Polymorphism rs3737787 of Upstream Stimulatory Factor 1 gene is associated with serum lipid phenotype in Nigerian population

Onadeko, Oluwadamilola T.; Okunowo, Wahab Oluwanisola; Imaga, Ngozi Awa; Abdulrazaq, Muhammed M.; Onuminya, Onuminya J.; Van-lare, Temitope Olukemi; Nwosu, Micheal

doi:10.1016/j.mcp.2020.101687

Cited by 1 publication

(1 citation statement)

References 25 publications

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“…Many African populations remain underrepresented and the data that is available for Africa is not structured in a manner appropriate for the geographical, social and cultural diversity of the continent, with data generally being classified under Sub-Saharan Africa, with little reference to specific populations, or misclassified with other regional groups, as previously described [2,3]. Recent advances in genomics have illustrated the rich genetic diversity of African populations [4,5] and its associated health implications, such as varying lipid profiles [6], predisposition to kidney disease [7] and more [8]. Similar diversity has been observed in pharmacogenomics studies, where, for example, population-specific alleles and frequencies have been found in the genes encoding the cytochrome P450 (CYP) enzymes in Africans, together with structural variants that impact enzymes functionality [9][10][11].…”

Section: Introductionmentioning

confidence: 99%

African Genomic Medicine Portal: A Web Portal for Biomedical Applications

Othman

Zass

Rocha

et al. 2022

JPM

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Genomics data are currently being produced at unprecedented rates, resulting in increased knowledge discovery and submission to public data repositories. Despite these advances, genomic information on African-ancestry populations remains significantly low compared with European- and Asian-ancestry populations. This information is typically segmented across several different biomedical data repositories, which often lack sufficient fine-grained structure and annotation to account for the diversity of African populations, leading to many challenges related to the retrieval, representation and findability of such information. To overcome these challenges, we developed the African Genomic Medicine Portal (AGMP), a database that contains metadata on genomic medicine studies conducted on African-ancestry populations. The metadata is curated from two public databases related to genomic medicine, PharmGKB and DisGeNET. The metadata retrieved from these source databases were limited to genomic variants that were associated with disease aetiology or treatment in the context of African-ancestry populations. Over 2000 variants relevant to populations of African ancestry were retrieved. Subsequently, domain experts curated and annotated additional information associated with the studies that reported the variants, including geographical origin, ethnolinguistic group, level of association significance and other relevant study information, such as study design and sample size, where available. The AGMP functions as a dedicated resource through which to access African-specific information on genomics as applied to health research, through querying variants, genes, diseases and drugs. The portal and its corresponding technical documentation, implementation code and content are publicly available.

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