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Endothelial nitric oxide synthase gene polymorphism is associated with systemic lupus erythematosus

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dc.creatorAnaya, Juan-Manuel
dc.creatorPaez, Carolinaspa
dc.creatorSerrano, Normaspa
dc.creatorCorrea, Paulaspa
dc.date.accessioned2020-08-19T14:43:08Z
dc.date.available2020-08-19T14:43:08Z
dc.date.created2004spa
dc.description.abstractObjective. In systemic lupus erythematosus (SLE), endothelial nitric oxide synthase (eNOS) gene locus has been found to be suggestive of linkage with disease, nitric oxide (NO) is produced in significant amounts, and endothelial cell dysfunction is observed. eNOS gene polymorphism may affect both the synthesis of eNOS protein and its enzymatic activity. We examined the influence of eNOS gene polymorphisms on susceptibility to SLE. Methods. Genomic DNA from 88 Northwestern Colombian women with SLE, as well as 199 controls matched for sex, age, and ethnicity, was genotyped for the –786T?C polymorphism in the promoter region, the intron 4 variable number of tandem repeats, and the Glu298Asp polymorphism in exon 7 of the eNOS gene by polymerase chain reaction and restriction fragment length polymorphism techniques. Haplotype and allele frequency comparisons, a Hardy-Weinberg equilibrium test, and linkage disequilibrium (LD) analysis were performed. Results. The intron 4b allele was associated with SLE (OR 2.2, 95% CI 1.29–3.60, pc = 0.005) as was the 4bb genotype (OR 2.9, 95% CI 1.61–5.33, pc = 0.0009), while the 4a allele was protective (OR 0.4, 95% CI 0.26–0.76, pc = 0.005), as was the 4ab genotype (OR 0.29, 95% CI 0.15–0.56, pc < 0.0001). In controls, all loci were in linkage disequilibrium (p < 0.02). In patients, intron 4 was in Hardy-Weinberg disequilibrium, due to an excess of homozygotes (p = 0.01). Conclusion. eNOS polymorphism influences SLE predisposition. Since intron 4bb genotype is responsible for higher levels of eNOS synthesis and intron 4 ab genotype is associated with lower synthesis, our results might provide insight into the elevated levels of NO observed in SLE patients.eng
dc.format.mimetypeapplication/pdf
dc.identifier.issnISSN: 0315-162X
dc.identifier.issnEISSN: 1499-2752
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/27645
dc.language.isoengspa
dc.publisherThe Journal of Rheumatologyspa
dc.relation.citationEndPage2168
dc.relation.citationIssueNo. 11
dc.relation.citationStartPage2163
dc.relation.citationTitleJournal of Rheumatology
dc.relation.citationVolumeVol. 31
dc.relation.ispartofJournal of Rheumatology, ISSN: 0315-162X;EISSN: 1499-2752, Vol.31, No.11 (1 Noviembre 2004); pp. 2163-2168spa
dc.relation.urihttps://www.jrheum.org/content/jrheum/31/11/2163.full.pdfspa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.sourceJournal of Rheumatologyspa
dc.source.instnameinstname:Universidad del Rosario
dc.source.reponamereponame:Repositorio Institucional EdocUR
dc.subject.keywordSystemic Lupus Erythematosusspa
dc.subject.keywordEndothelial Nitric Oxide Synthasespa
dc.subject.keywordPolymorphismspa
dc.subject.keywordLupus Nephritisspa
dc.subject.keywordAutoantibodiesspa
dc.subject.keywordGeneticsspa
dc.titleEndothelial nitric oxide synthase gene polymorphism is associated with systemic lupus erythematosusspa
dc.title.TranslatedTitleEl polimorfismo del gen de la óxido nítrico sintasa endotelial está asociado con el lupus eritematoso sistémicospa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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