The apo E gene represents a major determinant in lipoprotein metabolism. The 2, 3, 4 alleles which originate 6 different aplotypes are differently related to total cholesterol (TC), triglycerides (Tg) and apo B levels. Furthermore relationship between the familial combined hyperlipemia (FCHL), a complex inherited disorder of lipoproteins carrying apo B, and apo E aplotypes is poorly questioned. Aim of the study is to examine in Italian FCHL kindreds the correlations between common aplotypes E2/E3,E3/E3 E3/E4 and lipoprotein profiles. Methods: 35 affected children , 63 adults patients and 6 health sibs from 27 FCHL kindreds were submitted to biochemical analysis and DNA collection. The diagnosis was based on TC and/or Tg exceeding the 90° centile, on 1° related affected parents and kindreds phenotype variability. The apo E isoforms were detected by DNA RFLP after cleavage with CFO1 enzyme. Statistical evaluation was based on ANOVA one-way method. Results: Alleles frequencies in FCHL and controls kindreds were not significant. TC resulted 140, 224, 272 mg%, LDL-C 70, 149, 196 mg%, apoB 74, 109, 141 mg% and Tg 182, 89, 142 mg% in E2/E3, E3/E3 and E3/E4 respectively. A statistically significant result (p<0,001 and p<0,05) was obtained on TC , LDL-C and apoB respectively on adults and children. Conclusions: TC, LDL.C and apoB higher levels were observed in subjects carrying in order the E3/E4, E3/E3 and E2/E3 aplotypes. In contrast the higher Tg levels are obseved in the E2/E3 aplotype. These results confirm a correlation beetween apoE alleles and the biochemical expression of FCHL phenotype . Moreover the atherogenic phenotype related to 4 allele is here evidenced since pediatric age, while the involvment of 2 allele is still doubtful.
Impact of apo E genotype on familial combined hyperlipemia (FCHL) expression
GUARDAMAGNA, Ornella;BONDONE, claudia;SACCHETTI, Carla;BO, Mario;
2001-01-01
Abstract
The apo E gene represents a major determinant in lipoprotein metabolism. The 2, 3, 4 alleles which originate 6 different aplotypes are differently related to total cholesterol (TC), triglycerides (Tg) and apo B levels. Furthermore relationship between the familial combined hyperlipemia (FCHL), a complex inherited disorder of lipoproteins carrying apo B, and apo E aplotypes is poorly questioned. Aim of the study is to examine in Italian FCHL kindreds the correlations between common aplotypes E2/E3,E3/E3 E3/E4 and lipoprotein profiles. Methods: 35 affected children , 63 adults patients and 6 health sibs from 27 FCHL kindreds were submitted to biochemical analysis and DNA collection. The diagnosis was based on TC and/or Tg exceeding the 90° centile, on 1° related affected parents and kindreds phenotype variability. The apo E isoforms were detected by DNA RFLP after cleavage with CFO1 enzyme. Statistical evaluation was based on ANOVA one-way method. Results: Alleles frequencies in FCHL and controls kindreds were not significant. TC resulted 140, 224, 272 mg%, LDL-C 70, 149, 196 mg%, apoB 74, 109, 141 mg% and Tg 182, 89, 142 mg% in E2/E3, E3/E3 and E3/E4 respectively. A statistically significant result (p<0,001 and p<0,05) was obtained on TC , LDL-C and apoB respectively on adults and children. Conclusions: TC, LDL.C and apoB higher levels were observed in subjects carrying in order the E3/E4, E3/E3 and E2/E3 aplotypes. In contrast the higher Tg levels are obseved in the E2/E3 aplotype. These results confirm a correlation beetween apoE alleles and the biochemical expression of FCHL phenotype . Moreover the atherogenic phenotype related to 4 allele is here evidenced since pediatric age, while the involvment of 2 allele is still doubtful.
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