.
|
17356525 |
2007 |
|
rs2229616
|
|
Obesity
|
|
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
|
|
Obesity
|
|
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
|
|
Obesity
|
|
0.100 |
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
|
|
Obesity
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our study confirms previous findings of a meta-analysis that the relatively infrequent G/A genotype of the V103I MC4R polymorphism is negatively associated with above average weight and obesity in population based original data of 7937 participants, and extends previous findings by showing for the first time a significantly lower BMI in individuals carrying the infrequent allele of this MC4R variant.
|
15805150 |
2005 |
|
rs2229616
|
|
Obesity
|
|
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 |
|
rs2229616
|
|
Obesity
|
|
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 |