Pharmacogenetics of healthy volunteers in Puerto Rico

Abstract

Puerto Ricans are a unique Hispanic population with European, Native American (Taino), and higher West African ancestral contributions than other non-Caribbean Hispanics. In admixed populations, such as Puerto Ricans, genetic variants can be found at different frequencies when compared to parental populations and uniquely combined and distributed. Therefore, in this review, we aimed to collect data from studies conducted in healthy Puerto Ricans and to report the frequencies of genetic polymorphisms with major relevance in drug response. Filtering for healthy volunteers or individuals, we performed a search of pharmacogenetic studies in academic literature databases without limiting the period of the results. The search was limited to Puerto Ricans living in the island, excluding those studies performed in mainland (United States). We found that the genetic markers impacting pharmacological therapy in the areas of cardiovascular, oncology, and neurology are the most frequently investigated. Coincidently, the top causes of mortality in the island are cardiovascular diseases, cancer, diabetes, Alzheimer's disease, and stroke. In addition, polymorphisms in genes that encode for members of the CYP450 family (CYP2C9, CYP2C19, and CYP2D6) are also available due to their relevance in the metabolism of drugs. The complex genetic background of Puerto Ricans is responsible for the divergence in the reported allele frequencies when compared to parental populations (Africans, East Asians, and Europeans). The importance of reporting the findings of pharmacogenetic studies conducted in Puerto Ricans is to identify genetic variants with potential utility among this genetically complex population and eventually move forward the adoption of personalized medicine in the island.

Conflict of interest statement

Authors have no relevant affiliation or financial involvement with any organization or entity with a financial interest in or conflicts of interest with the subject matter or materials discussed in the article that need to be disclosed.

Figures

Figure 1

Reported MAFs in Puerto Ricans, Hispanics, and parental populations (Africans, Europeans, and East Asians) for the most commonly studied genetic variants with pharmacogenetic relevance. Data obtained from the 1000 Genomes Project.

Figure 2

Pathway of MTHFR and methionine synthesis.

Figure 3

Mechanism of action of warfarin. From Whirl-Carrillo et al. [19]. Used with permission from PharmGKB and Stanford University.