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      Apolipoprotein E Polymorphism in IgA Nephropathy

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          Background/Aim: To clarify the role of the apolipoprotein E (Apo E) phenotype in IgA nephropathy, we investigated its relationship with histological damage and clinical factors. Methods: The subjects were 104 consecutive patients (41 men and 63 women) with IgA nephropathy. The Apo E phenotype was identified by plasma isoelectric focusing and immunoblotting, and the frequencies of Apo E alleles were calculated. Results: The frequencies of the phenotypes and the alleles were as follows: 2/2 = 0, 2/3 = 0.086, 3/3 = 0.654, 2/4 = 0.010, 4/3 = 0.211, 4/4 = 0.010, 3/5 = 0.029, Ε2 = 0.048, Ε3 = 0.817, Ε4 = 0.120, and others = 0.015. There were no significant differences between the IgA nephropathy patients and healthy individuals in the frequencies of Apo E phenotypes and the alleles. However, the Apo E2 phenotype was significantly more common among patients with severe histological damage than in those with mild damage. The serum triglyceride levels were significantly elevated, and the Apo E2 phenotype was significantly more prevalent in patients with severe histological damage as compared with those with mild damage. Conclusion: The Apo E2 phenotype appears to be associated with the severity of histological damage in IgA nephropathy.

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          Apolipoprotein E polymorphism in health and disease.

           G Utermann (1987)
          Genetic polymorphism of apolipoprotein (apo) E is controlled by three common (epsilon 2, epsilon 2, epsilon 4) and several rare alleles (e.g., epsilon 1, epsilon 4*, epsilon 4v) at the apo E structural gene locus and may be demonstrated by isoelectric focusing of delipidated sera followed by immunoblotting. Apo E allele frequencies vary significantly between different ethnic groups. The common apo E isoforms E2 (arg158----cys) and E4 (cys112----arg) differ functionally from the parent E3 isoform, explaining their effects on the normal variance of plasma lipoprotein concentrations and their association with hyperlipidemic conditions. In all studied populations the receptor-binding defective apo E2 (arg158----cys) is associated with low cholesterol and apo B in heterozygotes and results in primary dysbetalipoproteinemia or type III hyperlipoproteinemia in homozygotes. Conversely, the epsilon 4 allele is associated with high cholesterol in Finns and Germans but less or not significantly so in Japanese or Singapore populations. In addition to their effects on the normal variance of lipoprotein concentrations, the alleles epsilon 2 and epsilon 4 are associated with hypertriglyceridemia and hypercholesterolemia, respectively. A working hypothesis explaining these observations is presented.

            Author and article information

            S. Karger AG
            November 1999
            13 October 1999
            : 83
            : 3
            : 246-249
            2nd Department of Internal Medicine, Hiroshima University School of Medicine, Hiroshima, Japan
            45517 Nephron 1999;83:246–249
            © 1999 S. Karger AG, Basel

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            Figures: 1, Tables: 3, References: 19, Pages: 4
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