The Environmental Polymorphism Registry: a unique resource that facilitates translational research of environmental disease.

Abstract:

BACKGROUND:Dissecting complex disease has become more feasible because of the availability of large-scale DNA resources and advances in high-throughput genomic technology. Although these tools help scientists identify potential susceptibility loci, subjects with relevant genotypes are needed for clinical phenotyping and toxicity studies. OBJECTIVE:We have developed a resource of subjects and their DNA to use for translational research of environmental disease. METHODS:More than 15,000 individuals of diverse sex, age, race, and ethnicity were recruited from North Carolina. DNA was isolated from their blood and coded with personal identification numbers linked to their identities. This linked resource of subjects and their DNA-the Environmental Polymorphism Registry (EPR)-allows scientists to screen for individuals with genotypes of interest and invite them to participate in follow-up studies. DISCUSSION:The EPR is a phenotype-by-genotype resource designed to facilitate translational studies of environmental disease. Based on their genotypes, subjects are invited to participate at all levels of research, from basic laboratory ex vivo cell phenotyping experiments that require viable tissue to in vivo observational studies and clinical trials. Here we report on progress of the EPR since 2008. We also describe a major effort at the National Institute of Environmental Health Sciences (NIEHS) to investigate susceptibility loci in 87 environmental response genes and gene × environment interactions using EPR resources. CONCLUSION:The EPR is a unique and novel resource and is ideal for genotype-driven translational research of environmental disease. We expect that it will serve as a model for future resources. Such tools help scientists attain their ultimate goals: to identify at-risk populations and develop strategies for preventing and treating human disease.

authors

Chulada PC,Vainorius E,Garantziotis S,Burch LH,Blackshear PJ,Zeldin DC

doi

10.1289/ehp.1003348

subject

Has Abstract

pub_date

2011-11-01 00:00:00

pages

1523-7

issue

11

eissn

0091-6765

issn

1552-9924

journal_volume

119

pub_type

杂志文章
  • An approach to the development of quantitative models to assess the effects of exposure to environmentally relevant levels of endocrine disruptors on homeostasis in adults.

    abstract::The workshop "Characterizing the Effects of Endocrine Disruptors on Human Health at Environmental Exposure Levels" was held to provide a forum for discussions and recommendations of methods and data needed to improve risk assessments of endocrine disruptors. This article was produced by a working group charged with de...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章

    doi:10.1289/ehp.99107s4605

    authors: Ben-Jonathan N,Cooper RL,Foster P,Hughes CL,Hoyer PB,Klotz D,Kohn M,Lamb DJ,Stancel GM

    更新日期:1999-08-01 00:00:00

  • Sources of mercury exposure for U.S. seafood consumers: implications for policy.

    abstract:BACKGROUND:Recent policies attempting to reduce adverse effects of methylmercury exposure from fish consumption in the United States have targeted reductions in anthropogenic emissions from U.S. sources. OBJECTIVES:To analyze the prospects for future North American and international emissions controls, we assessed the...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章

    doi:10.1289/ehp.0900811

    authors: Selin NE,Sunderland EM,Knightes CD,Mason RP

    更新日期:2010-01-01 00:00:00

  • Risk of internal cancers from arsenic in drinking water.

    abstract::The U.S. Environmental Protection Agency is under a congressional mandate to revise its current standard for arsenic in drinking water. We present a risk assessment for cancers of the bladder, liver, and lung from exposure to arsenic in water, based on data from 42 villages in an arseniasis-endemic region of Taiwan. W...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章

    doi:10.1289/ehp.00108655

    authors: Morales KH,Ryan L,Kuo TL,Wu MM,Chen CJ

    更新日期:2000-07-01 00:00:00

  • Environmental noise pollution in the United States: developing an effective public health response.

    abstract:BACKGROUND:Tens of millions of Americans suffer from a range of adverse health outcomes due to noise exposure, including heart disease and hearing loss. Reducing environmental noise pollution is achievable and consistent with national prevention goals, yet there is no national plan to reduce environmental noise polluti...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章

    doi:10.1289/ehp.1307272

    authors: Hammer MS,Swinburn TK,Neitzel RL

    更新日期:2014-02-01 00:00:00

  • Endocrine disruptors and human health--is there a problem? An update.

    abstract::It has been hypothesized that environmental exposure to synthetic estrogenic chemicals and related endocrine-active compounds may be responsible for a global decrease in sperm counts, decreased male reproductive capacity, and breast cancer in women. Results of recent studies show that there are large demographic varia...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章,评审

    doi:10.1289/ehp.00108487

    authors: Safe SH

    更新日期:2000-06-01 00:00:00

  • Use of the land snail Helix aspersa as sentinel organism for monitoring ecotoxicologic effects of urban pollution: an integrated approach.

