Genetic Variants Associated with FDNY WTC-Related Sarcoidosis

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. Spivack and David J. Prezant
Additional contact information
Krystal L. Cleven: Pulmonology Division, Department of Medicine, Montefiore Medical Center, Bronx, NY 10467, USA
Kenny Ye: Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY 10461, USA
Rachel Zeig-Owens: Pulmonology Division, Department of Medicine, Montefiore Medical Center, Bronx, NY 10467, 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
Jidong Shan: Department of Genetics, 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
Hilary L. Colbeth: Pulmonology Division, Department of Medicine, Montefiore Medical Center, Bronx, NY 10467, USA
David G. Goldfarb: Pulmonology Division, Department of Medicine, Montefiore Medical Center, Bronx, NY 10467, USA
Simon D. Spivack: Pulmonology Division, Department of Medicine, Montefiore Medical Center, Bronx, NY 10467, USA
David J. Prezant: Pulmonology Division, Department of Medicine, Montefiore Medical Center, Bronx, NY 10467, USA

IJERPH, 2019, vol. 16, issue 10, 1-10

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.

Keywords: sarcoidosis; World Trade Center; 9/11; genetics; firefighters; FDNY (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2019
References: View references in EconPapers View complete reference list from CitEc
Citations: View citations in EconPapers (3)

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