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Physiogenomic Analysis of the Puerto Rican Population

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An article coauthored by RCMI-funded investigators at the Medical Sciences Campus was recently published by the journal Pharmacogenomics. The paper, titled Physiogenomic Analysis of the Puerto Rican Population reports research aimed at determining the frequencies of single-nucleotide polymorphysyms in key physiological, pharmacological and biochemical genes to infer population structure and ancestry in the Puerto Rican population.

Genomic DNA samples from 100 newborns were obtained from the Puerto Rico Newborn Screening Program in dried-blood spot cards. Genotyping using a physiogenomic array was performed for 332 SNPs from 196 cardiometabolic and neuroendocrine genes. Population structure was examined using a Bayesian clustering approach as well as by allelic dissimilarity as a measure of allele sharing. The Puerto Rican sample was found to be broadly heterogeneous. We observed three main clusters in the population, which may reflect historical admixture in the Puerto Rican population from Amerindian, African and European ancestors. Evidence for this interpretation is presented by comparing allele frequencies for the three clusters with those for the same SNPs available from the International HapMap project for Asian, African and European populations.

The coauthors of this publication are Gualberto Ruaño, Andreas Windemuth, Mohan Kocherla, and David Villagra from Genomas, Inc; Jorge Duconge from the UPR Medical Sciences Campus School of Pharmacy; Carmen L Cadilla, Jessica Renta and Pedro J Santiago-Borrero from the UPR Medical Sciences Campus School of Medicine, and Theodore Holford, from Yale School of Medicine.

Citation:

Ruaño G, Duconge J, Windemuth A, Cadilla CL, Kocherla M, Villagra D, Renta J, Holford T, Santiago-Borrero PJ. Physiogenomic analysis of the Puerto Rican population. Pharmacogenomics. 2009 Apr;10(4):565-77.

The paper is available online at:

http://www.futuremedicine.com/doi/abs/10.2217/pgs.09.5

The project is supported by Grant Number G12RR03051(RCMI Program, University of Puerto Rico Medical Sciences Campus) from the National Center for Research Resources (NCRR), a component of the National Institutes of Health (NIH). Its contents are solely the responsibility of the authors and do not necessarily represent the official views of NCRR or NIH.