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C4 complement allotypes in juvenile dermatomyositis.

S A Robb1, A H Fielder, C E Saunders

  • 1Department of Paediatrics, Royal Postgraduate School, Hammersmith Hospital, London, England.

Human Immunology
|May 1, 1988
PubMed
Summary
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Juvenile dermatomyositis patients show a strong association with specific HLA markers, particularly null alleles of the C4 gene, suggesting a role in disease susceptibility.

Area of Science:

  • Immunogenetics
  • Rheumatology
  • Human Genetics

Background:

  • Juvenile dermatomyositis (JDM) is an autoimmune disease with suspected genetic components.
  • Previous studies indicate associations between JDM and Human Leukocyte Antigen (HLA) region markers like B8 and DR3.

Purpose of the Study:

  • To investigate the segregation patterns of HLA class I, II, and III markers, including complement polymorphisms (C4A, C4B, Bf, C2), in JDM patients and their families.
  • To identify specific genetic markers associated with disease susceptibility in JDM.

Main Methods:

  • Studied twenty JDM probands and their relatives.
  • Analyzed inherited segregation patterns of HLA region markers and complement polymorphisms (C4A, C4B, Bf, C2).
  • Identified specific haplotypes, including extended haplotypes with complement null alleles.

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Main Results:

  • The extended haplotype B8, DR3, C4A*Q0, C4B*1, C2*C, and Bf*S was found in 13 out of 20 JDM probands.
  • A significant proportion of probands carried null alleles for C4A or C4B (5 out of 20), with only two lacking any detectable C4 null allele.
  • Confirmed high frequencies of B8 and DR3 in JDM patients, but found a stronger association with C4 null alleles.

Conclusions:

  • The study reinforces the association of HLA-B8 and HLA-DR3 with juvenile dermatomyositis.
  • Null alleles of the C4 gene demonstrate a higher association with JDM than previously recognized.
  • These findings suggest that C4 genes may be direct disease-susceptibility genes or are in strong linkage disequilibrium with them in JDM.