Assessment of MTR Rs1805087 SNP as Possible Modifier ofSickle Cell Disease Severity in a Nigerian Population

BACKGROUND: Sickle cell disease is the commonest geneticdisorder in Nigeria, affecting 2­3% of an estimated population of 160million people. The role of genetic mutations in folate cycle genes,and the variable phenotypic expressions constituting disease severity,needs to be critically examined.OBJECTIVE: This study was carried out to establish the pattern ofmethionine synthase gene mutations (rs1805087 SNP), and its possibleassociation with disease severity in adults with sickle cell anaemia inLagos, Nigeria.METHODOLOGY: This is a cross-sectional study of seventy (70)subjects with sickle cell disease (HbSS) matched for age and genderwith known apparently healthy haemoglobin genotype AA (HbAA)subjects, as cases and controls respectively. Structured questionnaireswere used to obtain demographic, clinical and other phenotypic dataneeded to compute disease severity. Pattern of MTR A2756G genemutation and homocysteine assay (Hcy) were assessed by PolymeraseCh ain Reaction and Enzyme- linked Immun osorbent Assayrespectively. Full blood count analysis of participants was done usingthe KX-21 Automated Analyzer (Sysmex Corporation, Japan).RESULTS: The mutant genotypes MTR 2756 AG/GG were recordedin 46.4% (n =55) of subjects with disease severity score >7. Elevatedplasma homocysteine (HHcy) was significantly associated withdisease severity among HbSS subjects (OR=17.2, CI: 3.490-86.079;p=0.0001). Conversely, no significant association was observed withthe mutant genotypes MTR 2756 AG/GG and disease severity(p>0.05).CONCLUSION: While HHcy is significantly associated withphenotypic expression of HbSS, the MTR 2756 SNPs did not appearto independently influence homocysteine level or disease severity inHbSS subjects

Pattern of Demographic Risk Factors in the Seroprevalence of Anti-Toxoplasma Gondii Antibodies in HIV Infected Patients at the Lagos University Teaching Hospital

BACKGROUND:The Apicomplexan protozoan; Toxoplasma gondii; is a human parasite; with an ubiquitous distribution. Prevalence of the infection varies widely; depending on cultural; geographic and climatic factors. More often asymptomatic; T. gondii infection may be a severe and life-threatening disease. OBJECTIVES: This study was conducted to determine the seroprevalence of Toxoplasma gondii IgG antibody (TIgG) among HIV infected persons at the Lagos University Teaching Hospital PEPFAR site; and the demographic characteristics of the study group. METHODS: 460 plasma specimens were tested for TIgG antibodies by enzyme immuno assay technique and close ended questionnaires were applied on all respondents to obtain relevant data on demographics. Plasma was obtained from two study groups comprising of 380 HIV positive patients and 80 HIV negative adults who served as the control group. RESULTS: The overall seroprevalence was 30in the immunocompetent control group (37.5of the males tested and 16.7among the females). The over all seroprevalence of TIgG antibody among the HIV positive respondents was 54(206 Of 380). The study therefore showed statistically significant difference between the seroprevalence of TIgG antibody among the immunocompetent control group and HIV positive study group (p = 0.00356). Seroprevalence of TIgG antibody was lowest among the educated subjects (19of subjects with tertiary education). T. gondii antibody seroprevalence for males; married respondents and rural dwellers were 70.4; 72.3and 69respectively; and were all statistically significant at p 0.000. Moreso; a significant association was observed between the seroprevalence of anti toxoplasma gondii IgG antibody and the consumption of beef among the study groups.(P 0.0001). CONCLUSION: Socio-cultural and nutritional habits;contribute significantly to the prevalence of Toxoplasmosis and thus any effective control must be centred around these issues