Impact of MIF Gene Promoter Polymorphism on F508del Cystic Fibrosis Patients
Publication Date
December 12, 2014
Journal
PLOS ONE
Authors
Paola Melotti, Andrea Mafficini, Patrick Lebecque, Myriam Ortombina, et al
Volume
9
Issue
12
Pages
e114274
DOI
https://dx.plos.org/10.1371/journal.pone.0114274
Publisher URL
http://journals.plos.org/plosone/article?id=10.1371%2Fjournal.pone.0114274
PubMed
http://www.ncbi.nlm.nih.gov/pubmed/25503271
PubMed Central
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4264759
Europe PMC
http://europepmc.org/abstract/MED/25503271
Web of Science
000346375400024
Scopus
84918836365
Mendeley
http://www.mendeley.com/research/impact-mif-gene-promoter-polymorphism-f508del-cystic-fibrosis-patients
Events
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Mendeley | Further Information

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Scopus | Further Information

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/1841622", "https://ndownloader.figshare.com/files/1841623"], "description"=>"<div><p>Macrophage migration Inhibitory Factor (MIF) is a pro-inflammatory cytokine sustaining the acute response to gram–negative bacteria and a regulatory role for MIF in Cystic Fibrosis has been suggested by the presence of a functional, polymorphic, four-nucleotide repeat in this gene's promoter at position −794, with the 5-repeat allele displaying lower promoter activity. We aimed at assessing the association of this polymorphism with disease severity in a group of Cystic Fibrosis patients homozygous for F508del <i>CFTR</i> gene mutation. Genotype frequencies were determined in 189 Cystic Fibrosis and 134 control subjects; key clinical features of patients were recorded and compared among homozygous 5-allele patients and the other <i>MIF</i> genotypes. Patients homozygous for the 5-repeat allele of <i>MIF</i> promoter displayed a slower rate of lung function decline (p = 0.027) at multivariate survival analysis. Multiple regression analysis on age-normalized respiratory volume showed no association of the homozygous 5-repeat genotype with lung function under stable conditions and no correlation with <i>P.aeruginosa</i> chronic colonization. Therefore, only the Homozygous 5-repeat genotype at <i>MIF</i> −794 is associated with milder disease in F508del Cystic Fibrosis patients.</p></div>", "links"=>[], "tags"=>["lung function", "disease severity", "F 508del CFTR gene mutation", "allele", "promoter activity", "Multiple regression analysis", "F 508del Cystic Fibrosis patients", "genotype frequencies", "MIF genotypes", "134 control subjects", "Cystic Fibrosis Patients", "189 Cystic Fibrosis", "F 508del Cystic Fibrosis Patients Macrophage migration Inhibitory Factor", "cystic fibrosis", "MIF Gene Promoter Polymorphism", "lung function decline", "multivariate survival analysis", "MIF promoter"], "article_id"=>1269481, "categories"=>["Biological Sciences"], "users"=>["Paola Melotti", "Andrea Mafficini", "Patrick Lebecque", "Myriam Ortombina", "Teresinha Leal", "Emily Pintani", "Xavier Pepermans", "Claudio Sorio", "Baroukh Maurice Assael"], "doi"=>["https://dx.doi.org/10.1371/journal.pone.0114274.s001", "https://dx.doi.org/10.1371/journal.pone.0114274.s002"], "stats"=>{"downloads"=>0, "page_views"=>18, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Impact_of_MIF_Gene_Promoter_Polymorphism_on_F508del_Cystic_Fibrosis_Patients/1269481", "title"=>"Impact of <i>MIF</i> Gene Promoter Polymorphism on F508del Cystic Fibrosis Patients", "pos_in_sequence"=>0, "defined_type"=>4, "published_date"=>"2014-12-12 02:49:38"}
  • {"files"=>["https://ndownloader.figshare.com/files/1841620"], "description"=>"<p>Number of patients with acute episode  = 119</p><p>Number of censored patients = 66</p><p>Overall significance p-value  = 0.0010</p><p>MIF-CATT genotype: <i>MIF</i> gene -CATT repeat genotype at position −794</p><p>95% CI  = 95% Confidence Interval</p><p>Cox regression analysis for age at first acute episode with FEV1 <60% of predicted value on 185 Cystic Fibrosis patients homozygous for the F508del mutation.