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Polymorphism of the endothelin-1 gene(rs5370)is a potential contributor to sickle cell disease pathophysiology

genes & Diseases 2016年第4期3卷 294-298页

作者： kristen g.navarro Smith E.Agyingi Chinedu K.Nwabuobi Bolaji N.Thomas Department of Biomedical Sciences Rochester Institute of TechnologyRochesterNY14623USA Department of Obstetrics and gynecology University of South FloridaTampaFLUSA

Sickle cell disease has been shown to demonstrate extensive variability in disease severity among and between individuals,the variability highlighted by differing genetic haplotypes.Despite the abundance of reports of functional significance due to polymorphisms of endothelial nitric oxide synthase(eNOS)and endothelin-1(ET-1)genes,the role of these polymorphisms in mediating sickle cell disease pathophysiology among African Americans is presently unclear.To deconvolute their potential significance among African Americans with sickle cell disease,we examined the genetic diversity and haplotype frequency of eNOS and ET-1 polymorphisms in disease(n Z 331)and control(n Z 379)groups,with a polymerase echain reaction restriction fragment length polymorphism assay.We report that genotypic and allelic frequencies of eNOS variants are not significantly different between groups.eNOS homozygote mutants,which had been shown to have clinical significance elsewhere,showed no statistical significance in our study.On the other hand,and contrary to previous report among Africans with sickle cell disease,the endothelin-1 homozygous mutant variant showed significant difference in genotypic(p Z 2.84E-12)and allelic frequencies(p Z 2.20E-16)between groups.The most common haplotype is the combination of T786C homozygote wildtype variant with homozygote mutant variants of g5665T(ET-1)and glu298Asp(eNOS).These results show that endothelin-1(rs5370)polymorphism,rather than endothelial nitric oxide synthase polymorphism might play a significant role in disease severity or individual clinical outcomes among African Americans with sickle cell disease.This would have profound implications for designing and/or advancing personalized care for sickle cell patients and relieving disease complications.

关键词： Endothelial nitric oxide synthase Endothelin-1 Pathophysiology Polymorphisms Sickle cell disease

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