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Abstract
Background: Inter-individual variation in response to statins (efficacy and toxicity) has been described and may be due to polymorphisms implicated in drug pharmacokinetics or pharmacodynamics.
Aim: This study investigates clinically relevant pharmacogenes underlying statin response in 170 healthy Azoreans.
Methods: Eight SNPs in candidate genes—HMGCR (rs3846662, rs17238540, rs17244841), CETP (rs708272), APOE (rs7412, rs429358) and SLCO1B1 (rs2306283, rs4149056)—were genotyped.
Results: The allele frequencies were similar to those reported for European derived populations, excepting SLCO1B1 c.388A>G (rs2306283), which has a significant difference when compared with the HapMap CEU population (p = 1 × 10−8). The results of statin efficacy showed that 9.1% of Azoreans are APOE4 carriers. This allele has been associated with lower LDLc reduction from statin therapy and also higher LDLc levels at baseline. Regarding SLCO1B1, associated with statin toxicity, 1.8% of individuals have two reduced-function alleles (c.521CC).
Conclusion: The results contribute to overcome the lack of knowledge regarding the frequency of pharmacogenetic SNPs and their corresponding haplotypes in targeted populations, such as Azores islands. Moreover, the present work constitutes an initial step to implementing pharmacogenomics in clinical practice where physicians could use a patient’s genetic make-up to optimize statin therapy, regarding efficiency and myopathy risk.
Acknowledgements
This work was supported by grants from the ‘Direção Regional da Ciência, Tecnologia e Comunicações (DRCTC)’ of the Government of the Azores. The authors wish to thank Dr Renato Pires for useful comments on the article. LB received a fellowship from ‘Estagiar U’ program from the Government of Azores.
MSM and LB genotyped the variants, performed statistical analysis and drafted the manuscript. CCB did the validation of genotyping assays and participated in statistical analysis. LMV designed the study, provided scientific orientation and revised the manuscript. All authors read and approved the final manuscript.
Declaration of interest
The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.