</p>", "links"=>[], "tags"=>["lung function", "disease severity", "F 508del CFTR gene mutation", "allele", "promoter activity", "Multiple regression analysis", "F 508del Cystic Fibrosis patients", "genotype frequencies", "MIF genotypes", "134 control subjects", "Cystic Fibrosis Patients", "189 Cystic Fibrosis", "F 508del Cystic Fibrosis Patients Macrophage migration Inhibitory Factor", "cystic fibrosis", "MIF Gene Promoter Polymorphism", "lung function decline", "multivariate survival analysis", "MIF promoter"], "article_id"=>1269479, "categories"=>["Biological Sciences"], "users"=>["Paola Melotti", "Andrea Mafficini", "Patrick Lebecque", "Myriam Ortombina", "Teresinha Leal", "Emily Pintani", "Xavier Pepermans", "Claudio Sorio", "Baroukh Maurice Assael"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0114274.t003", "stats"=>{"downloads"=>0, "page_views"=>17, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Cox_regression_analysis_for_age_at_first_acute_episode_with_FEV1_lt_60_of_predicted_value_on_185_Cystic_Fibrosis_patients_homozygous_for_the_F508del_mutation_/1269479", "title"=>"Cox regression analysis for age at first acute episode with FEV1 <60% of predicted value on 185 Cystic Fibrosis patients homozygous for the F508del mutation.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-12-12 02:49:38"}
  • {"files"=>["https://ndownloader.figshare.com/files/1841621"], "description"=>"<p>Overall R<sup>2</sup> = 0.274; multiple correlation coefficient  = 0.524</p><p>Overall significance p-value<0.0001;</p><p>FEV1: forced expiratory volume in one second; cc by PA: chronic colonization by <i>P. aeruginosa</i>. MIF-CATT genotype: <i>MIF</i> gene -CATT repeat genotype at position -794</p><p>*CF specific percentile according to Kulich <i>et al</i>, <i>Am J Respir Crit Care Med</i>, 2005.</p><p>Multiple regression analysis of FEV1 (Kulich)<sup><a href=\"http://www.plosone.org/article/info:doi/10.1371/journal.pone.0114274#nt113\" target=\"_blank\">*</a></sup> data on 189 Cystic Fibrosis patients homozygous for the F508del mutation.</p>", "links"=>[], "tags"=>["lung function", "disease severity", "F 508del CFTR gene mutation", "allele", "promoter activity", "Multiple regression analysis", "F 508del Cystic Fibrosis patients", "genotype frequencies", "MIF genotypes", "134 control subjects", "Cystic Fibrosis Patients", "189 Cystic Fibrosis", "F 508del Cystic Fibrosis Patients Macrophage migration Inhibitory Factor", "cystic fibrosis", "MIF Gene Promoter Polymorphism", "lung function decline", "multivariate survival analysis", "MIF promoter"], "article_id"=>1269480, "categories"=>["Biological Sciences"], "users"=>["Paola Melotti", "Andrea Mafficini", "Patrick Lebecque", "Myriam Ortombina", "Teresinha Leal", "Emily Pintani", "Xavier Pepermans", "Claudio Sorio", "Baroukh Maurice Assael"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0114274.t004", "stats"=>{"downloads"=>2, "page_views"=>17, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Multiple_regression_analysis_of_FEV1_Kulich_data_on_189_Cystic_Fibrosis_patients_homozygous_for_the_F508del_mutation_/1269480", "title"=>"Multiple regression analysis of FEV1 (Kulich)<sup>*</sup> data on 189 Cystic Fibrosis patients homozygous for the F508del mutation.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-12-12 02:49:38"}
  • {"files"=>["https://ndownloader.figshare.com/files/1841617"], "description"=>"<p>Data are presented as mean and 95% Confidence Interval (95% CI). FEV1: forced expiratory volume in one second; BMI: body mass index; cc by PA: chronic colonization by <i>P. aeruginosa</i>.</p><p>* CF specific percentile according to Kulich <i>et al</i>, <i>Am J Respir Crit Care Med</i>, 2005.</p><p>Clinical data of 187 Cystic Fibrosis patients homozygous for the F508del mutation according to the genotype for the <i>MIF</i> gene -CATT repeat at position −794.</p>", "links"=>[], "tags"=>["lung function", "disease severity", "F 508del CFTR gene mutation", "allele", "promoter activity", "Multiple regression analysis", "F 508del Cystic Fibrosis patients", "genotype frequencies", "MIF genotypes", "134 control subjects", "Cystic Fibrosis Patients", "189 Cystic Fibrosis", "F 508del Cystic Fibrosis Patients Macrophage migration Inhibitory Factor", "cystic fibrosis", "MIF Gene Promoter Polymorphism", "lung function decline", "multivariate survival analysis", "MIF promoter"], "article_id"=>1269478, "categories"=>["Biological Sciences"], "users"=>["Paola Melotti", "Andrea Mafficini", "Patrick Lebecque", "Myriam Ortombina", "Teresinha Leal", "Emily Pintani", "Xavier Pepermans", "Claudio Sorio", "Baroukh Maurice Assael"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0114274.t002", "stats"=>{"downloads"=>3, "page_views"=>22, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Clinical_data_of_187_Cystic_Fibrosis_patients_homozygous_for_the_F508del_mutation_according_to_the_genotype_for_the_MIF_gene_CATT_repeat_at_position_794_/1269478", "title"=>"Clinical data of 187 Cystic Fibrosis patients homozygous for the F508del mutation according to the genotype for the <i>MIF</i> gene -CATT repeat at position −794.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-12-12 02:49:38"}
