Martin Javier, Paco Laura, Ruiz Maria P, Lopez-Nevot Miguel A, Garcia-Porrua Carlos, Amoli Mahsa M, Calviño Maria C, Ollier William E R, Gonzalez-Gay Miguel A
Instituto de Parasitologia y Biomedicina Lopez-Neyra, CSIC, Granada, Spain.
J Rheumatol. 2005 Jun;32(6):1081-5.
To assess the contribution of 2 polymorphisms within the inducible nitric oxide (NOS2A) promoter region to the susceptibility to Henoch-Schönlein purpura (HSP), and to determine if implications exist with severe systemic complications of HSP, in particular with severe renal involvement and permanent renal dysfunction (renal sequelae).
Fifty-eight patients from Northwest Spain with primary cutaneous vasculitis classified as HSP were studied. All patients were required to have had at least 2 years' followup. Patients and ethnically matched controls (n=251) were genotyped by PCR based techniques for a multiallelic (CCTTT)n and for the biallelic TAAA repeat in the promoter region of the NOS2A gene.
HSP patients exhibited a significantly increased frequency of the NOS2A short (8-11) CCTTTn alleles (OR 1.64, 95% CI 1.09-2.47, p=0.017) and genotypes (OR 3.59, 95% CI 1.79-7.20, p=0.0002) compared to controls, particularly when patients with nephritis were compared with controls. However, when the NOS2A TAAA repeat polymorphism was assessed, no differences were found.
Significant differences in the NOS2A promoter polymorphism allele and genotype frequency between HSP patients and controls suggest a potential role for this gene in the susceptibility to HSP and in the development of nephritis.
评估诱导型一氧化氮合酶（NOS2A）启动子区域内的2种多态性对过敏性紫癜（HSP）易感性的影响，并确定其与HSP严重全身并发症，特别是严重肾脏受累和永久性肾功能不全（肾脏后遗症）是否存在关联。
对西班牙西北部58例原发性皮肤血管炎分类为HSP的患者进行研究。所有患者均需至少随访2年。采用基于PCR的技术对患者和种族匹配的对照（n = 251）进行NOS2A基因启动子区域多等位基因（CCTTT）n和双等位基因TAAA重复序列的基因分型。
与对照组相比，HSP患者中NOS2A短（8 - 11）CCTTTn等位基因（OR 1.64，95%CI 1.09 - 2.47，p = 0.017）和基因型（OR 3.59，95%CI 1.79 - 7.20，p = 0.0002）的频率显著增加，尤其是肾炎患者与对照组相比时。然而，在评估NOS2A TAAA重复多态性时，未发现差异。
HSP患者与对照组之间NOS2A启动子多态性等位基因和基因型频率存在显著差异，提示该基因在HSP易感性及肾炎发生中可能起作用。
