Genetic Variant Responsible for Heart Ailment: Study

Genetic Variant Responsible for Heart Ailment: StudyA publishing in the New England Journal of Medicine has shed light on genetic variations.

Senior author Wendy Post, from the Johns Hopkins University School of Medicine said that this discovery is very significant in comprehending the biology of the development of aortic stenosis.

She said that the new discovery could lead to development of new medications to cure the disease or reduce the progression. The gene that has been debatable is the one that produces a type of cholesterol particle. The particle has been defined as lipoprotein (a), which circulates in the blood.

The lead author Catherine Campbell, of Kaiser Permanente, said that the increase in the level of this particle was earlier connected to aortic valve disease. One thing that was not understood was that whether it was marker or a causal factor.

According to her, their study has discovered that relationship is causal. To come to conclusions, 2.5 million gene variants were studied of approximately 6,900 people of white European heritage. Then, they eventually inferred that this variant was responsible for aortic calcium deposits.

Scientists have confirmed their study with three other groups. There are more than 2,000 people of Hispanic origin, about 2,500 African-Americans, and more than 700 Germans.

Using data from nearly 40,000 people in Sweden and Denmark, the data was confirmed.