Browsing by Author "Thomford, N.E."
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Item APOL1 genotype associated risk for preeclampsia in African populations: Rationale and protocol design for studies in women of African ancestry in resource limited settings(PLOS ONE, 2022) Osafo, C.; Thomford, N.E.; Coleman, J.; Carboo, A.; Guure, C.; Okyere, P.; Adu, D.; Adanu, R.; Parekh, R.S.; Burke, D.Background Women of African ancestry are highly predisposed to preeclampsia which continues to be a major cause of maternal death in Africa. Common variants in the APOL1 gene are potent risk factor for a spectrum of kidney disease. Recent studies have shown that APOL1 risk variants contribute to the risk of preeclampsia. The aim of the study is to understand the con tribution of APOL1 risk variants to the development of preeclampsia in pregnant women in Ghana. Methods The study is a case-control design which started recruitment in 2019 at the Korle Bu Teaching Hospital in Ghana. The study will recruit pregnant women with a target recruitment of 700 cases of preeclampsia and 700 normotensives. Clinical and demographic data of mother- baby dyad, with biospecimens including cord blood and placenta will be collected to assess clinical, biochemical and genetic markers of preeclampsia. The study protocol was approved by Korle Bu Teaching Hospital Institutional Review Board (Reference number: KBTH-IRB/000108/2018) on October 11, 2018. Preliminary results As of December 2021, a total of 773 mother-baby pairs had been recruited and majority of them had complete entry of data for analysis. The participants are made up of 384 pre eclampsia cases and 389 normotensive mother-baby dyad. The mean age of participants is 30.69 ± 0.32 years for cases and 29.95 ± 0.32 for controls. Majority (85%) of the participants are between 20-30years. At booking, majority of cases had normal blood pressure com pared to the time of diagnosis where 85% had a systolic BP greater than 140mmHg and a corresponding 82% had diastolic pressure greater than 90mmHg. Conclusion Our study will ultimately provide clinical, biochemical and genotypic data for risk stratification of preeclampsia and careful monitoring during pregnancy to improve clinical management and outcomes.Item Apolipoprotein E genetic variation, atherogenic index and cardiovascular disease risk assessment in an African population: An analysis of HIV and malaria patients in Ghana(PLOS ONE, 2023) Thomford, N.E.; Anyanful, A.; Ateko, R.O.; et al.Background Apolipoprotein E is involved in lipid transport and clearance of lipoprotein through low-density lipoprotein receptors (LDLR). ApoE variation has been linked to cardiovascular disease (CVD) risk. There are 3 isoforms of ApoE which originate from two non-synonymous single nucleotide polymorphisms denoted as ε2, ε3 and ε4. The ε2 isoform is implicated in higher levels of atherogenic lipoprotein with the ε4 isoform causing LDLR downregulation. This leads to variable effects and differential CVD risk. Malaria and HIV are life-threatening diseases affecting several countries globally especially in sub-Saharan Africa. Parasite and viral activities have been implicated in lipid dysregulation leading to dyslipidaemia. This study examined ApoE variation and CVD risk assessment in malaria and HIV patients. Methods We compared 76 malaria-only, 33 malaria-HIV coinfected, 21-HIV-only and 31 controls from a tertiary health facility in Ghana. Fasting venous blood samples were taken for ApoE genotyping and lipid measurements. Clinical and laboratory data were collected with ApoE genotyping performed using Iplex Gold microarray and PCR-RFLP. Cardiovascular disease risk was calculated using the Framingham BMI and cholesterol risk and Qrisk3 tools. Results The frequency of C/C genotype for rs429358 was 9.32%, whiles T/T genotype for rs7412 was found in 2.48% of all participants. ε3/ε3 was the most distributed ApoE genotype accounting for 51.55% of the total participants whiles ε2/ε2 was found in 2.48% of partici pants, with 1 in malaria-only and 3 in HIV-only patients. There was a significant association between ε4+ and high TG (OR = 0.20, CI; 0.05–0.73; p = 0.015), whiles ε2+ was significantly associated with higher BMI (OR; 0.24, CI; 0.06–0.87; p = 0.030) and higher Castelli Risk Index II in females (OR = 11.26, CI; 1.37–92.30; p = 0.024). A higher proportion of malaria only participants had a moderate to high 10-year CVD risk. Conclusion Overall malaria patients seem to have a higher CVD risk though the means through which this occurs may be poorly understood. ε2/ε2 genotypes was observed in our population at a lower frequency. Further studies are vital to determine CVD risk in malaria and how this