Association between eNOS Gene Polymorphism (T786C and VNTR) and Sickle Cell Disease Patients in Ghana
Charles Antwi-Boasiako,
Bartholomew Dzudzor,
William Kudzi,
Alfred Doku,
Campbell Andrew Dale,
Fredericka Sey,
Kate Hgar Otu,
Gifty Dankwah Boatemaa,
Ivy Ekem,
John Ahenkorah,
Daniel Gyingiri Achel,
Elvis Twumasi Aboagye,
Eric S. Donkor
Affiliations
Charles Antwi-Boasiako
Department of Physiology, School of Biomedical and Allied Health Sciences, University of Ghana, Accra +233, Ghana
Bartholomew Dzudzor
Department of Medical Biochemistry, School of Biomedical and Allied Health Sciences, University of Ghana, Accra +233, Ghana
William Kudzi
Centre for Tropical Clinical Pharmacology and Therapeutics School of Biomedical and Allied Health Sciences, University of Ghana, Accra +233, Ghana
Alfred Doku
Department of Internal Medicine, School of Medicine and Dentistry, University of Ghana, Accra +233, Ghana
Campbell Andrew Dale
Center for Cancer and Blood Disorders Children’s National Medical Center George Washington University School of Medicine and Health Sciences, Washington, DC 20052, USA
Fredericka Sey
Center for Clinical Genetics, Korle-Bu Teaching Hospital, Accra +233, Ghana
Kate Hgar Otu
Department of Nursing and Midwifery, Greenhills School of Health Sciences, Accra +233, Ghana
Gifty Dankwah Boatemaa
Department of Physiology, School of Biomedical and Allied Health Sciences, University of Ghana, Accra +233, Ghana
Ivy Ekem
Department of Haematology, School of Medical Sciences, College of Health and Allied Sciences, University of Cape Coast, Cape Coast +233, Ghana
John Ahenkorah
Department of Anatomy, School of Biomedical and Allied Health Sciences, University of Ghana, Accra +233, Ghana
Daniel Gyingiri Achel
Applied Radiation Biology Center, Radiological and Medical Sciences Research, Ghana Atomic Energy Commission, Accra +233, Ghana
Elvis Twumasi Aboagye
Centre for Tropical Clinical Pharmacology and Therapeutics School of Biomedical and Allied Health Sciences, University of Ghana, Accra +233, Ghana
Eric S. Donkor
Department of Medical Microbiology, School of Biomedical and Allied Health Sciences, University of Ghana, Accra +233, Ghana
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.
