A common deletion polymorphism in the apolipoprotein A4 gene and its significance in lipid metabolism.

摘要: Apolipoprotein A-IV (apoA-IV, protein; APOA4, gene) is a major constituent of high-density lipoprotein (HDL) and triglyceride-rich particles, but its precise function in lipid metabolism still uncertain. We have determined APOA4 genetic polymorphism 285 randomly selected Melanesians from the Solomon Islands evaluated significance metabolism. By using isoelectric focusing immunoblotting techniques, variant pattern, indistinguishable APOA4*2 allele uniquely found white populations at frequency about 8%, was detected relatively high (19%) Melanesian sample. Polymerase chain reaction (PCR) amplification DNA sequencing 3' end gene revealed that mutation distinct known it involves four-amino acid deletion evolutionarily conserved carboxyl-terminal region apoA-IV protein, which consists four repeats amino acids each. After adjustment for concomitant variables, we investigated impact on plasma levels cholesterol, triglycerides, apoA-I, apoA-II, apoE. A significant (P = .02) gene-dosage effect observed apoA-I apoA-II: these were lowest individuals homozygous (D), intermediate heterozygotes (ND), highest normal (N). The average APOA4*D to lower apoA-II by 8 mg/dL 2 mg/dL, respectively, accounted 3% phenotypic variance both cases.(ABSTRACT TRUNCATED AT 250 WORDS)