B. Tech. (Department of Biotechnology, Faculty of Applied and Computer Sciences), Vaal University of Technology. / Background: In a group of the elderlies (older person) in Sharpeville, Gauteng, South Africa, the majority live in poverty with a poor nutritional status. This makes them susceptible to develop infectious diseases as well as the risk of Chronic Diseases of the Lifestyle (CDL) such as cancer, diabetes, heart attack, obesity and hypertension. One of the most constant features of aging is the progressively elevated levels of coagulation factors such as FVII, fibrinogen, and impairment of fibrinolysis might play a role in the ageing process. These are associated with increased susceptibility to Cardiovascular diseases (CVD) commonly found. An association between elevated levels of FVII and R353Q polymorphism has been established as a risk factor for CVD. This genetic polymorphism R353Q characterizes the substitution in the exon 8 of the FVII gene of guanine-to-adenine, which results in the replacement of arginine (R) by glutamine (Q) in codon 353 of the F7gene. Objectives: The aim of this study was to evaluate the prevalence of R353Q polymorphism in correlation with haemostatic markers within an urban elderly community in South Africa. Method: This study was ethically approved, and it is an experimental research design on the prevalence of R353Q polymorphism in correlation with homeostatic status (Factor VII, Fibrinogen and PAI-1). The study was done in a black elderly population living in the Vaal triangle region of Sharpeville, attending a day care center, who gave consent to participate in the study. A purposely selected sample of 102 subjects, who met the inclusion criteria were used. The homeostatic status was measured by factor VII and fibrinogen measuring coagulation and PAI-1 measuring fibrinolysis. Results: The prevalence of R353Q genetic polymorphism was established in 14.5% of the sampled population. The prevalence of the RQ (AG) genotype was determined in the sample population with 6.5 % of elevated factor VII levels, 7.8% of increased fibrinogen levels (coagulation) and 10.5 % of decreased levels of PAI-1. The R(A) allele, was detected in 1.3% of the sampled population of normal levels of FVII, fibrinogen and PAI-1. The dominant allele G(Q) was present in 76.3% of the sampled population. An imbalance haemostatic marker was established in the sampled population with 61% of elevated levels of factor VII, 70% of elevated levels of fibrinogen and 88% had a decreased level of PAI-1. Conclusion: The prevalence of R353Q polymorphism was established in this sample population, having an imbalanced haemostatic status of hypercoagulation (factor VII and fibrinogen) and imbalance fibrinolysis (PAI-1), which are strongly associated to CVDs.

M. Tech. (Department of Biotechnology, Faculty of Applied and Computer Sciences), Vaal University of Technology. / Background: Increased serum homocysteine is well known as an independent cardiovascular risk factor. Hyperhomocysteinemia may be due to several factors such as nutritional deficiencies and genetics. The MTHFR C677T polymorphism is associated with increased serum homocysteine. Folate and vitamin B12 play essential roles in lowering homocysteine levels. Limitations have been identified using serum vitamin B12 as a marker for vitamin B12 status due to lack an efficient of test. Holotranscobalamin has been reported as a more accurate marker for vitamin B12 status. Cardiovascular risk due to hyperhomocysteinemia has been confirmed among the elderly in Sharpeville. Knowledge of the prevalence of MTHFR C677T polymorphism among Black elderlies in South Africa is limited. Objectives: The main aim of the study was to evaluate the prevalence of MTHFR C677T polymorphism as a cardiovascular risk in an elderly black population in Sharpeville. Correlations between the presence of MTHFR C677T polymorphism and homocysteine metabolic markers were evaluated. Holotranscobalamin as a diagnostic test for vitamin B12 status was also assessed in this study. Materials and methods: This study was ethically approved by the Vaal University of Technology ethics committee (20140827-1ms). It was an observational, experimental study conducted in 102 elderly (≥60 years) attending the day-care centre in Sharpeville. Real-Time PCR was used to determine MTHFR genotypes. Folate and vitamin B12 were measured with AIA-PACK. Homocysteine levels were determined with an automated Konelab™ 20i and holotranscobalamin by ELISA. STATA 12 software was used for analysis of descriptive and inferential statistics. Results: The prevalence of MTHFR C677T polymorphism in this sample population was 19%. Heterozygous CT single nucleotide polymorphism was 17% and mutant homozygous TT was 2%. The majority (81%) of the subjects had wild type homozygous CC genotypes. No associations were found between MTHFR C677T genotypes and homocysteine and folate levels. Hyperhomocysteinemia was high (54%) and low (5%) folate deficiency found. No vitamin B12 deficiency was found however 7% were on the category of likely to be deficient. Sensitivity and specificity of holotranscobalamin were 100% and 95% respectively. Conclusion: The conclusions drawn from the study is that the prevalence of MTHFR C677T polymorphism is low within elderly in Sharpeville. There is a high risk of cardiovascular disease as a result of high prevalence of hyperhomocysteinemia. An intervention to lower homocysteine concentration of elderlies residing in Sharpeville is needed. Other genetic predisposing factors of increased homocysteine levels should be investigated.