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Utilizing JHLB samples for DNA and RNA phenotyping

Sep 5, 2017

The preservation of the molecular components of the lung samples has enabled the understanding of pathophysiological mechanisms which contribute to chronic lung disease through candidate gene studies, genome-wide association studies (GWAS), eQTL analyses (expression quantitative trait localization), whole-genome expression and epigenetic studies (1-4)

  1. Hao K, Bossé Y, Nickle DC, Paré PD, Postma DS, Laviolette M, Sandford A, Hackett TL, Daley D, Hogg JC, Elliott WM, Couture C, Lamontagne M, Brandsma CA, van den Berge M, Koppelman G, Reicin AS, Nicholson DW, Malkov V, Derry JM, Suver C, Tsou JA, Kulkarni A, Zhang C, Vessey R, Opiteck GJ, Curtis SP, Timens W, Sin DD. Lung eQTLs to help reveal the molecular underpinnings of asthma. PLoS Genet 2012; 8: e1003029.
  2. Obeidat M, Hao K, Bossé Y, Nickle DC, Nie Y, Postma DS, Laviolette M, Sandford AJ, Daley DD, Hogg JC, Elliott WM, Fishbane N, Timens W, Hysi PG, Kaprio J, Wilson JF, Hui J, Rawal R, Schulz H, Stubbe B, Hayward C, Polasek O, Järvelin MR, Zhao JH, Jarvis D, Kähönen M, Franceschini N, North KE, Loth DW, Brusselle GG, Smith AV, Gudnason V, Bartz TM, Wilk JB, O’Connor GT, Cassano PA, Tang W, Wain LV, Soler Artigas M, Gharib SA, Strachan DP, Sin DD, Tobin MD, London SJ, Hall IP, Paré PD. Molecular mechanisms underlying variations in lung function: a systems genetics analysis. Lancet Respir Med 2015; 3: 782-795.
  3. Obeidat M, Nie Y, Fishbane N, Li X, Bossé Y, Joubert P, Nickle DC, Hao K, Postma DS, Timens W, Sze MA, Shannon CP, Hollander Z, Ng RT, McManus B, Miller BE, Rennard S, Spira A, Hackett TL, Lam W, Lam S, Faner R, Agusti A, Hogg JC, Sin DD, Paré PD. Integrative Genomics of Emphysema-Associated Genes Reveals Potential Disease Biomarkers. Am J Respir Cell Mol Biol 2017; 57: 411-418.
  4. Aminuddin F, Hackett TL, Stefanowicz D, Saferali A, Paré PD, Gulsvik A, Bakke P, Cho MH, Litonjua A, Lomas DA, Anderson WH, Beaty TH, Silverman EK, Sandford AJ. Nitric oxide synthase polymorphisms, gene expression and lung function in chronic obstructive pulmonary disease. BMC Pulm Med 2013; 13: 64.