Genetic Variants Associated with FDNY WTC-Related Sarcoidosis

Bibliographic Data

ID15468646
AuthorsKrystal L Cleven (0000-0002-6921-9743, Albert Einstein College of Medicine, corresponding author), Kenny Ye (0000-0002-1466-855X, Albert Einstein College of Medicine, corresponding author), Rachel Zeig‐Owens (0000-0002-8679-2306, Albert Einstein College of Medicine), Rachel Zeig-Owens (Montefiore Medical Center), Kerry Hena (0000-0002-6043-1991, New York University), Kerry M Hena (Pulmonary & Critical Care Division, Department of Medicine, NYU School of Medicine, New York, NY 10016, USA), Cristina Montagna (0000-0003-2343-5851, Albert Einstein College of Medicine), Jidong Shan (0000-0001-7732-4212, Albert Einstein College of Medicine), H Dean Hosgood (0000-0003-4151-1133, Albert Einstein College of Medicine), Nadia Jaber (New York City Fire Department), Michael D Weiden (0000-0001-7419-0757, New York City Fire Department), Hilary L Colbeth (0000-0002-4033-975X, Montefiore Medical Center), Hilary Colbeth (0000-0003-0750-2735, New York City Fire Department), David G Goldfarb (0000-0003-2682-7543, New York City Fire Department), Simon D Spivack (0000-0002-8338-8906, Albert Einstein College of Medicine), David J Prezant (0000-0001-9562-0330, New York City Fire Department)
Year2019
Volume16
Issue10
Pages1830-1830
Publication date2019-05-23
Peer ReviewedYes
Open AccessYes
TypeARTICLE
VenueInternational Journal of Environmental Research and Public Health (JOURNAL)
Journal identifiersISSN: 1661-7827 • E-ISSN: 1660-4601
PublisherMultidisciplinary Digital Publishing Institute (PUBLISHER • CH)
DOI10.3390/ijerph16101830
PMID31126090
OpenAlexW2945929573
LanguageEN
Citations received1
References cited28

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

Allele · Antigen · Biology · Gene · Human leukocyte antigen · Pathology · Sarcoidosis · Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis · Medicine · Occupational exposure and asthma · Sarcoidosis and Beryllium Toxicity Research · Genetics · Immunology

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