IDEAS home Printed from https://ideas.repec.org/a/plo/pone00/0043907.html
   My bibliography  Save this article

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
    as

    Download full text from publisher

    File URL: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0043907
    Download Restriction: no

    File URL: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0043907&type=printable
    Download Restriction: no

    File URL: https://libkey.io/10.1371/journal.pone.0043907?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    References listed on IDEAS

    as
    1. Jussi Taipale & Philip A. Beachy, 2001. "The Hedgehog and Wnt signalling pathways in cancer," Nature, Nature, vol. 411(6835), pages 349-354, May.
    2. Olga Gorlova & Jose-Ezequiel Martin & Blanca Rueda & Bobby P C Koeleman & Jun Ying & Maria Teruel & Lina-Marcela Diaz-Gallo & Jasper C Broen & Madelon C Vonk & Carmen P Simeon & Behrooz Z Alizadeh & M, 2011. "Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy," PLOS Genetics, Public Library of Science, vol. 7(7), pages 1-11, July.
    3. Bryan N Howie & Peter Donnelly & Jonathan Marchini, 2009. "A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies," PLOS Genetics, Public Library of Science, vol. 5(6), pages 1-15, June.
    Full references (including those not matched with items on IDEAS)

    Citations

    Citations are extracted by the CitEc Project, subscribe to its RSS feed for this item.
    as


    Cited by:

    1. 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.
    2. 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.

