Abstract

1. 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.

2. 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.

3. 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.

4. These findings will facilitate a more personalized approach to statin therapy, especially relevant within the diverse South African population.

摘要

1. 他汀类药物是治疗高胆固醇血症的标准药物，是处方最广泛的药物之一，但与副作用有关，包括他汀类药物不耐受。本研究的目的是确定随机选择的样本中 SLCO1B1 SNV 的背景流行率，并调查 SLCO1B1 SNV 与接受他汀类药物治疗的高胆固醇血症患者之间是否存在关联。

2. 使用聚合酶链反应 - 限制性片段长度多态性，鉴定了 SLCO1B1 SNV（rs4149056、rs2306283 和 rs4363657）的存在，而 ELISA 用于量化血清 CK 水平。使用定量问卷计算他汀类药物不耐受风险。

3. 他汀治疗组发生他汀不耐受的风险低（36%）、中（49%）或高（15%）。rs4149056 变异的患病率在（对照组）和（他汀类药物）组中分别为 16% 和 20%；rs2306283 变异存在于 31.5%（对照组），10.5%（他汀类药物）组；而 rs4363657 变体的流行率在每个中相似。未发现任何一种 SNV 的存在与他汀类药物不耐受严重程度风险评分或 CK 升高之间存在关联。

4. 这些发现将有助于采用更加个性化的他汀类药物治疗方法，尤其是在多样化的南非人群中。