|dc.contributor.author||Towers, Gordon Wayne||
|dc.description||Thesis (Ph.D. (Biochemistry))--North-West University, Potchefstroom Campus, 2005.||
|dc.description.abstract||Type 2 diabetes mellitus (T2D) is currently one of the fastest growing non-communicable
diseases in the world. It is induced by the pathogenic interaction between insulin
resistance and secretion. There are numerous forms of these disorders which are
characterised by hyperglycaemia and affect approximately 4% of the general population.
This percentage is however rapidly increasing especially in developing regions such as
sub-Saharan Africa and Latin America.
During this investigation two diabetic cohorts and two control cohorts consisting of adult
black Southern African and Cuban individuals respectively, were screened for reported
single nucleotide polymorphisms (SNPs) within the adiponectin and calpain 10 genes.
Genotyping was achieved via a real time PCR strategy. Frequency differences between
the various genetic configurations of the two cohorts were calculated utilising appropriate
With regards to the black Southern African cohort, it was determined that certain factors in
the calpain 10 gene, e.g. the wild type homozygote at UCSNP-56, were associated with
protection towards T2D. Investigation of the Cuban cohort alternatively resulted in the
elucidation that this group presents with a differential risk pattern than that of the reported
Analysis of the adiponectin gene resulted in the determination that within the South African
cohort, the G-11391A locus and the 11/12 haplotype combination were associated with
protection towards T2D. The variant allele homozygote at the C-11377G locus was
associated with increased disease risk within the Cuban cohort investigated. The
associations detected in the aforementioned genes were not maintained upon
When compared to various non-African populations, the investigated SNPs have
population specific effects in T2D susceptibility depending on the population investigated.
This is most likely due to certain epistatic factors, determination of which will be integral to
future investigations of T2D. Data from this investigation indicates that the elucidation and
implementation of prevention strategies should be population specific.||
|dc.title||The relevance of population specific standardisation in the analysis of specific type 2 diabetes mellitus genetic susceptibility loci||en