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Updated: Apr 29, 2026

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Higher Complement C4 Gene Copy Number Constitutes a Shared Genetic Risk Factor for Giant Cell Arteritis and IgA

Laura Martínez-Gutiérrez1, Gonzalo Borrego-Yaniz1, José Hernández-Rodríguez2

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Higher copy number (CN) of complement C4 (C4) gene variants increases the risk for giant cell arteritis (GCA) and IgA vasculitis (IgAV), particularly in males. This sex-dependent genetic factor suggests shared mechanisms in these immune-mediated inflammatory diseases.

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Area of Science:

  • Immunogenetics
  • Complement System Biology
  • Vascular Inflammation

Background:

  • Low copy number (CN) of complement C4 (C4) isoforms and high CN of HERV-K elements are established risk factors for immune-mediated inflammatory diseases (IMIDs), often with sex-biased effects.
  • Giant cell arteritis (GCA) and IgA vasculitis (IgAV) are complex vasculitides associated with complement dysregulation.
  • The role of C4 gene CN variation in the pathogenesis of GCA and IgAV remains largely unexplored.

Purpose of the Study:

  • To investigate the association between C4 gene copy number variation (CNV) and the risk of developing GCA and IgAV.
  • To determine if these associations are sex-dependent.
  • To explore the independence of these genetic associations from classical human leukocyte antigen (HLA) alleles.

Main Methods:

  • C4A, C4B, and HERV-K copy numbers were imputed from genotypic data.
  • A large cohort including 3,498 GCA patients, 284 IgAV patients, and 16,867 controls was analyzed.
  • Statistical analyses evaluated associations with vasculitis risk, stratified by sex, and adjusted for classical HLA alleles.

Main Results:

  • Contrary to other IMIDs, higher C4 CN was associated with increased risk for GCA and IgAV.
  • In GCA, higher C4B CN conferred risk in male patients (OR = 1.23).
  • In IgAV, elevated C4A CN was significantly associated with disease susceptibility overall (OR = 1.68), and C4B CN showed a male-biased trend (OR = 1.46). These associations were independent of HLA alleles.

Conclusions:

  • Sex-dependent variation in C4 CN represents a novel genetic risk factor for GCA and IgAV.
  • These findings suggest shared biological mechanisms underlying these vasculitides, involving complement dysregulation, sustained inflammation, and vascular damage.
  • C4 CNV may play a significant role in the sex-specific susceptibility to certain immune-mediated inflammatory diseases.