Role of genetic variation at the Apo AI-CIII-AIV gene cluster in determining plasma Apo AI levels in boys and girls
✍ Scribed by Chun-Fang Xu; Francesco Angelico; Maria Del Ben; Steve Humphries
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 702 KB
- Volume
- 10
- Category
- Article
- ISSN
- 0741-0395
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✦ Synopsis
We have investigated the effect of the GIA substitution in the promoter region of the apolipoprotein (apo) A1 gene ( -75 bp) on plasma lipid, lipoprotein and apolipoprotein levels in a sample of 204 children from central Italy. The subjects included 11 1 boys and 93 girls, aged 8-1 1 years old. The frequency of the A allele was 0.19 in the total sample, and 0.21 and 0.17 in boys and girls, respectively. Using analysis of variance, we found the G/A substitution was significantly associated with plasma levels of total cholesterol, LDL cholesterol, apo B, and apo A1 in boys, accounting for 7.0, 4.2, 5.3, and 4.3% of the sample variance, respectively. Individuals with an A allele had higher mean levels of these lipid traits than individuals homozygous for the G allele. A dietary intervention study had been carried out in a subset of these children, and the effect of the G/A substitution on plasma apo A1 levels remained when boys changed to a low fat low cholesterol diet. However, no significant association was observed in girls between any of the lipid traits and the G/A genotypes. We have previously reported in this sample of children that the two polymorphism detected with restriction enzyme PvuII, with variable sites in the first intron of the apo CIII gene (Pvu II-CIII) and the apo CIII-AIV intergenic region (Pvu II-AIV), were associated with significant differences on plasma apo A1 levels, We found that the association reached statistical significance in boys only in this study. Taking these three polymorphisms together, the effects on plasma apo A1 levels were additive in boys, accounting for 20.0% of the sample variance. Boys having the genotype GG/V-V+ of the G/A substitution and the PvuII-AIV RFLP had mean apo A1 levels 36 mg/dl lower than boys with the genotype GA + AA/V ~ V -. In girls, however, there was evidence of significant interaction of