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 suggests that in individuals homozygous for the C282Y mutation, iron is over absorbed from the diet and hemochromatosis can result. Studies have also indicated that carriers of H63D and S65C mutations have smaller increases in iron absorption and may be at risk for milder forms of hemochromatosis, whereas individuals that are heterozygotes for both C282Y and H63D or S65C may have an increased risk of developing hemochromatosis.