Ontology type: schema:ScholarlyArticle Open Access: True
2015-12
AUTHORSCatherine Igartua, Rachel A. Myers, Rasika A. Mathias, Maria Pino-Yanes, Celeste Eng, Penelope E. Graves, Albert M. Levin, Blanca E. Del-Rio-Navarro, Daniel J. Jackson, Oren E. Livne, Nicholas Rafaels, Christopher K. Edlund, James J. Yang, Scott Huntsman, Muhammad T. Salam, Isabelle Romieu, Raphael Mourad, James E. Gern, Robert F. Lemanske, Annah Wyss, Jane A. Hoppin, Kathleen C. Barnes, Esteban G. Burchard, W. James Gauderman, Fernando D. Martinez, Benjamin A. Raby, Scott T. Weiss, L. Keoki Williams, Stephanie J. London, Frank D. Gilliland, Dan L. Nicolae, Carole Ober
ABSTRACTCommon variants at many loci have been robustly associated with asthma but explain little of the overall genetic risk. Here we investigate the role of rare (<1%) and low-frequency (1-5%) variants using the Illumina HumanExome BeadChip array in 4,794 asthma cases, 4,707 non-asthmatic controls and 590 case-parent trios representing European Americans, African Americans/African Caribbeans and Latinos. Our study reveals one low-frequency missense mutation in the GRASP gene that is associated with asthma in the Latino sample (P=4.31 × 10(-6); OR=1.25; MAF=1.21%) and two genes harbouring functional variants that are associated with asthma in a gene-based analysis: GSDMB at the 17q12-21 asthma locus in the Latino and combined samples (P=7.81 × 10(-8) and 4.09 × 10(-8), respectively) and MTHFR in the African ancestry sample (P=1.72 × 10(-6)). Our results suggest that associations with rare and low-frequency variants are ethnic specific and not likely to explain a significant proportion of the 'missing heritability' of asthma. More... »
PAGES5965
http://scigraph.springernature.com/pub.10.1038/ncomms6965
DOIhttp://dx.doi.org/10.1038/ncomms6965
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PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/25591454
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