Evidence mapPaperPMID 19682384Full record

ArticleBMC genetics2009

Disparities in allele frequencies and population differentiation for 101 disease-associated single nucleotide polymorphisms between Puerto Ricans and non-Hispanic whites.

Josiemer Mattei, Laurence D Parnell, Chao-Qiang Lai, Bibiana Garcia-Bailo, Xian Adiconis, Jian Shen, Donna Arnett, Serkalem Demissie, Katherine L Tucker, Jose M Ordovas

Registry-linked trialOpen access · diamondAbstract read
In one paragraph

Article in BMC genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01231958 (The Boston Puerto Rican Health Study), which is not on this map. Cited by 29 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
29citing papers in PubMed, 2 pooled it
2.7field-weighted citation impact, top 10% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT01231958 completednot on this map

The Boston Puerto Rican Health Study: Center for Population Health and Health Disparities

TypeobservationalSponsorUniversity of Massachusetts, LowellRan2004 to 2017Enrolled1,650ConditionsCardiovascular Risk FactorArmsThe Heart Healthy Initiative for Hispanic Adults (HIP)
3 · Its place in the literature

Who cites it

29 citing papers in PubMed, 2 syntheses or guidelines pooled it, 56 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Admixture Mapping of Lipid Traits in Hispanic Americans.Journal of the American Heart Association · 2025
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  18. The longitudinal association of vitamin D serum concentrations & adiposity phenotype.The Journal of steroid biochemistry and molecular biology · 2014
    Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 5 institutions in 2 countries.

Josiemer MatteiJean Mayer US Department of Agriculture Human Nutrition Research Center on Aging, Tufts University, Boston, MA, USA. josiemer.mattei@tufts.edu
Laurence D Parnell
Chao-Qiang Lai
Bibiana Garcia-Bailo
Xian Adiconis
Jian Shen
Donna Arnett
Serkalem Demissie
Katherine L Tucker
Jose M Ordovas
Tufts University · USBoston University · USBroad Institute · USUniversity of Alabama at Birmingham · USUniversity of Toronto · CA

Funding

Genetic and Environmental Determinants of TriglyceridesU01HL072524 · NHLBI · UNIVERSITY OF MINNESOTA TWIN CITIES · PI ARNETT, DONNA K · 2002 to 2008
$11.9M
Center for Research/Nutrition &Health among the ElderlyP01AG023394 · NIA · TUFTS UNIVERSITY BOSTON · PI TUCKER, KATHERINE L · 2003 to 2007
$8.1M
GENE/DIET EFFECTS ON PLASMA LIPOPROTEIN LEVELSR01HL054776 · NHLBI · TUFTS UNIVERSITY BOSTON · PI ORDOVAS, JOSE M. · 1996 to 2010
$2.6M
Nutrition &Cardiovascular Disease Training ProgramT32HL069772 · NHLBI · TUFTS UNIVERSITY BOSTON · PI LICHTENSTEIN, ALICE H · 2003 to 2017
$2.1M
NHLBI NIH HHS HL54776NHLBI NIH HHS R01 HL054776NHLBI NIH HHS T32 HL069772NHLBI NIH HHS U 01 HL72524NIA NIH HHS P01 AG023394NIA NIH HHS P01AG023394NIA NIH HHS P01AG023394-S1PHS HHS 53-K06-5-10
6 · The paper itself

Abstract

backgroundVariations 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).

resultsMinor 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.

conclusionThese observations may serve to explain and broaden studies on the impact of gene polymorphisms on chronic diseases affecting Puerto Ricans.

Indexed as

Gene FrequencyGenetics, PopulationGenome-Wide Association StudyAgedAllelesFemaleGenetic Predisposition to DiseaseGenotypeHispanic or LatinoHumansMaleMiddle AgedPolymorphism, Single NucleotideWhite People

Identifiers

PMID19682384
PMCPMC2734553
OpenAlexW2033976631

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.