How Does Mother-to-Child Transmission of HIV Differ Among African Populations? Lessons fromMBL2Genetic Variation in Zimbabweans

Abstract

Mannose binding lectin (MBL) is a pathogen pattern recognition protein involved in antimicrobial activities. Variation in MBL2 gene has been extensively implicated in differential outcomes of infectious diseases in studies conducted outside Africa, but virtually very little is known on the role of this candidate gene in the African continent. We investigated human genetic variations in MBL2 in a Zimbabwean pediatric population and their putative associations with HIV infection in perinatally exposed children. One hundred and four children aged 7 to 9 years comprising 68 perinatally exposed to HIV (32 who were born infected and 36 who were uninfected) and 36 unexposed controls were recruited. DNA samples were genotyped for MBL2 polymorphisms using PCR-RFLP and sequencing. HIV infected children had markedly variable and significantly lower mean height ( p = 0.03) and weight ( p = 0.005) when compared to the uninfected children. Using all samples, frequencies for MBL2 genetic variants for the Zimbabwean population were calculated. Twelve single nucleotide polymorphisms were observed and minor alleles occurred with the following frequencies: -550C

Common Variants Associated with Type 2 Diabetes in a Black South African Population of Setswana Descent: African Populations Diverge

“…According to the findings of this study, it is highly probable that the black South African population share very few common variants associated with T2D with other ethnic groups. This study supports what has been reported in a number of local genetics studies in Southern Africa, namely that the genetic background of black South Africans is diverse and cannot be extrapolated using genetic variants from other ethnicities (Bosch et al 2014;Dandara et al 2014;May et al, 2013;Mhandire et al, 2014). Therefore the results of this study highlight the need for population-specific variants to evaluate T2D genetic susceptibility in the black South African population.…”

Role of Mannose-Binding Lectin Deficiency in HIV-1 and Schistosoma Infections in a Rural Adult Population in Zimbabwe

“…Sub-Saharan Africa has a high burden of viral [ 26 – 28 ], bacterial [ 27 – 29 ] and parasitic infections [ 12 , 13 , 27 ]. Assessment of polymorphisms in the MBL2 gene and promoter region to determine functional MBL deficiency has been carried out in different populations with few studies in Sub-Saharan Africa [ 17 , 30 , 31 ]. Schistosomes carry sugar molecules or glycoconjugates on the surface of all their developmental stages [ 32 , 33 ] and these glycoconjugates interact with innate immune recognition molecules including MBL [ 34 – 36 ].…”

Evaluating the contribution of APOBEC3G haplotypes, on influencing HIV infection in a Zimbabwean paediatric population

“…However, their collective contribution to gene expression or overall protein structure may be important, as we have shown with other genes. [10,[13][14][15] In an effort to understand the combinational effect of APOBEC3G polymorphism on HIV transmission haplotype, frequencies were compared between HIV-infected and uninfected groups of children. LD was generally strong between pairs of the APOBEC3G SNPs studied in the population.…”

“…Participants were recruited from the Better Health for the African Mother and Child (BHAMC) cohort, a longitudinal study of mother-child pairs followed up between 2002 and 2012, as described elsewhere. [10] In summary, the participants were 104 unrelated children aged 7 to 9 years, of bantu African origin. These included 32 children perinatally infected with HIV (EI) who were available in the cohort at the time of collection, and 72 healthy HIV-uninfected children comprising 36 exposed to HIV in utero but not infected (EU) and 36 unexposed and uninfected (UEUI).…”

“…Demographic characteristics of participants are described elsewhere [10] and are summarised in Table 1. Haplotype frequencies were compared between the HIV-infected children and HIV-uninfected.…”