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Genetic Variants Associated with FDNY WTC-Related Sarcoidosis

Author

Listed:
  • Krystal L. Cleven

    (Pulmonology Division, Department of Medicine, Montefiore Medical Center, Bronx, NY 10467, USA
    Pulmonology Division, Department of Medicine, Albert Einstein College of Medicine, Bronx, NY 10467, USA
    These authors share equal authorship.)

  • Kenny Ye

    (Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    These authors share equal authorship.)

  • Rachel Zeig-Owens

    (Pulmonology Division, Department of Medicine, Montefiore Medical Center, Bronx, NY 10467, USA
    Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Fire Department of the City of New York, Bureau of Health Services, Brooklyn, NY 11201, USA)

  • Kerry M. Hena

    (Pulmonary & Critical Care Division, Department of Medicine, NYU School of Medicine, New York, NY 10016, USA)

  • Cristina Montagna

    (Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Department of Pathology, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Molecular Cytogenetic Core, Albert Einstein College of Medicine, Bronx, NY 10461, USA)

  • Jidong Shan

    (Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Molecular Cytogenetic Core, Albert Einstein College of Medicine, Bronx, NY 10461, USA)

  • H. Dean Hosgood

    (Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY 10461, USA)

  • Nadia Jaber

    (Fire Department of the City of New York, Bureau of Health Services, Brooklyn, NY 11201, USA)

  • Michael D. Weiden

    (Fire Department of the City of New York, Bureau of Health Services, Brooklyn, NY 11201, USA
    Pulmonary & Critical Care Division, Department of Medicine, NYU School of Medicine, New York, NY 10016, USA)

  • Hilary L. Colbeth

    (Pulmonology Division, Department of Medicine, Montefiore Medical Center, Bronx, NY 10467, USA
    Fire Department of the City of New York, Bureau of Health Services, Brooklyn, NY 11201, USA)

  • David G. Goldfarb

    (Pulmonology Division, Department of Medicine, Montefiore Medical Center, Bronx, NY 10467, USA
    Fire Department of the City of New York, Bureau of Health Services, Brooklyn, NY 11201, USA)

  • Simon D. Spivack

    (Pulmonology Division, Department of Medicine, Montefiore Medical Center, Bronx, NY 10467, USA
    Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Pulmonary & Critical Care Division, Department of Medicine, NYU School of Medicine, New York, NY 10016, USA
    Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA)

  • David J. Prezant

    (Pulmonology Division, Department of Medicine, Montefiore Medical Center, Bronx, NY 10467, USA
    Fire Department of the City of New York, Bureau of Health Services, Brooklyn, NY 11201, USA
    Pulmonary & Critical Care Division, Department of Medicine, NYU School of Medicine, New York, NY 10016, USA
    These authors share equal authorship.)

Abstract

Sarcoidosis is a systemic granulomatous disease of unknown etiology. It may develop in response to an exposure or inflammatory trigger in the background of a genetically primed abnormal immune response. Thus, genetic studies are potentially important to our understanding of the pathogenesis of sarcoidosis. We developed a case-control study which explored the genetic variations between firefighters in the Fire Department of the City of New York (FDNY) with World Trade Center (WTC)-related sarcoidosis and those with WTC exposure, but without sarcoidosis. The loci of fifty-one candidate genes related to granuloma formation, inflammation, immune response, and/or sarcoidosis were sequenced at high density in enhancer/promoter, exonic, and 5’ untranslated regions. Seventeen allele variants of human leukocyte antigen (HLA) and non-HLA genes were found to be associated with sarcoidosis, and all were within chromosomes 1 and 6. Our results also suggest an association between extrathoracic involvement and allele variants of HLA and non-HLA genes found not only on chromosomes 1 and 6, but also on chromosomes 16 and 17. We found similarities between genetic variants with WTC-related sarcoidosis and those reported previously in sporadic sarcoidosis cases within the general population. In addition, we identified several allele variants never previously reported in association with sarcoidosis. If confirmed in larger studies with known environmental exposures, these novel findings may provide insight into the gene-environment interactions key to the development of sarcoidosis.

Suggested Citation

  • Krystal L. Cleven & Kenny Ye & Rachel Zeig-Owens & Kerry M. Hena & Cristina Montagna & Jidong Shan & H. Dean Hosgood & Nadia Jaber & Michael D. Weiden & Hilary L. Colbeth & David G. Goldfarb & Simon D, 2019. "Genetic Variants Associated with FDNY WTC-Related Sarcoidosis," IJERPH, MDPI, vol. 16(10), pages 1-10, May.
    • Handle: RePEc:gam:jijerp:v:16:y:2019:i:10:p:1830-:d:233706
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    References listed on IDEAS

    as
    1. Indra Adrianto & Chee Paul Lin & Jessica J Hale & Albert M Levin & Indrani Datta & Ryan Parker & Adam Adler & Jennifer A Kelly & Kenneth M Kaufman & Christopher J Lessard & Kathy L Moser & Robert P Ki, 2012. "Genome-Wide Association Study of African and European Americans Implicates Multiple Shared and Ethnic Specific Loci in Sarcoidosis Susceptibility," PLOS ONE, Public Library of Science, vol. 7(8), pages 1-10, August.
    Full references (including those not matched with items on IDEAS)

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    Cited by:

    1. Robert M. Brackbill & Judith M. Graber & William A. (Allen) Robison, 2019. "Editorial for “Long-Term Health Effects of the 9/11 Disaster” in International Journal of Environmental Research and Public Health , 2019," IJERPH, MDPI, vol. 16(18), pages 1-6, September.
    2. Julia Citron & Emma Willcocks & George Crowley & Sophia Kwon & Anna Nolan, 2019. "Genomics of Particulate Matter Exposure Associated Cardiopulmonary Disease: A Narrative Review," IJERPH, MDPI, vol. 16(22), pages 1-11, November.

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