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内皮型一氧化氮合酶基因多态性与过敏性紫癜之间无关联。

Lack of association between endothelial nitric oxide synthase polymorphisms and Henoch-Schönlein purpura.

作者信息

Amoli Mahsa M, Garcia-Porrua Carlos, Calviño Maria C, Ollier William E R, Gonzalez-Gay Miguel A

机构信息

Centre for Integrated Genomic Medical Research, School of Epidemiology and Health Sciences, the University of Manchester, Manchester, United Kingdom.

出版信息

J Rheumatol. 2004 Feb;31(2):299-301.

Abstract

OBJECTIVE

To assess the influence of endothelial nitric oxide synthase (eNOS) polymorphisms in the susceptibility and clinical expression of patients with cutaneous vasculitis fulfilling classification criteria for Henoch-Schönlein purpura (HSP).

METHODS

Fifty patients from Northwest Spain with primary cutaneous vasculitis classified as HSP were studied. Patients and ethnically matched controls (n = 117) were genotyped by polymerase chain reaction techniques for a variable-number tandem-repeat polymorphism in intron 4, a T/C polymorphism at position -786 in the promoter region, and a polymorphism in exon 7 (298Glu/Asp or 5557G/T) of the eNOS gene.

RESULTS

No differences in allele or genotype frequencies for any of the individual eNOS polymorphisms were observed between patients fulfilling HSP classification criteria and controls, or when patients were stratified for the presence of nephritis or joint or gastrointestinal manifestations. In the HSP group no linkage disequilibrium between these polymorphisms was found. No significant difference in haplotype frequencies was observed between patients and controls.

CONCLUSION

Our results do not support a role for these polymorphisms in the susceptibility to HSP.

摘要

目的

评估内皮型一氧化氮合酶(eNOS)基因多态性对符合过敏性紫癜(HSP)分类标准的皮肤血管炎患者易感性及临床表型的影响。

方法

对西班牙西北部50例被分类为HSP的原发性皮肤血管炎患者进行研究。采用聚合酶链反应技术对患者及种族匹配的对照者(n = 117)进行基因分型,检测eNOS基因第4内含子的可变数目串联重复多态性、启动子区域-786位的T/C多态性以及第7外显子(298Glu/Asp或5557G/T)的多态性。

结果

在符合HSP分类标准的患者与对照者之间,或者在根据是否存在肾炎、关节或胃肠道表现对患者进行分层时,未观察到任何单个eNOS基因多态性的等位基因或基因型频率存在差异。在HSP组中,未发现这些多态性之间存在连锁不平衡。患者与对照者之间单倍型频率未观察到显著差异。

结论

我们的结果不支持这些多态性在HSP易感性中起作用。

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