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Association between eNOS Gene Polymorphism (T786C and VNTR) and Sickle Cell Disease Patients in Ghana

1
Department of Physiology, School of Biomedical and Allied Health Sciences, University of Ghana, Accra +233, Ghana
2
Department of Medical Biochemistry, School of Biomedical and Allied Health Sciences, University of Ghana, Accra +233, Ghana
3
Centre for Tropical Clinical Pharmacology and Therapeutics School of Biomedical and Allied Health Sciences, University of Ghana, Accra +233, Ghana
4
Department of Internal Medicine, School of Medicine and Dentistry, University of Ghana, Accra +233, Ghana
5
Center for Cancer and Blood Disorders Children’s National Medical Center George Washington University School of Medicine and Health Sciences, Washington, DC 20052, USA
6
Center for Clinical Genetics, Korle-Bu Teaching Hospital, Accra +233, Ghana
7
Department of Nursing and Midwifery, Greenhills School of Health Sciences, Accra +233, Ghana
8
Department of Haematology, School of Medical Sciences, College of Health and Allied Sciences, University of Cape Coast, Cape Coast +233, Ghana
9
Department of Anatomy, School of Biomedical and Allied Health Sciences, University of Ghana, Accra +233, Ghana
10
Applied Radiation Biology Center, Radiological and Medical Sciences Research, Ghana Atomic Energy Commission, Accra +233, Ghana
11
Department of Medical Microbiology, School of Biomedical and Allied Health Sciences, University of Ghana, Accra +233, Ghana
*
Author to whom correspondence should be addressed.
Diseases 2018, 6(4), 90; https://doi.org/10.3390/diseases6040090
Received: 5 September 2018 / Revised: 21 September 2018 / Accepted: 27 September 2018 / Published: 29 September 2018
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PDF [221 KB, uploaded 29 September 2018]

Abstract

Endothelial nitric oxide synthase (eNOS) variants have been found to be associated with several vascular disorders as well as the pathogenesis of sickle cell disease (SCD) complications such as vaso-occlusive crises (VOC). Studies on eNOS gene variants among SCD patients are rare in Ghana and several other African countries. The current study aimed to determine a possible association between variants of the eNOS gene (variable number of tandem repeats in intron 4 and T786C) in SCD complications among Ghanaian patients. This was a cross-sectional study involving 89 HbSS patients with complications and 46 HbSS patients without complications. Genomic DNA was extracted from leukocytes in the buffy coat and separated from collected whole blood samples of the study participants. PCR amplification, followed by restriction fragment length polymorphism (RFLP) was used to genotype T786C (rs2070744) variants. Variable number of tandem repeats (VNTR) in intron 4 was genotyped by PCR and direct electrophoresis. There was a significant difference in the genotype frequency of the T786C variant between HbSS patients with complications and those without complications (p = 0.0165). However, there was no significant difference in the VNTR intron 4 variant of the eNOS gene between patients with complications and those without complications (p > 0.05). The study shows an association between the eNOS gene variant (T786C) and complications in SCD. View Full-Text
Keywords: eNOS; variants; sickle cell disease complications; allele; genotype eNOS; variants; sickle cell disease complications; allele; genotype
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).
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Antwi-Boasiako, C.; Dzudzor, B.; Kudzi, W.; Doku, A.; Dale, C.A.; Sey, F.; Otu, K.H.; Boatemaa, G.D.; Ekem, I.; Ahenkorah, J.; Achel, D.G.; Aboagye, E.T.; Donkor, E.S. Association between eNOS Gene Polymorphism (T786C and VNTR) and Sickle Cell Disease Patients in Ghana. Diseases 2018, 6, 90.

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