Disparities in Allele Frequencies and Population Differentiation for 101 Disease-Associated Single Nucleotide Polymorphisms Between Puerto Ricans and Non-Hispanic Whites


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dc.contributor.author Mattei, Josiemer en_US
dc.contributor.author Parnell, Laurence D en_US
dc.contributor.author Lai, Chao-Qiang en_US
dc.contributor.author Garcia-Bailo, Bibiana en_US
dc.contributor.author Adiconis, Xian en_US
dc.contributor.author Shen, Jian en_US
dc.contributor.author Arnett, Donna en_US
dc.contributor.author Demissie, Serkalem en_US
dc.contributor.author Tucker, Katherine L en_US
dc.contributor.author Ordovas, Jose M en_US
dc.date.accessioned 2012-01-11T15:51:11Z
dc.date.available 2012-01-11T15:51:11Z
dc.date.copyright 2009 en_US
dc.date.issued 2009-8-14 en_US
dc.identifier.citation Mattei, Josiemer, Laurence D Parnell, Chao-Qiang Lai, Bibiana Garcia-Bailo, Xian Adiconis, Jian Shen, Donna Arnett, Serkalem Demissie, Katherine L Tucker, Jose M Ordovas. "Disparities in allele frequencies and population differentiation for 101 disease-associated single nucleotide polymorphisms between Puerto Ricans and non-Hispanic whites" BMC Genetics 10:45. (2009) en_US
dc.identifier.issn 1471-2156 en_US
dc.identifier.uri http://hdl.handle.net/2144/3069
dc.description.abstract BACKGROUND. Variations in gene allele frequencies can contribute to differences in the prevalence of some common complex diseases among populations. Natural selection modulates the balance in allele frequencies across populations. Population differentiation (FST) can evidence environmental selection pressures. Such genetic information is limited in Puerto Ricans, the second largest Hispanic ethnic group in the US, and a group with high prevalence of chronic disease. We determined allele frequencies and population differentiation for 101 single nucleotide polymorphisms (SNPs) in 30 genes involved in major metabolic and disease-relevant pathways in Puerto Ricans (n = 969, ages 45–75 years) and compared them to similarly aged non-Hispanic whites (NHW) (n = 597). RESULTS. Minor allele frequency (MAF) distributions for 45.5% of the SNPs assessed in Puerto Ricans were significantly different from those of NHW. Puerto Ricans carried risk alleles in higher frequency and protective alleles in lower frequency than NHW. Patterns of population differentiation showed that Puerto Ricans had SNPs with exceptional FST values in intronic, non-synonymous and promoter regions. NHW had exceptional FST values in intronic and promoter region SNPs only. CONCLUSION. These observations may serve to explain and broaden studies on the impact of gene polymorphisms on chronic diseases affecting Puerto Ricans. en_US
dc.description.sponsorship National Institutes of Health, National Institutes on Aging (P01AG02394, P01AG023394-SI); National Insitutes of Health (53-K06-5-10); US Department of Agriculture Research Service (58-1950-9-001, 58-1950-7-707); National Institutes of Health & Heart, Lung, and Blood Institute (U 01 HL72524, Genetic and Environmental Determinants of Triglycerides, HL54776) en_US
dc.language.iso en en_US
dc.publisher BioMed Central en_US
dc.rights Copyright 2009 Mattei et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. en_US
dc.rights.uri http://creativecommons.org/licenses/by/2.0 en_US
dc.title Disparities in Allele Frequencies and Population Differentiation for 101 Disease-Associated Single Nucleotide Polymorphisms Between Puerto Ricans and Non-Hispanic Whites en_US
dc.type article en_US
dc.identifier.doi 10.1186/1471-2156-10-45 en_US
dc.identifier.pubmedid 19682384 en_US
dc.identifier.pmcid 2734553 en_US

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