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dc.contributor.authorMattei, Josiemeren_US
dc.contributor.authorParnell, Laurence Den_US
dc.contributor.authorLai, Chao-Qiangen_US
dc.contributor.authorGarcia-Bailo, Bibianaen_US
dc.contributor.authorAdiconis, Xianen_US
dc.contributor.authorShen, Jianen_US
dc.contributor.authorArnett, Donnaen_US
dc.contributor.authorDemissie, Serkalemen_US
dc.contributor.authorTucker, Katherine Len_US
dc.contributor.authorOrdovas, Jose Men_US
dc.date.accessioned2012-01-11T15:51:11Z
dc.date.available2012-01-11T15:51:11Z
dc.date.copyright2009en_US
dc.date.issued2009-8-14en_US
dc.identifier.citationMattei, 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.issn1471-2156en_US
dc.identifier.urihttp://hdl.handle.net/2144/3069
dc.description.abstractBACKGROUND. 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.sponsorshipNational 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.isoenen_US
dc.publisherBioMed Centralen_US
dc.rightsCopyright 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.urihttp://creativecommons.org/licenses/by/2.0en_US
dc.titleDisparities in Allele Frequencies and Population Differentiation for 101 Disease-Associated Single Nucleotide Polymorphisms Between Puerto Ricans and Non-Hispanic Whitesen_US
dc.typearticleen_US
dc.identifier.doi10.1186/1471-2156-10-45en_US
dc.identifier.pubmedid19682384en_US
dc.identifier.pmcid2734553en_US


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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.
Except where otherwise noted, this item's license is described as 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.