High plasma triglyceride levels have been suggested to be independent risk factors of cardiovascular disease development and cardiovascular diseases are the most common cause of death in industrial countries around the world. It is known, that plasma levels of triglycerides are partially genetically determined. The importance of apoAV gene for determination of plasma triglyceride levels has been suggested by creations of transgenic and knock-out mice and confirmed on population studies. More then ten variants have been described in the human apoAV gene. Associations between four of them (T-1131-->C, Serl19-->Trp, Val153-->Met a Cys185-->Gly) and plasma triglyceride levels have been intensively analysed in different populations. Although with some differences between ethnic groups, alleles C-1131, Trp19 a Cys185 (so far detected just in Chinese population) are connected with elevated levels of plasma triglycerides. First analysis have detected that T-11131-->C a Ser19-->Trp apoAV variants could influence risk of myocardial infarction and size of LDL particles. Val153-->Met polymorphism is not associated with plasma levels of triglycerides, but females homozygous for Val153 have elevated levels of plasma HDL cholesterol.

Centrum experimentálního výzkumu chorob srdce a cév IKEM Praha