Molecular Genetic And Epidemiology Study On Familial Combined Hyperlipidemia In Chinese Population

Cardio and cerebro-vascular diseases (myocardial infarction, stroke) are the most common cause of death. Hyperlipidemia are the most important risk factor for coronary heart disease (CHD), which have held the attention of many medical scientists. Lipid metabolic disturbances are complex genetic illnesses and their genetic are mostly unclear except familial Hypercholesterolemia (FH). Familial combined hyperlipidemia (FCHL) was first described as a new genetic disorder in 1973 by Goldstein et al. and Rose et al.and as a dyslipidemic syndrome in families of survivors of premature myocardial infarction. About 10-20% of FCHL patients develop premature CHD( below the age of 60 yr ). FCHL is present in 0.5-2% of the population, in contrast, the prevalence of FH hyterozygotes is 1 in 500 and FH patients represent 3% of myocardial infarction survivors. Among survivors of ischemic stroke (after the age of 40 yr), FCHL was the most common familial lipid disorder. FCHL exhibit familial aggregation but fail to exhibit any simple Mendelian mode of inheritance. Pedigree studies have suggested that FCHL is inherited as an autosomal dominant disorder related to environmental, genetic factors and their constellation.There have been many recent substantial successes in identifying the genetic basis of human disease, at least those with conspicuous determinants. However, most such succecces have involved simple...