    abstract::Atmospheric pollution from vehicular traffic is a matter of growing interest, often leading to temporary restrictions in urban areas. Although guidelines indicate limits for several parameters, the real toxicologic impacts remain largely unexplored in field conditions. In this study our aim was to validate an ecotoxic...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章

    doi:10.1289/ehp.8397

    authors: Regoli F,Gorbi S,Fattorini D,Tedesco S,Notti A,Machella N,Bocchetti R,Benedetti M,Piva F

    更新日期:2006-01-01 00:00:00

  • Interactions between glutathione S-transferase P1, tumor necrosis factor, and traffic-related air pollution for development of childhood allergic disease.

    abstract:BACKGROUND:Air pollutants may induce airway inflammation and sensitization due to generation of reactive oxygen species. The genetic background to these mechanisms could be important effect modifiers. OBJECTIVE:Our goal was to assess interactions between exposure to air pollution and single nucleotide polymorphisms (S...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章

    doi:10.1289/ehp.11117

    authors: Melén E,Nyberg F,Lindgren CM,Berglind N,Zucchelli M,Nordling E,Hallberg J,Svartengren M,Morgenstern R,Kere J,Bellander T,Wickman M,Pershagen G

    更新日期:2008-08-01 00:00:00

  • Sensitivity of health endpoints: effect on conclusions of studies.

    abstract::The types of biological response to an environmental agent can depend on dose, thus in this case a family of widely different dose-response relationships would be expected. For those situations where the magnitude of the effect may be determined on probabilistic grounds as a function of dose ("stochastic" model), no p...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章

    doi:10.1289/ehp.814245

    authors: Radford EP

    更新日期:1981-12-01 00:00:00

  • A Combined Morphometric and Statistical Approach to Assess Nonmonotonicity in the Developing Mammary Gland of Rats in the CLARITY-BPA Study.

    abstract:BACKGROUND:The Consortium Linking Academic and Regulatory Insights on Bisphenol-A (CLARITY-BPA) is a rare collaboration of guideline-compliant (core) studies and academic hypothesis-based studies to assess the effects of bisphenol A (BPA). OBJECTIVES:We aimed to a) determine whether BPA showed effects on the developin...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章

    doi:10.1289/EHP6301

    authors: Montévil M,Acevedo N,Schaeberle CM,Bharadwaj M,Fenton SE,Soto AM

    更新日期:2020-05-01 00:00:00

  • Prenatal exposure to cigarette smoke induces diet- and sex-dependent dyslipidemia and weight gain in adult murine offspring.

    abstract:BACKGROUND:Cardiovascular disease (CVD) affects 71 million American adults and remains the leading cause of death in the United States and Europe. Despite studies that suggest that the development of CVD may be linked to intrauterine growth or early events in childhood, little direct experimental evidence supports the ...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章

    doi:10.1289/ehp.0800193

    authors: Ng SP,Conklin DJ,Bhatnagar A,Bolanowski DD,Lyon J,Zelikoff JT

    更新日期:2009-07-01 00:00:00

  • Hemopoietic stem cells: stochastic differentiation and humoral control of proliferation.

    abstract::The central feature of hemopoiesis is life-long, stable cell renewal. This process is supported by hemopoietic stem cells which, in the steady state, appear to be dormant in cell cycling. The entry into cell cycle of the dormant stem cells may be promoted by such factors as interleukin-1, interleukin-6 (IL-6), and gra...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章,评审

    doi:10.1289/ehp.8980199

    authors: Ogawa M

    更新日期:1989-03-01 00:00:00

  • Perinatal and multigenerational effect of carcinogens: possible contribution to determination of cancer susceptibility.

    abstract::Perinatal exposure to carcinogens may contribute to the determination of susceptibility to cancer in two situations: a) exposure in utero of embryonal or fetal somatic cells to carcinogens, and b) prezygotic exposure of the germ cells of one or both parents to carcinogens. Epidemiological as well as experimental studi...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章,评审

    doi:10.1289/ehp.929839

    authors: Yamasaki H,Loktionov A,Tomatis L

    更新日期:1992-11-01 00:00:00

  • Pentachlorophenol and hydroxylated polychlorinated biphenyl metabolites in umbilical cord plasma of neonates from coastal populations in Québec.

    abstract::Concentrations of polychlorinated biphenyls (PCBs), hydroxylated metabolites of PCBs (HO-PCBs) and octachlorostyrene (4-HO-HpCS), and pentachlorophenol (PCP) were determined in umbilical cord plasma samples from three different regions of Québec. The regions studied included two coastal areas where exposure to PCBs is...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章

    doi:10.1289/ehp.02110411

    authors: Sandau CD,Ayotte P,Dewailly E,Duffe J,Norstrom RJ

    更新日期:2002-04-01 00:00:00

  • Concerning the need for more sophisticated animal models in sensory behavioral toxicology.

