Risk loci involved in giant cell arteritis susceptibility: a genome-wide association study.
Borrego-Yaniz G, Ortiz-Fernández L, Madrid-Paredes A et al.
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Giant cell arteritis is an age-related vasculitis that mainly affects the aorta and its branches in individuals aged 50 years and older. Current options for diagnosis and treatment are scarce, highlighting the need to better understand its underlying pathogenesis. Genome-wide association studies (GWAS) have emerged as a powerful tool for unravelling the pathogenic mechanisms involved in complex diseases. We aimed to characterise the genetic basis of giant cell arteritis by performing the largest GWAS of this vasculitis to date and to assess the functional consequences and clinical implications of identified risk loci.
3,498 European ancestry cases, 15,550 European ancestry controls
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