NDLI: AGER -429T/C Is Associated with an Increased Lung Disease Severity in Cystic Fibrosis

Content Provider	PubMed Central
Author	Julie, Beucher Boëlle, Pierre-yves Busson, Pierre-françois Céline, Muselet-charlier Clement, Annick Harriet, Corvol Abely, M. Belleguic, C. Bellon, G. Bessaci, K. Bonnel, A. S. Brémont, F. Brouard, J. Bui, S. Chiron, R. Chumbi-flores, R. Clement, A. Corvol, H. Dalphin, J. C. Dalphin, M. L. David, V. Miranda, S. De Derelle, J. Domblides, P. Dominique, S. Dubus, J. C. Durieu, I. Dury, S. Ellaffi, M. Epaud, R. Fanton, A. Fayon, M. Fleurence, E. Foucaud, P. Ginies, J. L. Godbert, B. Grenet, D. Guillot, M. Héraud, M. C. Housset, B. Hubert, D. Huet, F. Kessler, R. Labbé, A. Laurans, M. Bourgeois, M. Le Roux, P. Le Llerena, C. Loeuille, G. A. Marguet, C. Mely, L. Moisan-petit, V. Munck, A. Murris-espin, M. Josserand, R. Nove Pautard, J. C. Pin, I. Pramil, S. Prevotat, A. Rault, G. Reix, P. Remus, N. Renouil, M. Reynaud-gaubert, M. Richaud, Thiriez B. Roussey, M. Sermet-gaudelus, I. Stremler, N. Uffredi, M. L. Urban, T. Vigneron, P. Wallaert, B. Weiss, L.
Editor	Lo, Anthony W. I.
Copyright Year	2012
Abstract	The clinical course of cystic fibrosis (CF) varies between patients bearing identical CFTR mutations, suggesting the involvement of modifier genes. We assessed the association of lung disease severity with the variant AGER -429 T/C, coding for RAGE, a pro-inflammatory protein, in CF patients from the French CF Gene Modifier Study. We analyzed the lung function of 967 CF patients p.Phe508del homozygous. FEV1 was analyzed as CF-specific percentile adjusted on age, height and mortality. AGER -429T/C polymorphism was genotyped and its function was evaluated in vitro by measurement of the luciferase activity. AGER -429 minor allele (C) was associated with poorer lung function (p = 0.03). In vitro, the promoter activity was higher in cells transfected with AGER -429C compared to cells transfected with the AGER -429T allele (p = 0.016 in BEAS-2B cells). AGER seems to be a modifier gene of lung disease severity in CF, and could be an interesting biomarker of CF airway inflammation. The functional promoter AGER -429C variant is associated with an increased RAGE expression that can lead to an increased lung inflammation and a more severe lung disease.
Related Links	http://dx.doi.org/10.1371/journal.pone.0041913
Starting Page	41913
File Format	PDF
ISSN	19326203
e-ISSN	19326203
Journal	PLoS ONE
Issue Number	7
Volume Number	7
Language	English
Publisher	Public Library of Science
Publisher Date	2012-07-30
Access Restriction	Open
Rights Holder	Public Library of Science
Subject Keyword	Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
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3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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