Pediatric Nephrology

, Volume 25, Issue 10, pp 2077–2082 | Cite as

MEFV E148Q polymorphism is associated with Henoch–Schönlein purpura in Chinese children

  • Xuelian HeEmail author
  • Hao Lu
  • Shixiu Kang
  • Jiangwei Luan
  • Zhisheng Liu
  • Wei Yin
  • Hui Yao
  • Yan Ding
  • Tao Li
  • Chew-Kiat Heng
Original Article


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.


Susceptibility Henoch–Schönlein purpura nephritis Association Pyrin MEFV 



This study was funded by the supporting program of the Ministry of Human Resource of China Oversea Returned scholars.


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Copyright information

© IPNA 2010

Authors and Affiliations

  • Xuelian He
    • 1
  • Hao Lu
    • 2
  • Shixiu Kang
    • 1
  • Jiangwei Luan
    • 1
  • Zhisheng Liu
    • 1
  • Wei Yin
    • 1
  • Hui Yao
    • 1
  • Yan Ding
    • 1
  • Tao Li
    • 1
  • Chew-Kiat Heng
    • 3
  1. 1.Wuhan Children’s HospitalJiangan DistrictPeople’s Republic of China
  2. 2.Institute of Molecular and Cell BiologyA*STAR (Agency for Science, Technology and Research)SingaporeSingapore
  3. 3.Department of Paediatrics, Yong Loo Lin School of MedicineNational University of SingaporeSingaporeSingapore

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