دورية أكاديمية
أعرض في EDS

Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.

التفاصيل البيبلوغرافية
العنوان: Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
المؤلفون: Hancock, Dana B., Soler Artigas, Maria, Gharib, Sina A., Henry, Amanda, Manichaikul, Ani, Ramasamy, Adaikalavan, Loth, Daan W., Imboden, Medea, Koch, Beate, McArdle, Wendy L., Smith, Albert V., Smolonska, Joanna, Sood, Akshay, Tang, Wenbo, Wilk, Jemma B., Zhai, Guangju, Zhao, Jing Hua, Aschard, Hugues, Burkart, Kristin M., Curjuric, Ivan, Eijgelsheim, Mark, Elliott, Paul, Gu, Xiangjun, Harris, Tamara B., Janson, Christer, Homuth, Georg, Hysi, Pirro G., Liu, Jason Z., Loehr, Laura R., Lohman, Kurt, Loos, Rurth J.F., Manning, Alisa K., Marciante, Kristin D., Obeidat, Ma'en, Postma, Dirkje S., Aldrich, Melinda C., Brusselle, Guy G., Chen, Ting-Hsu, Eiriksdottir, Gudny, Franceschini, Nora, Heinrich, Joachim, Rotter, Jerome I., Wijmenga, Cisca, Williams, O. Dale, Bentley, Amy R., Hofman, Albert, Laurie, Cathy C., Lumley, Thomas, Morrison, Alanna C., Joubert, Bonnie R., Rivadeneira, Fernando, Couper, David J., Kritchevsky, Stephen B., Liu, Yongmei, Wjst, Matthias, Wain, Louise V., Vonk, Judith M., Uitterlinden, André G., Rochat, Thierry, Rich, Stephen S., Psaty, Bruce M., O'Connor, George T., North, Karl E., Mirel, Daniel B., Meibohm, Bernd, Launer, Lenore J., Khaw, Kay-Tee, Hartikainen, Anna-Liisa, Hammond, Christopher J., Gläser, Sven, Marchini, Jonathan, Kraft, Peter, Wareham, Nicholas J., Völzke, Henry, Stricker, Bruno H.C., Spector, Timothy D., Probst-Hensch, Nicole M., Jarvis, Deborah, Jarvelin, Marjo-Riitta, Heckbert, Susan R., Gudnason, Vilmundur, Boezen, H. Marike, Barr, R. Graham, Cassano, Patricia A., Strachan, David P., Fornage, Myriam, Hall, Ian P., Dupuis, Josée, Tobin, Martin D., London, Stephanie J.
بيانات النشر: Public Library of Science
سنة النشر: 2013
المجموعة: University of Leicester: Leicester Research Archive (LRA)
مصطلحات موضوعية: Forced Expiratory Volume, Gene Expression, Genome, Human, Genome-Wide Association Study, HLA-DQ Antigens, HLA-DQ beta-Chains, Humans, Lung, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, Potassium Channels, Inwardly Rectifying, Pulmonary Disease, Chronic Obstructive, Receptors, Cell Surface, SOX9 Transcription Factor, Smoking, Vital Capacity
الوصف: Genome-wide association studies have identified numerous genetic loci for spirometic measures of pulmonary function, forced expiratory volume in one second (FEV(1)), and its ratio to forced vital capacity (FEV(1)/FVC). Given that cigarette smoking adversely affects pulmonary function, we conducted genome-wide joint meta-analyses (JMA) of single nucleotide polymorphism (SNP) and SNP-by-smoking (ever-smoking or pack-years) associations on FEV(1) and FEV(1)/FVC across 19 studies (total N = 50,047). We identified three novel loci not previously associated with pulmonary function. SNPs in or near DNER (smallest P(JMA = )5.00×10(-11)), HLA-DQB1 and HLA-DQA2 (smallest P(JMA = )4.35×10(-9)), and KCNJ2 and SOX9 (smallest P(JMA = )1.28×10(-8)) were associated with FEV(1)/FVC or FEV(1) in meta-analysis models including SNP main effects, smoking main effects, and SNP-by-smoking (ever-smoking or pack-years) interaction. The HLA region has been widely implicated for autoimmune and lung phenotypes, unlike the other novel loci, which have not been widely implicated. We evaluated DNER, KCNJ2, and SOX9 and found them to be expressed in human lung tissue. DNER and SOX9 further showed evidence of differential expression in human airway epithelium in smokers compared to non-smokers. Our findings demonstrated that joint testing of SNP and SNP-by-environment interaction identified novel loci associated with complex traits that are missed when considering only the genetic main effects. ; Peer-reviewed ; Publisher Version
نوع الوثيقة: article in journal/newspaper
اللغة: English
تدمد: 1553-7390
1553-7404
العلاقة: http://www.ncbi.nlm.nih.gov/pubmed/23284291Test; PLoS Genet, 2012, 8 (12), e1003098.; http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1003098Test; http://hdl.handle.net/2381/27984Test; PGENETICS-D-12-01649
DOI: 10.1371/journal.pgen.1003098
الإتاحة: https://doi.org/10.1371/journal.pgen.1003098Test
http://hdl.handle.net/2381/27984Test
حقوق: This is an open-access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 public domain dedication.
رقم الانضمام: edsbas.C1491BEB
قاعدة البيانات: BASE
الوصف
تدمد:15537390
15537404
DOI:10.1371/journal.pgen.1003098