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On the significance of C2, C4, and factor B polymorphisms in disease

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Summary

In this review article, recent evidence is presented that some diseases like insulin-dependent diabetes mellitus, multiple sclerosis, and idiopathic membranous nephropathy, which are primarily associated with HLA-D,DR, are also related to the rare C2, C4, and Factor B alleles. Circumstantial evidence is available that at least some of these rare variants may be functionally deficient. Based on the concept of functionally interacting gene clusters, mutant complement genes may lead to impaired effector mechanisms in virus neutralization or lysis of virus-infected cells. Other mechanisms such as alteration of vascular permeability may be involved in the development of proliferative retinopathy and familial hypertension. In lepromatous lepra, an impaired cell-mediated lysis of M. leprae may be related to the hemolytically inactive C4F1 allelic product.

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Authors and Affiliations

  1. Institut für Rechtsmedizin, Universität Bonn, D-5300, Bonn, Germany

    Christian Rittner

  2. Abteilung für Laboratoriumsmedizin, Elisabeth-Krankenhaus, D-4300, Essen 1, Germany

    Jörg Bertrams

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  1. Christian Rittner
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The authors' original work was supported in part by grants from Deutsche Forschungsgemeinschaft (Ri 164/14, Be 758/4, SFB 113, B3)

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Rittner, C., Bertrams, J. On the significance of C2, C4, and factor B polymorphisms in disease. Hum Genet 56, 235–247 (1981). https://doi.org/10.1007/BF00274674

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