Ethnic-specific associations of rare and low-frequency DNA sequence variants with asthma

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Ethnic-specific associations of rare and low-frequency DNA sequence variants with asthma

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Title: Ethnic-specific associations of rare and low-frequency DNA sequence variants with asthma
Author: Igartua, Catherine; Myers, Rachel A.; Mathias, Rasika A.; Pino-Yanes, Maria; Eng, Celeste; Graves, Penelope E.; Levin, Albert M.; Del-Rio-Navarro, Blanca E.; Jackson, Daniel J.; Livne, Oren E.; Rafaels, Nicholas; Edlund, Christopher K.; Yang, James J.; Huntsman, Scott; Salam, Muhammad T.; Romieu, Isabelle; Mourad, Raphael; Gern, James E.; Lemanske, Robert F.; Wyss, Annah; Hoppin, Jane A.; Barnes, Kathleen C.; Burchard, Esteban G.; Gauderman, W. James; Martinez, Fernando D.; Raby, Benjamin A.; Weiss, Scott T.; Williams, L. Keoki; London, Stephanie J.; Gilliland, Frank D.; Nicolae, Dan L.; Ober, Carole

Note: Order does not necessarily reflect citation order of authors.

Citation: Igartua, C., R. A. Myers, R. A. Mathias, M. Pino-Yanes, C. Eng, P. E. Graves, A. M. Levin, et al. 2015. “Ethnic-specific associations of rare and low-frequency DNA sequence variants with asthma.” Nature Communications 6 (1): 5965. doi:10.1038/ncomms6965. http://dx.doi.org/10.1038/ncomms6965.
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Abstract: Common 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.
Published Version: doi:10.1038/ncomms6965
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4309441/pdf/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:14065343
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