occurs.Item Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa(Mary Ann Liebert Inc, 2018-05) Thomford, N.E.; Dzobo, K.; Yao, N.A.; Chimusa, E.; Evans, J.; Okai, E.; Kruszka, P.; Muenke, M.; Awandare, G.; Wonkam, A.; Dandara, C.Congenital heart defects (CHD) are structural malformations found at birth with a prevalence of 1%. The clinical trajectory of CHD is highly variable and thus in need of robust diagnostics and therapeutics. Major surgical interventions are often required for most CHDs. In Africa, despite advances in life sciences infrastructure and improving education of medical scholars, the limited clinical data suggest that CHD detection and correction are still not at par with the rest of the world. But the toll and genetics of CHDs in Africa has seldom been systematically investigated. We present an expert review on CHD with lessons learned on Africa. We found variable CHD phenotype prevalence in Africa across countries and populations. There are important gaps and paucity in genomic studies of CHD in African populations. Among the available genomic studies, the key findings in Africa were variants in GATA4 (P193H), MTHFR 677TT, and MTHFR 1298CC that were associated with atrial septal defect, ventricular septal defect (VSD), Tetralogy of Fallot (TOF), and patent ductus arteriosus phenotypes and 22q.11 deletion, which is associated with TOF. There were no data on epigenomic association of CHD in Africa, however, other studies have shown an altered expression of miR-421 and miR-1233-3p to be associated with TOF and hypermethylation of CpG islands in the promoter of SCO2 gene also been associated with TOF and VSD in children with non-syndromic CHD. These findings signal the urgent need to develop and implement genetic and genomic research on CHD to identify the hereditary and genome-environment interactions contributing to CHD. These projected studies would also offer comparisons on CHD pathophysiology between African and other populations worldwide. Genomic research on CHD in Africa should be developed in parallel with next generation technology policy research and responsible innovation frameworks that examine the social and political factors that shape the emergence and societal embedding of new technologies. © 2018, Mary Ann Liebert, Inc.Item Psychometric assessment of HIV stigma in patients attending a tertiary facility: An initial validation of the Berger HIV stigma scale in a Ghanaian perspective(PLOS ONE, 2023) Thomford, N.E.; Dampson, F.N.; Kyei, G.B.Background HIV-related stigma and discrimination are major challenges to people living with HIV (PLWHIV) and are due to misconceptions. Due to socioeconomic variations, there is increased stigma experienced by PLWHIV in sub-Saharan Africa (SSA). Stigma affects adherence to antiretroviral medications by PLWHIV and defeats the goal of achieving viral suppression. This study evaluated the Bergers HIV stigma scale in PLWHIV in Ghana regarding construct validity and reliability and assessed which aspect of stigma is critical for immediate redress. Methods The Berger et al. HIV stigma scale (39 items) and some selected questions from HIV stigma and discrimination measurement tool of the International Centre for Research on Women, Washington, DC were administered to a cohort of PLWHIV in Ghana (n = 160). Clinicodemographic data was collected from their folders and verbally. The psychometric assessment included exploratory factor analysis whiles scale reliability was evaluated as internal consistency by calculating Cronbach’s α. Results The exploratory factor analysis suggested a four-factor solution which is like the original Ber ger HIV scale with sub-scales personalised stigma, disclosure concerns, negative selfimage, and concerns with public attitudes. Items in the sub-scales personalised stigma (15-items), disclosure concerns (6), negative self-image (7) and concerns with public attitudes (6) were reduced compared to the original scale. Cronbach’s α for the overall HIV stigma scale (34-items) was 0.808 whiles the sub-scales α ranged from 0.77 to 0.89. Analysis sug gested the prevalence of a fundamental one-dimensional factor solution which yielded a 34- item scale after removing items for low factor loadings. Disclosure concerns was the highest ranked subscale although our study also found that about 65% of PLWHIV among our study participants had disclosed their status. Conclusion Our 34-item abridged Berger HIV stigma scale showed sufficient reliability with high Cron bach’s α and construct validity. Disclosure concerns ranked high among the sub-scales on the scale. Exploring specific interventions and strategies to address stigma concerns in our population will aid in the reduction of HIV-related stigma and associated consequences.