Research indicates that genetic variations are key for understanding the genetic basis of complex traits and diseases. Variants can influence phenotypes, the susceptibility of an individual to disease, drug response and human genome evolution. Many SNPs have been associated with common disorders such as diabetes, obesity, and cardiovascular diseases. Further research into identifying the risk factors and understanding the biology of risk variants would enable a more complete view of these conditions and lead to improved disease treatment and prevention.
Research shows that the MC4R gene is part of the melanocortinergic pathway that controls energy homeostasis and body weight and that certain mutations located within the gene can result in either a reduced function or a total loss of function. Research also shows that there is a negative association of the V103I allele with obesity.
Melanocortin 4 Receptor