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Genome-Wide Association Study of African and European Americans Implicates Multiple Shared and Ethnic Specific Loci in Sarcoidosis Susceptibility

Author

Listed:
  • 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 Kimberly
  • John B Harley
  • Michael C Iannuzzi
  • Benjamin A Rybicki
  • Courtney G Montgomery

Abstract

Sarcoidosis is a systemic inflammatory disease characterized by the formation of granulomas in affected organs. Genome-wide association studies (GWASs) of this disease have been conducted only in European population. We present the first sarcoidosis GWAS in African Americans (AAs, 818 cases and 1,088 related controls) followed by replication in independent sets of AAs (455 cases and 557 controls) and European Americans (EAs, 442 cases and 2,284 controls). We evaluated >6 million SNPs either genotyped using the Illumina Omni1-Quad array or imputed from the 1000 Genomes Project data. We identified a novel sarcoidosis-associated locus, NOTCH4, that reached genome-wide significance in the combined AA samples (rs715299, PAA-meta = 6.51×10−10) and demonstrated the independence of this locus from others in the MHC region in the same sample. We replicated previous European GWAS associations within HLA-DRA, HLA-DRB5, HLA-DRB1, BTNL2, and ANXA11 in both our AA and EA datasets. We also confirmed significant associations to the previously reported HLA-C and HLA-B regions in the EA but not AA samples. We further identified suggestive associations with several other genes previously reported in lung or inflammatory diseases.

Suggested Citation

  • 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.
    • Handle: RePEc:plo:pone00:0043907
    DOI: 10.1371/journal.pone.0043907
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    1. Yohei Yatagai & Tohru Sakamoto & Hironori Masuko & Yoshiko Kaneko & Hideyasu Yamada & Hiroaki Iijima & Takashi Naito & Emiko Noguchi & Tomomitsu Hirota & Mayumi Tamari & Yoshimasa Imoto & Takahiro Tok, 2013. "Genome-Wide Association Study for Levels of Total Serum IgE Identifies HLA-C in a Japanese Population," PLOS ONE, Public Library of Science, vol. 8(12), pages 1-9, December.
    2. 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.

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