Prevalence of SLCO1B1 single nucleotide variations and their association with hypercholesterolaemia in hypercholesterolemic patients in Gauteng, South Africa.

Statins, the standard treatment for hypercholesterolaemia, among the most widely prescribed, have been associated with side effects, including statin intolerance. The aim of this study was to determine the background prevalence of SLCO1B1 SNVs in a randomly selected sample and to investigate if there are associations between SLCO1B1 SNVs and hypercholesterolaemia patients on statin therapy.Using Polymerase Chain Reaction - Restriction Fragment Length Polymorphism, the presence of SLCO1B1 SNVs (rs4149056, rs2306283 and rs4363657) was identified, while ELISA was used to quantify serum CK levels. Statin intolerance risk was calculated using a quantitative questionnaire.The risk of developing statin intolerance was found to be low (in 36%), moderate (in 49%), or high (in 15%) in the statin-treated group. The prevalence of the rs4149056 variant was 16% in (controls) and 20% in (statin) group; rs2306283 variant was present in 31.5% (controls), 10.5% in (statin) group; while the prevalence of the rs4363657 variant was similar in each. No association between the presence of any one of the SNVs and the statin intolerance severity risk score or CK elevation was found.These findings will facilitate a more personalized approach to statin therapy, especially relevant within the diverse South African population.