2 research outputs found
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Evidence for immune activation in pathogenesis of the HLA class II associated disease, podoconiosis
Available evidences suggest that podoconiosis is triggered by long term exposure of bare feet to volcanic red clay soil particles. Previous genome-wide studies in Ethiopia showed association between the HLA class II region and disease susceptibility. However, functional relationships between the soil trigger, immunogenetic risk factors and the immunological basis of the disease are uncharted. Therefore, we aimed to characterise the immune profile and gene expression of podoconiosis patients relative to endemic healthy controls. Peripheral blood immunophenotyping of T cells indicated podoconiosis patients had significantly higher CD4 and CD8 T cell surface HLA-DR expression compared to healthy controls while CD62L expression was significantly lower. The levels of the activation markers CD40 and CD86 were significantly higher on monocytes and dendritic cell subsets in patients compared to the controls. RNA sequencing gene expression data indicated higher transcript levels for activation, scavenger receptors, and apoptosis markers while levels were lower for histones, T cell receptors, variable, and constant immunoglobulin chain in podoconiosis patients compared to healthy controls. Our finding provides evidence that podoconiosis is associated with high levels of immune activation and inflammation with over-expression of genes within the pro-inflammatory axis. This offers further support to a working hypothesis of podoconiosis as soil particle-driven, HLA-associated disease of immunopathogenic aetiology.</p
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Genomics research in Africa: implications for disease diagnosis, treatment and drug development: proceedings of the 5th annual meeting of the African Society of Human Genetics
This paper presents the proceedings of the 5th Annual Meeting of the African Society of Human Genetics, which took place in Cairo, Egypt, on 3rd-5th November 2007. The meeting provided a much needed forum for the development of research networks and collaborations for all who are interested in the field of ‘genetics in Africa’ in its broadest sense. The meeting also presented an opportunity for the Society to debate the major issues in the field and to develop a long term strategy towards achieving the goals of the Society. The most exciting and ambitious outcome of the meeting was the launch of the African Genome Project. The meeting was held in conjunction with the First Annual Meeting of the Division of Human Genetics and Genome Research and the National Society of Human Genetics of Egypt. The conference theme was ‘Genomics Research in Africa: Implications for Disease Diagnosis, Treatment and Drug Development’. Over 200 participants (including clinicians, geneticists, statisticians, bioinformaticians and social scientists) attended from 28 countries, 16 of which are in Africa