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, nonsynonymous 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.
Keywords
Puerto Ricans, gene allele frequencies, population differentiation, genetics, chronic diseases
Subject Categories
Human population genetics, Puerto Ricans - United States - Diseases
Disciplines
Genetics
Publisher
BioMedCentral
Publication Date
8-14-2009
Rights Information
© 2009 Mattei et al
Restrictions
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.
Rights Holder
Mattei, et al.; licensee BioMed Central Ltd.
Permanent URL
Recommended Citation
Mattei, Josiemer; Parnell, Laurence D.; Lai, Chao-Qiang; Garcia-Bailo, Bibiana; Adiconis, Xian; Shen, Jian; Arnett, Donna; Demissie, Serkalem; Tucker, Katherine L.; and Ordovas, Jose M., "Disparities in allele frequencies and population differentiation for 101 disease-associated single nucleotide polymorphisms between Puerto Ricans and non-Hispanic whites" (2009). Bouvé Faculty Publications. Paper 43. http://hdl.handle.net/2047/d20002611
Gene and genotyping information for 101 SNPs genotyped in Puerto Rican and non-Hispanic white subjects
tucker s2.doc (281 kB)
Allele and genotype frequencies for 101 SNPs in Puerto Ricans and non-Hispanic whites
tucker s3.doc (258 kB)
Predicted minor allele frequencies, and measures of population differentiation for Puerto Ricans and non-Hispanic whites
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Additional Files
tucker s1.doc (200 kB)Gene and genotyping information for 101 SNPs genotyped in Puerto Rican and non-Hispanic white subjects
tucker s2.doc (281 kB)
Allele and genotype frequencies for 101 SNPs in Puerto Ricans and non-Hispanic whites
tucker s3.doc (258 kB)
Predicted minor allele frequencies, and measures of population differentiation for Puerto Ricans and non-Hispanic whites
Notes
Originally published in BMC Genetics 2009, 10:45. doi:10.1186/1471-2156-10-45
This work was supported by the National Institutes of Health, National Institute on Aging, Grant Number P01AG023394 and P01AG023394-S1, by contract 53-K06-5-10 from NIH and 58-1950-9-001 and 58-1950-7-707 from the US Department of Agriculture Research Service, and by NIH Heart, Lung and Blood Institute grant U 01 HL72524, Genetic and Environmental Determinants of Triglycerides and HL54776.
Dr. Tucker is affiliated with Northeastern University at the time of deposit.