Higher complement C4 gene copy number constitutes a shared genetic risk factor for giant cell arteritis and IgA vasculitis
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The authors aimed to investigate whether variations in the copy number of the complement C4 gene contribute to the risk of developing giant cell arteritis (GCA) and IgA vasculitis (IgAV). They found that higher copy numbers of C4, particularly C4B in males for GCA and C4A in the overall cohort for IgAV, are associated with increased disease susceptibility, indicating a shared genetic risk factor linked to complement dysregulation and inflammation. This study highlights the importance of sex-dependent genetic factors in these complex vasculitides.
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