ArticlePediatric nephrology (Berlin, Germany)2010
MEFV E148Q polymorphism is associated with Henoch-Schönlein purpura in Chinese children.
Article in Pediatric nephrology (Berlin, Germany), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- The genetics of Henoch-Schönlein purpura: a systematic review and meta-analysis.Rheumatology international · 2013Pooled it
- Advances in multi-omics and therapeutic studies of Henoch-Schönlein purpura.Italian journal of pediatrics · 2025Review
- Associations ofHeliyon · 2024Article
- IgA vasculitis update: Epidemiology, pathogenesis, and biomarkers.Frontiers in immunology · 2022Review
- Article
- A case of adult onset Still's disease with mutations of the MEFV gene who is partially responsive to colchicine.Medicine · 2018Article
- HLA-DRB1 gene polymorphisms in Iranian children with Henoch-Schönlein purpura.Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2018Article
- The association between MEFV gene polymorphisms and Henoch-Schönlein purpura, and additional SNP-SNP interactions in Chinese Han children.Rheumatology international · 2017Article
- A clinical guide to autoinflammatory diseases: familial Mediterranean fever and next-of-kin.Nature reviews. Rheumatology · 2014Review
- MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura.Pediatric rheumatology online journal · 2014Article
- C1GALT1 polymorphisms are associated with Henoch-Schönlein purpura nephritis.Pediatric nephrology (Berlin, Germany) · 2012Article
- Serum amyloid A levels associated with gastrointestinal manifestations in Henoch-Schönlein purpura.Inflammation · 2012Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Henoch-Schönlein purpura (HSP) is a multifactorial inflammatory disease whose pathogenesis remains unknown. Pyrin encoded by the MEFV gene (NM_000243; OMIM 608107) is an important active member of the inflammasome and has been shown to affect the expression of many of the genes involved in immune and inflammatory responses. The aim of our study was to elucidate the possible roles of MEFV genetic variants on the susceptibility to HSP and its clinical outcomes in 78 patients with HSP and 189 controls in China. A significant association was found between the E148Q polymorphism (G->C) and HSP susceptibility (odds ratio 2.76, 95% confidence interval 1.76-4.34, P=0.0001). The C allele of E148Q was associated with joint involvement (P=0.014) but not with HSP nephritis (P=0.1). The clinical score was higher in subjects with the CC genotype than in those with the CG or GG genotype (4.13+/-3.53 vs. 1.94+/-1.70, respectively; P=0.011). P369S was not associated with HSP or other phenotypes. M694V and M680I were absent in our patients. Our results suggest that MEFV E148Q could be a contributory genetic factor to HSP and HSP-related joint syndromes.
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