  • {"files"=>["https://ndownloader.figshare.com/files/1841613"], "description"=>"<p>Kaplan-Meier plots relative to age at first acute episode with FEV1 <60% of predicted value. (A) Comparison between patients with MIF 5-5 (homozygous 5-CATT repeats) vs. not 5-5 genotype; (B) comparison between patients with at least one 5-CATT allele vs. the others. Ticks indicate censored subjects follow-up times. “Number at risk” at the bottom indicates the number of patients without acute episodes at a given time interval and whose follow- up extends at least that far into the curve.</p>", "links"=>[], "tags"=>["lung function", "disease severity", "F 508del CFTR gene mutation", "allele", "promoter activity", "Multiple regression analysis", "F 508del Cystic Fibrosis patients", "genotype frequencies", "MIF genotypes", "134 control subjects", "Cystic Fibrosis Patients", "189 Cystic Fibrosis", "F 508del Cystic Fibrosis Patients Macrophage migration Inhibitory Factor", "cystic fibrosis", "MIF Gene Promoter Polymorphism", "lung function decline", "multivariate survival analysis", "MIF promoter"], "article_id"=>1269475, "categories"=>["Biological Sciences"], "users"=>["Paola Melotti", "Andrea Mafficini", "Patrick Lebecque", "Myriam Ortombina", "Teresinha Leal", "Emily Pintani", "Xavier Pepermans", "Claudio Sorio", "Baroukh Maurice Assael"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0114274.g001", "stats"=>{"downloads"=>0, "page_views"=>18, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Lung_function_decline_in_185_Cystic_Fibrosis_patients_grouped_according_to_MIF_794_CATT_genotypes_/1269475", "title"=>"Lung function decline in 185 Cystic Fibrosis patients grouped according to <i>MIF</i> -794 CATT genotypes.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2014-12-12 02:49:38"}
  • {"files"=>["https://ndownloader.figshare.com/files/1841614"], "description"=>"<p>Continuous data are presented as mean ± SD unless otherwise stated; categorical data are presented as counts and proportions. FEV1: forced expiratory volume in one second; cc by PA: chronic colonization by <i>P. aeruginosa.</i> The most recent FEV1 was used for each patient. MIF-CATT: <i>MIF</i> gene -CATT repeat genotype at position -794</p><p>* CF specific percentile according to Kulich <i>et al</i>, <i>Am J Respir Crit Care Med</i>, 2005.</p><p>Characteristics of 189 Cystic Fibrosis patients homozygous for the F508del mutation recruited from 2 different European centers.</p>", "links"=>[], "tags"=>["lung function", "disease severity", "F 508del CFTR gene mutation", "allele", "promoter activity", "Multiple regression analysis", "F 508del Cystic Fibrosis patients", "genotype frequencies", "MIF genotypes", "134 control subjects", "Cystic Fibrosis Patients", "189 Cystic Fibrosis", "F 508del Cystic Fibrosis Patients Macrophage migration Inhibitory Factor", "cystic fibrosis", "MIF Gene Promoter Polymorphism", "lung function decline", "multivariate survival analysis", "MIF promoter"], "article_id"=>1269476, "categories"=>["Biological Sciences"], "users"=>["Paola Melotti", "Andrea Mafficini", "Patrick Lebecque", "Myriam Ortombina", "Teresinha Leal", "Emily Pintani", "Xavier Pepermans", "Claudio Sorio", "Baroukh Maurice Assael"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0114274.t001", "stats"=>{"downloads"=>0, "page_views"=>23, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Characteristics_of_189_Cystic_Fibrosis_patients_homozygous_for_the_F508del_mutation_recruited_from_2_different_European_centers_/1269476", "title"=>"Characteristics of 189 Cystic Fibrosis patients homozygous for the F508del mutation recruited from 2 different European centers.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-12-12 02:49:38"}

PMC Usage Stats | Further Information

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  • {"unique-ip"=>"1", "full-text"=>"0", "pdf"=>"1", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2020", "month"=>"4"}

Relative Metric

{"start_date"=>"2014-01-01T00:00:00Z", "end_date"=>"2014-12-31T00:00:00Z", "subject_areas"=>[{"subject_area"=>"/Biology and life sciences/Developmental biology", "average_usage"=>[285]}, {"subject_area"=>"/Biology and life sciences/Genetics", "average_usage"=>[306, 482]}, {"subject_area"=>"/Medicine and health sciences/Inflammatory diseases", "average_usage"=>[261, 415]}, {"subject_area"=>"/Medicine and health sciences/Metabolic disorders", "average_usage"=>[252, 402]}]}
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