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




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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.



Author: Indra Adrianto, Chee Paul Lin, Jessica J. Hale, Albert M. Levin, Indrani Datta, Ryan Parker, Adam Adler, Jennifer A. Kelly, Kenne

Source: http://plos.srce.hr/



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