    abstract::It is necessary but not sufficient to develop laboratory animal models in sensory behavioral toxicology for screening toxic substances and for the analysis of sensory impairment at threshold levels of stimulation. It is important to develop more thorough and quantitative tests of impairment which in their greater comp...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章

    doi:10.1289/ehp.824477

    authors: Stebbins WC

    更新日期:1982-04-01 00:00:00

  • Cell signaling pathways elicited by asbestos.

    abstract::In recent years, it has become apparent that minerals can trigger alterations in gene expression by initiating signaling events upstream of gene transactivation. These cascades may be initiated at the cell surface after interaction of minerals with the plasma membrane either through receptorlike mechanisms or integrin...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章

    doi:10.1289/ehp.97105s51121

    authors: Mossman BT,Faux S,Janssen Y,Jimenez LA,Timblin C,Zanella C,Goldberg J,Walsh E,Barchowsky A,Driscoll K

    更新日期:1997-09-01 00:00:00

  • Prospective study of exposure to environmental tobacco smoke and dysmenorrhea.

    abstract::Dysmenorrhea is a common gynecologic disorder in women of reproductive age. Previous studies have found an association between current cigarette smoking and prevalence of dysmenorrhea. This study investigated the association between exposure to environmental tobacco smoke (ETS) and the occurrence of dysmenorrhea among...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章

    doi:10.1289/ehp.001081019

    authors: Chen C,Cho SI,Damokosh AI,Chen D,Li G,Wang X,Xu X

    更新日期:2000-11-01 00:00:00

  • Suppression of metallothionein-I/II expression and its probable molecular mechanisms.

    abstract::Metallothionein (MT) promoter was methylated in rat hepatoma and in mouse lymphosarcoma cells by methylation of cytosine within the CpG dinucleotide region. After demethylation of MT-I promoter in mouse lymphosarcoma cells or in the transplanted rat hepatoma with 5-azacytidine, a potent inhibitor of DNA methyltransfer...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章

    doi:10.1289/ehp.02110s5827

    authors: Jacob ST,Majumder S,Ghoshal K

    更新日期:2002-10-01 00:00:00

  • Tetrahydrofurandiol stimulation of phospholipase A2, lipoxygenase, and cyclooxygenase gene expression and MCF-7 human breast cancer cell proliferation.

    abstract:BACKGROUND:We characterized an endocrine disruptor from ground corncob bedding material that interferes with male and female sexual behavior and ovarian cyclicity in rats and stimulates estrogen receptor (ER)-positive and ER-negative breast cancer cell proliferation. The agents were identified as an isomeric mixture of...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章

    doi:10.1289/ehp.10659

    authors: Markaverich BM,Crowley J,Rodriquez M,Shoulars K,Thompson T

    更新日期:2007-12-01 00:00:00

  • Putative inhibitory effects of chrysotile, crocidolite, and amosite mineral fibers on the more complex surface membrane glycolipids and glycoproteins.

    abstract::Syrian hamster embryo cells were treated with galactose oxidase, followed by reduction with tritiated sodium borohydride at pH 7.4. The labeling patterns of galactosyl and N-acetyl galactosaminyl residues on the cell surface were altered in comparing scraped vs. unscraped and buffer vs. media-soaked cells treated with...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章

    doi:10.1289/ehp.8034103

    authors: Newman HA,Saat YA,Hart RW

    更新日期:1980-02-01 00:00:00

  • Diffusion of residual monomer in polymer resins.

    abstract::A simplified mathematical model which made use of Fick's laws of diffusion written in spherical coordinates was developed to describe the rate of diffusion of residual monomers from polymer resins. The properties of the monomer-polymer system which influenced the amount of monomer remaining in the polymer as a functio...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章

    doi:10.1289/ehp.7617227

    authors: Piver WT

    更新日期:1976-10-01 00:00:00

  • Exposure to regular gasoline and ethanol oxyfuel during refueling in Alaska.

    abstract::Although most people are thought to receive their highest acute exposures to gasoline while refueling, relatively little is actually known about personal, nonoccupational exposures to gasoline during refueling activities. This study was designed to measure exposures associated with the use of an oxygenated fuel under ...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章

    doi:10.1289/ehp.97105850

    authors: Backer LC,Egeland GM,Ashley DL,Lawryk NJ,Weisel CP,White MC,Bundy T,Shortt E,Middaugh JP

    更新日期:1997-08-01 00:00:00

  • Benzene exposure near the U.S. permissible limit is associated with sperm aneuploidy.