    Most related items

    These are the items that most often cite the same works as this one and are cited by the same works as this one.
    1. Daniel Svensson & Matilda Rentoft & Anna M Dahlin & Emma Lundholm & Pall I Olason & Andreas Sjödin & Carin Nylander & Beatrice S Melin & Johan Trygg & Erik Johansson, 2020. "A whole-genome sequenced control population in northern Sweden reveals subregional genetic differences," PLOS ONE, Public Library of Science, vol. 15(9), pages 1-18, September.
    2. Chuan Gao & Nan Wang & Xiuqing Guo & Julie T Ziegler & Kent D Taylor & Anny H Xiang & Yang Hai & Steven J Kridel & Jerry L Nadler & Fouad Kandeel & Leslie J Raffel & Yii-Der I Chen & Jill M Norris & J, 2015. "A Comprehensive Analysis of Common and Rare Variants to Identify Adiposity Loci in Hispanic Americans: The IRAS Family Study (IRASFS)," PLOS ONE, Public Library of Science, vol. 10(11), pages 1-17, November.
    3. Tian Zhou & Xinyi Zhu & Zhizhong Ye & Yong-Fei Wang & Chao Yao & Ning Xu & Mi Zhou & Jianyang Ma & Yuting Qin & Yiwei Shen & Yuanjia Tang & Zhihua Yin & Hong Xu & Yutong Zhang & Xiaoli Zang & Huihua D, 2022. "Lupus enhancer risk variant causes dysregulation of IRF8 through cooperative lncRNA and DNA methylation machinery," Nature Communications, Nature, vol. 13(1), pages 1-16, December.
    4. Paul S de Vries & Maria Sabater-Lleal & Daniel I Chasman & Stella Trompet & Tarunveer S Ahluwalia & Alexander Teumer & Marcus E Kleber & Ming-Huei Chen & Jie Jin Wang & John R Attia & Riccardo E Mario, 2017. "Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study," PLOS ONE, Public Library of Science, vol. 12(1), pages 1-22, January.
    5. Bo Jiang & Jun S. Liu, 2015. "Bayesian Partition Models for Identifying Expression Quantitative Trait Loci," Journal of the American Statistical Association, Taylor & Francis Journals, vol. 110(512), pages 1350-1361, December.
    6. Rakesh Chettier & Lesa Nelson & James W Ogilvie & Hans M Albertsen & Kenneth Ward, 2015. "Haplotypes at LBX1 Have Distinct Inheritance Patterns with Opposite Effects in Adolescent Idiopathic Scoliosis," PLOS ONE, Public Library of Science, vol. 10(2), pages 1-11, February.
    7. Michel S. Naslavsky & Marilia O. Scliar & Guilherme L. Yamamoto & Jaqueline Yu Ting Wang & Stepanka Zverinova & Tatiana Karp & Kelly Nunes & José Ricardo Magliocco Ceroni & Diego Lima Carvalho & Carlo, 2022. "Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil," Nature Communications, Nature, vol. 13(1), pages 1-11, December.
    8. Steinrücken, Matthias & Paul, Joshua S. & Song, Yun S., 2013. "A sequentially Markov conditional sampling distribution for structured populations with migration and recombination," Theoretical Population Biology, Elsevier, vol. 87(C), pages 51-61.
    9. Gaetane Nocturne & Stephan Pavy & Saida Boudaoud & Raphaèle Seror & Philippe Goupille & Philippe Chanson & Désirée van der Heijde & Floris van Gaalen & Francis Berenbaum & Xavier Mariette & Karine Bri, 2015. "Increase in Dickkopf-1 Serum Level in Recent Spondyloarthritis. Data from the DESIR Cohort," PLOS ONE, Public Library of Science, vol. 10(8), pages 1-16, August.
    10. Anshuman Sewda & A J Agopian & Elizabeth Goldmuntz & Hakon Hakonarson & Bernice E Morrow & Fadi Musfee & Deanne Taylor & Laura E Mitchell & on behalf of the Pediatric Cardiac Genomics Consortium, 2020. "Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects," PLOS ONE, Public Library of Science, vol. 15(6), pages 1-15, June.
    11. Lin Yuan & Chang-An Yuan & De-Shuang Huang, 2017. "FAACOSE: A Fast Adaptive Ant Colony Optimization Algorithm for Detecting SNP Epistasis," Complexity, Hindawi, vol. 2017, pages 1-10, September.
    12. Yuki Ishikawa & Nao Tanaka & Yoshihide Asano & Masanari Kodera & Yuichiro Shirai & Mitsuteru Akahoshi & Minoru Hasegawa & Takashi Matsushita & Kazuyoshi Saito & Sei-ichiro Motegi & Hajime Yoshifuji & , 2024. "GWAS for systemic sclerosis identifies six novel susceptibility loci including one in the Fcγ receptor region," Nature Communications, Nature, vol. 15(1), pages 1-16, December.
    13. Carl Nettelblad, 2013. "Breakdown of Methods for Phasing and Imputation in the Presence of Double Genotype Sharing," PLOS ONE, Public Library of Science, vol. 8(3), pages 1-5, March.
    14. Viinikainen, Jutta & Bryson, Alex & Böckerman, Petri & Kari, Jaana T. & Lehtimäki, Terho & Raitakari, Olli & Viikari, Jorma & Pehkonen, Jaakko, 2022. "Does better education mitigate risky health behavior? A mendelian randomization study," Economics & Human Biology, Elsevier, vol. 46(C).
    15. Cavin K Ward-Caviness & Paul S de Vries & Kerri L Wiggins & Jennifer E Huffman & Lisa R Yanek & Lawrence F Bielak & Franco Giulianini & Xiuqing Guo & Marcus E Kleber & Tim Kacprowski & Stefan Groß & A, 2019. "Mendelian randomization evaluation of causal effects of fibrinogen on incident coronary heart disease," PLOS ONE, Public Library of Science, vol. 14(5), pages 1-18, May.
    16. Cummings, F.W, 2004. "A model of morphogenesis," Physica A: Statistical Mechanics and its Applications, Elsevier, vol. 339(3), pages 531-547.
    17. Ani Manichaikul & Xin-Qun Wang & Solomon K Musani & David M Herrington & Wendy S Post & James G Wilson & Stephen S Rich & Annabelle Rodriguez, 2015. "Association of the Lipoprotein Receptor SCARB1 Common Missense Variant rs4238001 with Incident Coronary Heart Disease," PLOS ONE, Public Library of Science, vol. 10(5), pages 1-16, May.
    18. Morten Dybdahl Krebs & Gonçalo Espregueira Themudo & Michael Eriksen Benros & Ole Mors & Anders D. Børglum & David Hougaard & Preben Bo Mortensen & Merete Nordentoft & Michael J. Gandal & Chun Chieh F, 2021. "Associations between patterns in comorbid diagnostic trajectories of individuals with schizophrenia and etiological factors," Nature Communications, Nature, vol. 12(1), pages 1-12, December.
    19. Heejung Shim & Daniel I Chasman & Joshua D Smith & Samia Mora & Paul M Ridker & Deborah A Nickerson & Ronald M Krauss & Matthew Stephens, 2015. "A Multivariate Genome-Wide Association Analysis of 10 LDL Subfractions, and Their Response to Statin Treatment, in 1868 Caucasians," PLOS ONE, Public Library of Science, vol. 10(4), pages 1-20, April.
    20. Mette K Andersen & Emil Jørsboe & Line Skotte & Kristian Hanghøj & Camilla H Sandholt & Ida Moltke & Niels Grarup & Timo Kern & Yuvaraj Mahendran & Bolette Søborg & Peter Bjerregaard & Christina V L L, 2020. "The derived allele of a novel intergenic variant at chromosome 11 associates with lower body mass index and a favorable metabolic phenotype in Greenlanders," PLOS Genetics, Public Library of Science, vol. 16(1), pages 1-17, January.

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:plo:pone00:0043907. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    If CitEc recognized a bibliographic reference but did not link an item in RePEc to it, you can help with this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: plosone (email available below). General contact details of provider: https://journals.plos.org/plosone/ .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.