Masters Degrees (Genetics)

Permanent URI for this collection

http://hdl.handle.net/11660/423

Browse

Browsing Masters Degrees (Genetics) by Author "Bisiwe, Feziwe"

Now showing 1 - 1 of 1
  • Thumbnail Image
    ItemOpen Access
    Prevalence of š˜ˆš˜—š˜–š˜“1 risk variants in HIV-positive compared to HIV-negative individuals with evidence of kidney disease
    (University of the Free State, 2023) Notani, Madingaka Dorah; Marx, Gerda; Bisiwe, Feziwe
    š—•š—®š—°š—øš—“š—暝—¼š˜‚š—»š—±: Various types of kidney diseases, including HIV-associated nephropathy (HIVAN), focal segmental glomerulosclerosis (FSGS), chronic kidney disease (CKD), and end-stage renal disease (ESRD), have been associated to variants in the Apolipoprotein1 (š˜ˆš˜—š˜–š˜“1) gene. š˜ˆš˜—š˜–š˜“1 high risk (G1 and G2) variants are exclusively found in individuals of African ancestry, because of this, š˜ˆš˜—š˜–š˜“1 has been associated with kidney disease only in those with recent African ancestry. However, there is little data on the prevalence and implications of the š˜ˆš˜—š˜–š˜“1 variation in HIV-positive patients in the South African population. š—”š—¶š—ŗ: The aim was to determine whether the š˜ˆš˜—š˜–š˜“1 gene variants are present and whether genetic susceptibility along with HIV infection contributes to the development of kidney diseases, in a South African population, treated in Bloemfontein. š— š—²š˜š—µš—¼š—±š˜€: This was a case-control study that included two hundred and twenty (n=220) participants consisting of four groups, namely: HIV positive with kidney disease indicators (n=55); HIV positive without kidney disease (n=55); HIV negative with kidney disease indicators (n=55) and HIV negative without kidney disease (n=55). The participant samples were selected from archived material according to the inclusion and exclusion criteria. Genotyping analysis using qPCR was performed to detect the š˜ˆš˜—š˜–š˜“1 G1 and G2 variants. Sanger sequencing was used for confirmation. š—„š—²š˜€š˜‚š—¹š˜š˜€ š—®š—»š—± š——š—¶š˜€š—°š˜‚š˜€š˜€š—¶š—¼š—»: The frequencies of the š˜ˆš˜—š˜–š˜“1 high risk genotypes revealed that the G2 variant was more prevalent than G1 in the entire study population. The frequencies were 0.0045 for š˜ˆš˜—š˜–š˜“1 G1/G1, the 1000 Genome Africa found the frequency of 0.080. For G1/G2 (compound heterozygote) the frequency was 0.014. The frequency was higher for G2/G2 for this study (0.0455) compared to the 1000 genome Africa at 0.017. The prevalence of š˜ˆš˜—š˜–š˜“1 G2 was higher than G1; this does not collaborate with 1000 Genome project. The p-value for š˜ˆš˜—š˜–š˜“1 G2 was 0.752. There are no statistically significant associations found between the genotypes categorized by risk and either HIV or CKD. š—–š—¼š—»š—°š—¹š˜‚š˜€š—¶š—¼š—»: The study identified the presence of all the tested š˜ˆš˜—š˜–š˜“1 risk variants linked to chronic kidney disease (CKD) within a specific demographic (individuals of African descent in the South African population). The prevalence of the š˜ˆš˜—š˜–š˜“1 G2 variant was more than that of the š˜ˆš˜—š˜–š˜“1 G1 variant. This study did not discover any statistical significance linking š˜ˆš˜—š˜–š˜“1 high-risk genotypes with the occurrence of chronic kidney disease in either HIV-positive or negative individuals. Despite this, the established connection between these factors highlights the importance of screening patients who are of African ancestry, HIV-positive, and have CKD for potential personalized treatment options. Further studies with larger samples sizes and kidney biopsies are recommended to confirm whether variants of š˜ˆš˜—š˜–š˜“1 contribute to the development of kidney disease in HIV positive individuals.