Endothelial nitric oxide synthase (eNOS) genetic polymorphisms among Egyptian systemic lupus erythematosus and rheumatoid arthritis patients

被引：0

作者：

Raafat I.I. ^{[1
]}

Shaheen N.M.H. ^{[1
]}

Yacoub M.H. ^{[1
]}

Kamel M.A. ^{[1
]}

Gheith R.S. ^{[2
]}

机构：

[1] Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Giza

[2] Rheumatology Department, Faculty of Medicine, Cairo University, Giza

来源：

Comparative Clinical Pathology | 2013年 / 22卷 / 4期

关键词：

Endothelial nitric oxide synthase (eNOS); Genetic polymorphisms; Polymerase chain reaction; Rheumatoid arthritis; Systemic lupus erythematosus;

D O I：

10.1007/s00580-012-1455-0

中图分类号：

学科分类号：

摘要：

Several genetic polymorphisms in the endothelial nitric oxide (eNOS) gene have been associated with different vascular, infectious, and autoimmune disease in some populations. These polymorphisms may alter the levels of eNOS expression, thus being relevant either to the pathogenesis or progression of these diseases. We aimed to assess the prevalence of eNOS genetic polymorphisms namely, the 27-bp repeat in intron 4 by polymerase chain reaction (PCR) and T-786C mutation by PCR-RFLP, among Egyptian systemic lupus erythematosus patients (SLE) and rheumatoid arthritis (RA) patients. The study included 34 SLE and 34 RA patients. Forty-six age, sex, and ethnically matched healthy volunteers were included in the current study as a control group. The frequencies of intron 4 and T-786C polymorphisms in the SLE patient group were 73.5 % for the wild type versus 26.5 % for the polymorphic types and 38.2 % for the wild type versus 50 % for the heteromutant type and 11.8 % for the homomutant type, respectively. As for the RA group the frequencies of intron 4 and T-786C polymorphisms in the patient group were 76.5 % for the wild type versus 23.5 % for the polymorphic types and 44.1 % for the wild type versus 55.9 % for the polymorphic type, respectively, with no statistically significant difference in the distribution of the genotypes between SLE and RA patients and the control group. No association was detected between these genetic polymorphisms and the clinical features of the patients apart from an association between the T-786C genetic polymorphism and the extra-articular manifestations of RA. © 2012 Springer-Verlag London Limited.

引用

页码：617 / 625

页数：8

共 18 条

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