Tounbakjy, Mhd Houssam Iyad
(2020)
Analysis of the association between APOA5
polymorphism and cholesterol lowering
effects among statin users with
hypercholesterolemia from HUSM,
Kelantan.
Masters thesis, Universiti Sains Malaysia.
Abstract
Statins, HMG-CoA reductase inhibitors, have shown their efficacy in reducing one of
the major risk factors for the disease i.e., the plasma cholesterol level. Patients’
responses to statin therapy have, however, been found to vary significantly. The
interindividual variation can be attributed to many demographic and clinical factors
including genetic factors. A single nucleotide polymorphism (SNP) in Apolipoprotein
A5 (ApoA5) gene, i.e.,rs662799, was reported to result in the cholesterol-lowering
effect of statins. No definitive conclusion has been drawn to date and no genetic
association study among the Malaysian population has been explored on the SNP in
determining statin’s cholesterol-lowering effect. Therefore, this study aims to
investigate the association of ApoA5 rs662799, along with other clinical factors, on
the efficacy of prescribed statins in lowering the plasma cholesterol level among
hyperlipidaemic patients at the Klinik Rawatan Keluarga, Hospital Universiti Sains
Malaysia, Kelantan. This is a non-interventional cross-sectional study involving 84
patients. Demographic and clinical data for patients have been collected from the
hospital’s computerized database and medical folders at the Unit Record. Polymerase
Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) was the
technique adopted for blood DNA genotyping in this study. Unprecedented damage
by the pandemic COVID-19 requires an unprecedented policy change including the
arrangement of this study because the genotyping method was not accomplished as
planned at the beginning of the study. Nevertheless, we consider the genotype
frequencies of the rs662799 SNP to have been compatible with other Asian
populations i.e., Minor Allele Frequency (MAF) value of 0.29 for East Asian
populations (https://asia.ensembl.org/index.html). Also, a significant difference was
expected in statin’s cholesterol-lowering effects due to the rs662799 SNP, with a
higher LDL-C reduction in TT-1131 genotype (the major allele) than the C-1131 allele
(the minor allele) carriers. The interpretation of the expected results needs further
investigation to validate the association of rs662799 SNP with respect to the
effectiveness of the statin.
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