ArticlePLoS genetics2019
Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis.
Article in PLoS genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 3 of them syntheses that pooled it.
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Who cites it
31 citing papers in PubMed, 3 syntheses or guidelines pooled it, 62 citations in OpenAlex.
- GWAS meta-analysis of axial spondyloarthritis and Behçet's disease identifies CXCR6 as a novel MHC-I-opathy gene in a Turkish population.Clinical rheumatology · 2025Pooled it
- Non-genetic biomarkers for ankylosing spondylitis: An umbrella review.Journal of clinical laboratory analysis · 2022Pooled it
- Circulating interleukin-23 levels in ankylosing spondylitis and their correlation with disease activity : A meta-analysis.Zeitschrift fur Rheumatologie · 2021Pooled it
- Monogenic disorders of immunity: Common variants are not so rare.Cell genomics · 2026Review
- Global epidemiology of spondyloarthritis.Nature reviews. Rheumatology · 2025Review
- Multi-omic insights from a multi-ancestry genome-wide meta-analysis of ankylosing spondylitis reveal novel pathways of disease susceptibility.Research square · 2025Article
- Cuproptosis genes in predicting the occurrence of allergic rhinitis and pharmacological treatment.PloS one · 2025Article
- Development and implementation of the international AIDA network spondylarthritis registry.Frontiers in medicine · 2025Article
- Familial mediterranean fever in a patient with ankylosing spondylitis: could familial mediterranean fever explain a typical eight-year ankylosing spondylitis?Rheumatology international · 2024Review
- Exploring the Pathogenesis of Spondylarthritis beyond HLA-B27: A Descriptive Review.International journal of molecular sciences · 2024Review
- HLA-B*27 and Ankylosing Spondylitis: 50 Years of Insights and Discoveries.Current rheumatology reports · 2023Review
- Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study.Archives of rheumatology · 2023Article
- From Bench to Bedside in Rheumatoid Arthritis from the "2022 GISEA International Symposium".Journal of clinical medicine · 2023Review
- Axial spondyloarthritis in patients with recurrent fever attacks: data from the AIDA network registry for undifferentiated autoInflammatory diseases (USAIDs).Frontiers in medicine · 2023Article
- Identification of multiple novel susceptibility genes associated with autoimmune thyroid disease.Frontiers in immunology · 2023Article
- Autoinflammatory manifestations in adult patients.Clinical and experimental immunology · 2022Article
- Genome-wide association study reveals ethnicity-specific SNPs associated with ankylosing spondylitis in the Taiwanese population.Journal of translational medicine · 2022Article
- The genetic backbone of ankylosing spondylitis: how knowledge of genetic susceptibility informs our understanding and management of disease.Rheumatology international · 2022Review
- T cell Repertoire Profiling and the Mechanism by which HLA-B27 Causes Ankylosing Spondylitis.Current rheumatology reports · 2022Review
- Spondyloarthritis in familial Mediterranean fever: a cohort study.Rheumatology international · 2022Article
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Authors and funding
30 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ankylosing spondylitis (AS) is a highly heritable immune-mediated arthritis common in Turkish and Iranian populations. Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disease most common in people of Mediterranean origin. MEFV, an FMF-associated gene, is also a candidate gene for AS. We aimed to identify AS susceptibility loci and also examine the association between MEFV and AS in Turkish and Iranian cohorts. We performed genome-wide association studies in 1001 Turkish AS patients and 1011 Turkish controls, and 479 Iranian AS patients and 830 Iranian controls. Serum IL-1β, IL-17 and IL-23 cytokine levels were quantified in Turkish samples. An association of major effect was observed with a novel rare coding variant in MEFV in the Turkish cohort (rs61752717, M694V, OR = 5.3, P = 7.63×10(-12)), Iranian cohort (OR = 2.9, P = 0.042), and combined dataset (OR = 5.1, P = 1.65×10(-13)). 99.6% of Turkish AS cases, and 96% of those carrying MEFV rs61752717 variants, did not have FMF. In Turkish subjects, the association of rs61752717 was particularly strong in HLA-B27-negative cases (OR = 7.8, P = 8.93×10(-15)), but also positive in HLA-B27-positive cases (OR = 4.3, P = 7.69×10(-8)). Serum IL-1β, IL-17 and IL-23 levels were higher in AS cases than controls. Among AS cases, serum IL-1β and IL-23 levels were increased in MEFV 694V carriers compared with non-carriers. Our data suggest that FMF and AS have overlapping aetiopathogenic mechanisms. Functionally important MEFV mutations, such as M694V, lead to dysregulated inflammasome function and excessive IL-1β function. As IL-1 inhibition is effective in FMF, AS cases carrying FMF-associated MEFV variants may benefit from such therapy.
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