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Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility.

التفاصيل البيبلوغرافية
العنوان: Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility.
المؤلفون: 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
المصدر: PLoS ONE, Vol 7, Iss 8, p e43907 (2012)
بيانات النشر: Public Library of Science (PLoS), 2012.
سنة النشر: 2012
المجموعة: LCC:Medicine
LCC:Science
مصطلحات موضوعية: Medicine, Science
الوصف: 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, P(AA-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.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1932-6203
Relation: http://europepmc.org/articles/PMC3428296?pdf=render; https://doaj.org/toc/1932-6203
DOI: 10.1371/journal.pone.0043907
URL الوصول: https://doaj.org/article/cd17fb0999dc43b68e078bac4cdc10ad
رقم الأكسشن: edsdoj.17fb0999dc43b68e078bac4cdc10ad
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:19326203
DOI:10.1371/journal.pone.0043907