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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Endothelin-1 but not endothelial nitric oxide synthase gene polymorphism is associated with sickle cell disease in Africa
Gene Regulation and Systems Biology, Volume 2014, No. 8, Year 2014
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Description
Sickle cell disease shows marked variability in severity and pathophysiology among individuals, probably linked to differential expression of various adhesion molecules. In this study, we investigated the differential distribution, genomic diversity and haplotype frequency of endothelial nitric oxide synthase (eNOS) and endothelin-1 (ET-1) polymorphisms, recently implicated as important in modification of disease severity. One hundred and forty five sickle cell disease patients (HbSS) and 244 adult and pediatric controls, without sickle cell disease (HbAA), were recruited from Mali. Genotypic analysis of the functionally significant eNOS variants (T786C, G894T and intron 4) and endothelin-1 (G5665T) was carried out with a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. Our results show that the wild type alleles are the most frequent for all eNOS vari-ants between cases and controls. Allelic and genotypic frequencies of eNOS polymorphic groups are not significantly different between cases and controls (P. 0.05). In addition, there is no association between eNOS variants and sickle cell disease, contrary to published reports. On the other hand, we report that endothelin-1 (G5665T) mutant variant had the lowest allelic frequency, and is significantly associated with sickle cell disease in Africa (P, 0.05). Similarly, haplotype frequencies were the same between cases and controls, except for the haplotype combining all mutant variants (T, C, 4a; P = 0.01). eNOS polymorphic variants are less frequent, with no significance with sickle cell disease in Africa. On the other hand, endothelin-1 is associated with sickle cell disease, and has the capacity to redefine pathophysiology and possibly serve as modulator of disease phenotype. © the authors, publisher and licensee Libertas Academica Limited.
Authors & Co-Authors
Thakur, Tanya J.
United States, Rochester
Rochester Institute of Technology
Guindo, Aldiouma
Mali, Bamako
Centre de Recherche et de Lutte Contre la Drépanocytose Crld
Cullifer, Londyn R.
United States, Rochester
Rochester Institute of Technology
Li, Yi
China, Taiyuan
Shanxi University of Finance and Economics
Imumorin, Ikhide G.
United States, Ithaca
Cornell University College of Agriculture and Life Sciences
Diallo, Dapa Aly
Mali, Bamako
Centre de Recherche et de Lutte Contre la Drépanocytose Crld
Thomas, Bolaji Nun
United States, Rochester
Rochester Institute of Technology
Statistics
Citations: 25
Authors: 7
Affiliations: 4
Identifiers
Doi:
10.4137/GRSB.S14836
Research Areas
Genetics And Genomics
Study Locations
Mali