SynthesisRheumatology (Oxford, England)2026
Exploring the genetic interaction between ERAP1/ERAP2 and HLA-B*52:01 in Takayasu arteritis.
Synthesis in Rheumatology (Oxford, England), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
objectivesTakayasu arteritis is a rare vasculitis characterized by inflammation of large arteries. Given the robust genetic association with HLA-B*52:01, it was recently proposed to classify Takayasu arteritis within the spectrum of MHC-I-opathies. Although genetic associations in ERAP1 and ERAP2 have been described in several MHC-I-opathies, their role in Takayasu arteritis remains unclear. This study investigated the genetic interaction between ERAP1/ERAP2 and HLA-B*52:01 in Takayasu arteritis.
methodsUsing data from a large multi-ancestral GWAS, we examined the genetic association between ERAP1 and ERAP2 polymorphisms with Takayasu arteritis. Next, we conducted genetic interaction analyses between ERAP1/ERAP2 polymorphisms and HLA-B*52:01, followed by a meta-analysis across populations. In addition, we conducted a genetic association test for ERAP1/ERAP2 polymorphisms restricted to HLA-B*52:01-positive individuals.
resultsOur analyses suggested no significant genetic interactions between ERAP1 or ERAP2 and HLA-B*52:01 in Takayasu arteritis, which contrasts with the findings observed in other MHC-I-opathies. In addition, no significant associations between ERAP1/ERAP2 and Takayasu arteritis were detected, including analyses under dominant or recessive models, or after stratifying by HLA-B*52:01 status.
conclusionThese results suggest that the genetic profile of Takayasu arteritis differs from other MHC-I-opathies, supporting its classification as a distinct subtype within this group of immune-mediated diseases. These finding are hypothesis-generating, and validation in larger cohorts is warranted.
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