The aim of the present study was to investigate the association of APOE, MTHFR and ACE polymorphisms with stroke in the Zambian population. We analyzed 41 stroke patients and 116 control subjects all of Zambian origin for associations between the genotype of the APOE, MTHFR and ACE polymorphisms and stroke. The APOE ε2ε4 genotype showed increased risk for hemorrhagic stroke (P<0.05) and also a high risk for ischemic stroke (P=0.05). There was complete absence of the APOE ε2ε2 and the MTHFR TT genotypes in the Zambian population. The difference between cases and controls was not significant for the other genetic variants when analyzed for relationship between stroke, stroke subtype and genotype. We show that genetic variation at the APOE locus affects susceptibility to stroke. No detectable association were observed for the MTHFR and ACE genotypes and stroke in the Zambian population.
BackgroundPolymorphisms within the apolipoprotein-E (APOE), Methylenetetrahydrofolate reductase (MTHFR) and Angiotensin I-converting enzyme (ACE) genes has been associated with cardiovascular and cerebrovascular disorders, Alzheimer’s disease and other complex diseases in various populations. The aim of the study was to analyze the allelic and genotypic frequencies of APOE, MTHFR C677T and ACE I/D gene polymorphisms in the Zambian population.ResultsThe allele frequencies of APOE polymorphism in the Zambian populations were 13.8%, 59.5% and 26.7% for the ε2, ε3 and ε4 alleles respectively. MTHFR C677T and ACE I/D allele frequencies were 8.6% and 13.8% for the T and D minor alleles respectively. The ε2ε2 genotype and TT genotype were absent in the Zambian population. The genetic distances between Zambian and other African and non-African major populations revealed an independent variability of these polymorphisms.ConclusionWe found that the APOE ε3 allele and the I allele of the ACE were significantly high in our study population while there were low frequencies observed for the MTHFR 677 T and ACE D alleles. Our analysis of the APOE, MTHFR and ACE polymorphisms may provide valuable insight into the understanding of the disease risk in the Zambian population.
Bckground: Myositis has been reported to be associated or triggered by viruses. Genetic and environmental factors are documented risk for myopathies. Viruses have also been shown to modify the clinical course of auto-immune diseases.We therefore report a case of SARS-Cov-2 infection in a 26-year-old female black Zambian patient with proximal myopathy.
Case Presentation: We present the case of a 26-yearold chemical factory worker with severe acuterespiratory distress syndrome corona virus 2 (SARS-cov-2) infection and proximal myopathy. She presented to a local private hospital with fever, weakness and flu-like symptoms after being exposed to a colleague diagnosed with SARS-cov-2 infection at the time Zambia declared the July 2021 third wave of SARS-cov-2pandemic. She also reported difficulties in climbing stairs, had Raynaud's phenomenon, proximal myopathy, classic dermatomyositis features, symptoms ofsystemic sclerosis, raisedcreatine phosphokinase (CPK), and a positive nasopharyngeal PCR test for SARS-Cov-2 infection.
Conclusions: We presented, for the first time in Zambia, the case of a patient with SARS-Cov-2 infection and severe proximal myopathy secondary to newly diagnosed dermatomyositis and overlap systemic sclerosis. The myopathy appeared to have been worsened by SARS-Cov-2 viral infection.
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