    abstract:BACKGROUND:Benzene is a common industrial chemical known to induce leukemia and other blood disorders, as well as aneuploidy, in both human blood cells and sperm at exposures > 10 ppm. Recent reports have identified health effects at exposure levels < 1 ppm, the permissible exposure limit (PEL; 8 hr) set by the U.S. Oc...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章

    doi:10.1289/ehp.0901531

    authors: Xing C,Marchetti F,Li G,Weldon RH,Kurtovich E,Young S,Schmid TE,Zhang L,Rappaport S,Waidyanatha S,Wyrobek AJ,Eskenazi B

    更新日期:2010-06-01 00:00:00

  • Intestinal metabolism.

    abstract::The anatomy of the intestine is outlined. The kinetics of cell proliferation, differentiation, and migration in intestinal epithelium are described. The distribution of cell types between the proliferation and differentiation compartments of the epithelium is summarized. Seven preparations of intestine in current use ...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章

    doi:10.1289/ehp.793325

    authors: Porteous JW

    更新日期:1979-12-01 00:00:00

  • Nutritional considerations in designing animal models of metal toxicity in man.

    abstract::In recent years, exposure of man to increasing amounts of metals has occurred rather generally from industrial contamination and variably from intake of dietary mineral supplements. Adverse effects of individual metals can be markedly altered by dietary levels of other essential and nonessential inorganic elements, es...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章

    doi:10.1289/ehp.7825137

    authors: Fox MR

    更新日期:1978-08-01 00:00:00

  • The Salmonella mutagenicity assay: the stethoscope of genetic toxicology for the 21st century.

    abstract:OBJECTIVES:According to the 2007 National Research Council report Toxicology for the Twenty-First Century, modern methods (e.g., "omics," in vitro assays, high-throughput testing, computational methods) will lead to the emergence of a new approach to toxicology. The Salmonella mammalian microsome mutagenicity assay has...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章,评审

    doi:10.1289/ehp.1002336

    authors: Claxton LD,Umbuzeiro Gde A,DeMarini DM

    更新日期:2010-11-01 00:00:00

  • Reactive oxygen species: their relation to pneumoconiosis and carcinogenesis.

    abstract::Occupational exposures to mineral particles cause pneumoconiosis and other diseases, including cancer. Recent studies have suggested that reactive oxygen species (ROS) may play a key role in the mechanisms of disease initiation and progression following exposure to these particles. ROS-induced primary stimuli result i...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章,评审

    doi:10.1289/ehp.98106s51151

    authors: Vallyathan V,Shi X,Castranova V

    更新日期:1998-10-01 00:00:00

  • Black carbon exposure, oxidative stress genes, and blood pressure in a repeated-measures study.

    abstract:BACKGROUND:Particulate matter (PM) air pollution has been associated with cardiovascular morbidity and mortality, and elevated blood pressure (BP) is a known risk factor for cardiovascular disease. A small number of studies have investigated the relationship between PM and BP and found mixed results. Evidence suggests ...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章

    doi:10.1289/ehp.0900591

    authors: Mordukhovich I,Wilker E,Suh H,Wright R,Sparrow D,Vokonas PS,Schwartz J

    更新日期:2009-11-01 00:00:00

  • Human health and chemical mixtures: an overview.

    abstract::Unlike laboratory animals, people are rarely exposed to a single hazardous chemical. However, most of the information documenting adverse human health effects from environmental and occupational contaminants has come from studies focused on exposure to single chemicals, and there is little information available on how...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章,评审

    doi:10.1289/ehp.98106s61263

    authors: Carpenter DO,Arcaro KF,Bush B,Niemi WD,Pang S,Vakharia DD

    更新日期:1998-12-01 00:00:00

  • Nitrate contamination of drinking water: evaluation of genotoxic risk in human populations.

    abstract::Nitrate contamination of drinking water implies a genotoxic risk to man due to the endogenous formation of carcinogenic N-nitroso compounds from nitrate-derived nitrite. Thus far, epidemiological studies have presented conflicting results on the relation of drinking water nitrate levels with gastric cancer incidence. ...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章

    doi:10.1289/ehp.94-1567968

    authors: Kleinjans JC,Albering HJ,Marx A,van Maanen JM,van Agen B,ten Hoor F,Swaen GM,Mertens PL

    更新日期:1991-08-01 00:00:00

  • Climate change, human health, and biomedical research: analysis of the National Institutes of Health research portfolio.

    abstract:BACKGROUND:According to a wide variety of analyses and projections, the potential effects of global climate change on human health are large and diverse. The U.S. National Institutes of Health (NIH), through its basic, clinical, and population research portfolio of grants, has been increasing efforts to understand how ...

    journal_title:Environmental health perspectives

    pub_type: 杂志文章,评审

    doi:10.1289/ehp.1104518

    authors: Jessup CM,Balbus JM,Christian C,Haque E,Howe SE,Newton SA,Reid BC,Roberts L,Wilhelm E,Rosenthal JP

    更新日期:2013-04-01 00:00:00