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The association of endothelial nitric oxide synthase gene single nucleotide polymorphisms with paediatric systemic lupus erythematosus

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机构： [1]Division of Paediatric Rheumatology, The Affiliated Children’s Hospital, Capital Institute of Paediatrics, Beijing, China. [2]Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Paediatrics, Beijing, China. [3]Division of Paediatric Rheumatology, The Affiliated Children’s Hospital, Capital Institute of Paediatrics, Beijing, China. [4]Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Paediatrics, Beijing, China. [5]Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Paediatrics, Beijing, China. [6]Division of Paediatric Rheumatology, The Affiliated Children’s Hospital, Capital Institute of Paediatrics, Beijing, China.

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关键词： Central nervous system damage Endothelial nitric oxide synthase Paediatric systemic lupus erythematosus Single nucleotide polymorphisms

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Objective Endothelial nitric oxide synthase (eNOS) is a type of nitric oxide synthase that mainly exists in the endothelium. It produces nitric oxide (NO) to regulate the function of endothelial cells. Endothelial dysfunction and increased NO metabolites have been shown in animal models of lupus and in lupus patients, so eNOS gene polymorphisms may be important in the pathogenesis of SLE. This study aimed to investigate the association of the single nucleotide polymorphisms (SNPs) of eNOS and paediatric systemic lupus erythematosus (pSLE). Methods A total of 91 pSLE cases and 90 healthy controls were used in this study. We divided these patients into 4 subgroups according to kidney or central nervous system involvement. Four selected SNPs in the gene were analysed with MALDI-TOF mass spectrometry. Statistical methods were carried out to investigate the correlation between the SNPs and pSLE. Results SNP rs1808593 genotype GT in case group were significantly higher than those in the control group (p=0.047), and the genotype GT had positive correlation with pSLE (OR=1.93, 95% CI: 1.01-3.69). In subgroup C (the patients with central nervous system but no kidney damage), the genotype GT was significantly higher than those in the control group (p=0.028), and the genotype GT was related to pSLE with central nervous system damage (OR=6.24, 95% CI: 1.17-33.15). In male patients, we found SNP rs1808593 genotype GT in pSLE group was significantly higher than in the control group (p=0.0065), and the risk of pSLE increased in patients with genotype GT (OR=8.36, 95% CI: 2.02-34.6). Conclusion SNP rs1808593 GT genotype is significantly higher than that in the control group, which may indicate that this genotype increases the risk of pSLE, especially in boys, and also this genotype might increase the risk of central nervous system involvement. Therefore, eNOS gene SNP rs1808593 genotype may have an important role in predicting the occurrence of pSLE and central nervous system complications in pSLE. © Clinical and Experimental Rheumatology 2018.

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出版当年[2017]版：

大类 | 3 区医学

小类 | 3 区风湿病学

最新[2023]版：

大类 | 4 区医学

小类 | 4 区风湿病学

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第一作者机构： [1]Division of Paediatric Rheumatology, The Affiliated Children’s Hospital, Capital Institute of Paediatrics, Beijing, China.

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