ArticleAmerican journal of human genetics2013
Two susceptibility loci to Takayasu arteritis reveal a synergistic role of the IL12B and HLA-B regions in a Japanese population.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers, 3 of them syntheses that pooled it.
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Who cites it
66 citing papers in PubMed, 3 syntheses or guidelines pooled it, 163 citations in OpenAlex.
- Transethnic meta-analysis identifiesAnnals of the rheumatic diseases · 2017Pooled it
- Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy.Scientific reports · 2017Pooled it
- Relationship of HLA-B*51 and HLA-B*52 alleles and TNF-α-308A/G polymorphism with susceptibility to Takayasu arteritis: a meta-analysis.Clinical rheumatology · 2017Pooled it
- Family-based genome-wide association study of leprosy in Vietnam.PLoS pathogens · 2020Trial
- The role of CD34-high endothelial cells and FGF2 in vasa vasorum angiogenesis of Takayasu arteritis.Clinical rheumatology · 2026Article
- Janus Kinase inhibitors in the treatment of large vessel vasculitis: a systematic review and meta-analysis.Open medicine (Warsaw, Poland) · 2026Article
- Advances in the pathophysiology, diagnosis and treatment of Takayasu arteritis.Nature reviews. Rheumatology · 2025Review
- Takayasu arteritis complicated by SAPHO syndrome: A case-based review.Clinical rheumatology · 2025Review
- Phase 3, multicentre, randomized, double-blind, placebo-controlled, parallel-group study of ustekinumab in patients with Takayasu arteritis.Rheumatology advances in practice · 2025Article
- Functional and Practical Insights Into the Genetic Basis of Takayasu Arteritis.ACR open rheumatology · 2025Review
- Infliximab rather than tocilizumab for HLA-B52-positive Takayasu arteritis?Clinical rheumatology · 2024Article
- Successful pregnancies in a patient with Takayasu arteritis and antiphospholipid syndrome, maintained on infliximab corticosteroid-free regimen: case-based review.Rheumatology international · 2024Review
- A Glimpse into Humoral Response and Related Therapeutic Approaches of Takayasu's Arteritis.International journal of molecular sciences · 2024Review
- Frequency and the effects of spondyloarthritis-spectrum disorders on the clinical course and management of Takayasu arteritis: an observational retrospective study.Clinical rheumatology · 2024Observational
- Baricitinib for refractory Takayasu arteritis: a prospective cohort study in a tertiary referral centre.RMD open · 2024Article
- A retrospective study of infantile-onset Takayasu arteritis: experience from a tertiary referral center in China.Frontiers in cardiovascular medicine · 2024Article
- Angiogenesis related genes in Takayasu Arteritis (TAK): robust association with Tag SNPs of IL-18 and FGF-2 in a South Asian Cohort.Journal of human genetics · 2024Article
- Anti-integrin αvβ6 antibody in Takayasu arteritis patients with or without ulcerative colitis.Frontiers in immunology · 2024Article
- Pathophysiology, Diagnosis, and Management of Takayasu Arteritis: A Review of Current Advances.Cureus · 2023Review
- Animal models for large vessel vasculitis - The unmet need.Rheumatology and immunology research · 2023Review
6 more citing papers are in PubMed but not listed here.
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Authors and funding
32 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Takayasu arteritis (TAK) is an autoimmune systemic vasculitis of unknown etiology. Although previous studies have revealed that HLA-B*52:01 has an effect on TAK susceptibility, no other genetic determinants have been established so far. Here, we performed genome scanning of 167 TAK cases and 663 healthy controls via Illumina Infinium Human Exome BeadChip arrays, followed by a replication study consisting of 212 TAK cases and 1,322 controls. As a result, we found that the IL12B region on chromosome 5 (rs6871626, overall p = 1.7 × 10(-13), OR = 1.75, 95% CI 1.42-2.16) and the MLX region on chromosome 17 (rs665268, overall p = 5.2 × 10(-7), OR = 1.50, 95% CI 1.28-1.76) as well as the HLA-B region (rs9263739, a proxy of HLA-B*52:01, overall p = 2.8 × 10(-21), OR = 2.44, 95% CI 2.03-2.93) exhibited significant associations. A significant synergistic effect of rs6871626 and rs9263739 was found with a relative excess risk of 3.45, attributable proportion of 0.58, and synergy index of 3.24 (p ≤ 0.00028) in addition to a suggestive synergistic effect between rs665268 and rs926379 (p ≤ 0.027). We also found that rs6871626 showed a significant association with clinical manifestations of TAK, including increased risk and severity of aortic regurgitation, a representative severe complication of TAK. Detection of these susceptibility loci will provide new insights to the basic mechanisms of TAK pathogenesis. Our findings indicate that IL12B plays a fundamental role on the pathophysiology of TAK in combination with HLA-B(∗)52:01 and that common autoimmune mechanisms underlie the pathology of TAK and other autoimmune disorders such as psoriasis and inflammatory bowel diseases in which IL12B is involved as a genetic predisposing factor.
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