Apolipoprotein A5 (APOA5) is a small protein, expressed predominantly in the liver. In plasma, it is located on triglyceride rich lipoprotein particles (chylomicrones and VLDL) and on HDL. Plasma concentration of apolipoprotein A5 is very low, suggesting rather regulatory (activation of lipoprotein lipase, …) than structural function. APOA5 is an important determinant of plasma triglyceride concentration; this effect has been confirmed both on animal models, as well as on human studies. Minor alleles of three commonly analysed variants within this gene (rs662799, rs3135506, rs2075291) are associated with higher plasma TG values and increased risk of myocardial infarction, with some important interethnic differences observed. Further roles of APOA5; determination of BMI, diabetes and last but not least nutri- and pharmaco-genetic interactions are suggested, but without the definitive conclusions.

• Keywords
• Apolipoprotein A5, Cardiovascular disease, Polymorphism, Triglycerides,
• MeSH
• Apolipoprotein A-V blood   genetics   metabolism   MeSH
• Polymorphism, Single Nucleotide * MeSH
• Cardiovascular Diseases blood   epidemiology   genetics   MeSH
• Humans MeSH
• Triglycerides blood   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Review MeSH
• Names of Substances
• APOA5 protein, human MeSH Browser
• Apolipoprotein A-V MeSH
• Triglycerides MeSH

BACKGROUND: The importance of apolipoprotein A-V (APOAV) gene variants in the determination of plasma triglyceride levels in humans has been proven in several population studies. OBJECTIVES: To investigate whether APOAV gene variants are associated with the different plasma cholesterol fractions. METHODS: The influence of APOAV polymorphisms (T-1131>C, Ser19>Trp and Val153>Met) on plasma cholesterol fractions was evaluated in 1191 men and 1368 women representatively selected from the Czech population. Low-density lipoprotein cholesterol, non-high-density lipoprotein (non-HDL) cholesterol and HDL cholesterol levels were analyzed. RESULTS: The T-1131>C variation in the APOAV gene was found to affect plasma non-HDL cholesterol, showing significantly higher levels in C-1131 carriers than in T/T-1131 homozygotes. This association was observed in both men (4.61+/-1.09 mmol/L in C-1131 carriers versus 4.47+/-1.07 mmol/L in T/T-1131 homozygotes; P<0.01) and women (4.46+/-1.22 mmol/L in C-1131 carriers versus 4.24+/-1.17 mmol/L in T/T-1131 homozygotes; P<0.01). Interestingly, when low-density lipoprotein cholesterol (obtained by the Friedewald formula) or HDL cholesterol levels were analyzed, no significant association was detected. CONCLUSION: The APOAV gene variant T-1131>C may play a role not just in the genetic determination of triglyceride levels but may also influence plasma levels of non-HDL cholesterol.

• Keywords
• Apolipoprotein A-V, Non-HDL cholesterol, Polymorphism, Triglycerides,
• Publication type
• Journal Article MeSH