A study focusing on candidate genes associated with premature cardiovascular disease discovered that missense variations in the thrombospondin 1 and 4 genes were associated with premature coronary artery disease, while a mutation in the non-coding region of a thrombospondin 2 gene imparts protection from developing heart disease.
Recently, polymorphisms in thrombospondin (THBS) genes coding for THBS-1 (N700S), THBS-2 (T>G substitution in 3'-untranslated region), and THBS-4 (A387P) genes were proposed to modulate the risk of premature coronary artery disease (CAD) or myocardial infarction (MI).