T-1131→ C polymorphism within the apolipoprotein AV gene in hypertriglyceridemic individuals

A Hořı́nek, M Vráblık, R Češka… - …, 2003 - atherosclerosis-journal.com
Cardiovascular disease (CVD) is the most common cause of death in industrialized
countries. Elevated plasma triglycerides (TGs) have been shown to be an independent risk
factor for CVD [1]. Recently, a new gene designated APOAV has been identified in the
APOAI/APOCIII/APOAIV gene cluster by comparative sequencing by Pennachio et al.[2]. The
human APOAV gene consists of four exons and codes for a 369-amino acid protein, which is
only expressed in the liver. Development of strains of transgenic and knockout mice …

Ser19→ Trp polymorphism within the apolipoprotein AV gene in hypertriglyceridaemic people

M Vrablik, A Hořínek, R Češka, V Adamkova… - Journal of Medical …, 2003 - jmg.bmj.com
RESULTS AND DISCUSSION Heteroduplex analysis of the LPL gene did not detect any
mutation in the 83 hypertriglyceridaemic patients; neither in the population nor in patient
groups was APOAV polymorphism associated with diabetes. The pattern of distribution of
APOAV genotypes is summarised in table 1. The frequency of carriers of the Ser/Trp and
Trp/Trp genotypes was much higher (p< 0.0001) in patients with extreme TG concentrations
compared to the population sample. Although not all hypertriglyceridaemic patients have the …