MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease

被引：412

作者：

Juge, P. -A. ^{[1
,6
,7
]}

Lee, J. S. ^{[31
]}

Ebstein, E. ^{[1
]}

Furukawa, H. ^{[35
,36
]}

Dobrinskikh, E. ^{[31
]}

Gazal, S. ^{[37
,39
]}

Kannengiesser, C. ^{[2
,6
]}

Ottaviani, S. ^{[1
]}

Oka, S. ^{[35
,36
]}

Tohma, S. ^{[36
]}

Tsuchiya, N. ^{[35
]}

Rojas-Serrano, J. ^{[40
]}

Gonzalez-Perez, M. I. ^{[40
]}

Mejia, M. ^{[40
]}

Buendia-Roldan, I. ^{[40
]}

Falfan-Valencia, R. ^{[41
]}

Ambrocio-Ortiz, E. ^{[41
]}

Manali, E. ^{[42
]}

Papiris, S. A. ^{[42
]}

Karageorgas, T. ^{[43
]}

Boumpas, D. ^{[43
]}

Antoniou, K. ^{[44
,45
]}

van Moorsel, C. H. M. ^{[46
]}

van der Vis, J. ^{[46
]}

de Man, Y. A. ^{[46
]}

Grutters, J. C. ^{[46
]}

Wang, Y. ^{[47
]}

Borie, R. ^{[3
,6
]}

Wemeau-Stervinou, L. ^{[15
]}

Wallaert, B. ^{[15
]}

Flipo, R. -M. ^{[16
]}

Nunes, H. ^{[17
]}

Valeyre, D. ^{[17
]}

Saidenberg-Kermanac'h, N. ^{[18
,19
,20
]}

Boissier, M. -C. ^{[18
,19
,20
]}

Marchand-Adam, S. ^{[21
]}

Frazier, A. ^{[8
]}

Richette, P. ^{[8
]}

Allanore, Y. ^{[9
,10
]}

Sibilia, J. ^{[22
,23
]}

Dromer, C. ^{[24
]}

Richez, C. ^{[25
,26
,27
]}

Schaeverbeke, T. ^{[25
,26
,27
]}

Liote, H. ^{[11
]}

Thabut, G. ^{[4
,6
]}

Nathan, N. ^{[12
,13
]}

Amselem, S. ^{[12
,13
,14
]}

Soubrier, M. ^{[28
]}

Cottin, V. ^{[29
,30
]}

Clement, A. ^{[12
,13
]}

机构：

[1] Hop Bichat Claude Bernard, AP HP, Dept Rheumatol, Paris, France

[2] Hop Bichat Claude Bernard, AP HP, Dept Genet, Paris, France

[3] Hop Bichat Claude Bernard, AP HP, Dept Pulmonol A, Paris, France

[4] Hop Bichat Claude Bernard, AP HP, Dept Pulmonol B, Paris, France

[5] Hop Bichat Claude Bernard, AP HP, Dept Radiol, Paris, France

[6] Univ Paris Diderot, Dept Hosp Univ Fibrose Inflammat Remodelage, INSERM, UMR 1152, Paris, France

[7] Arthrit Rech & Dev, Paris, France

[8] Hop Lariboisiere, AP HP, Serv Rhumatol, Paris, France

[9] Hop Cochin, AP HP, Serv Rhumatol A, Paris, France

[10] INSERM, Unite 1016, UMR 8104, Paris, France

[11] Hop Tenon, AP HP, Serv Pneumol, Paris, France

[12] Ctr Reference Malad Resp Rares, AP HP, Serv Pneumol Pediat, Paris, France

[13] INSERM, UMR S933, Paris, France

[14] Hop Trousseau, AP HP, Dept Genet, Paris, France

[15] Ctr Hosp Reg Univ CHRULille, Serv Pneumol & Immuno Allergol, Ctr Competence Malad Pulm Rares, Federatif Hosp Univ Immune Mediated Inflammatory, Lille, France

[16] Ctr Hosp Univ CHU Lille, Serv Rhumatol, Lille, France

[17] Hop Avicenne, AP HP, Dept Pulmonol, INSERM,UMR 1125, Bobigny, France

[18] Hop Avicenne, AP HP, Dept Rheumatol, INSERM,UMR 1125, Bobigny, France

[19] Hop Avicenne, AP HP, INSERM, UMR 1125, Bobigny, France

[20] Univ Paris 13, Sorbonne Paris Cite, Bobigny, France

[21] CHRU Tours, Dept Pulmonol, Tours, France

[22] Univ Strasbourg, Serv Rhumatol, Hop Hautepierre, INSERM,UMR S1109,CHRU Strasbourg, Strasbourg, France

[23] Univ Strasbourg, Lab Immunorhumatol Mol, Ctr Rech Hist Idees, Federat Med Translat Strasbourg, Strasbourg, France

[24] CHU Bordeaux, Serv Pneumol, Bordeaux, France

[25] CHU Bordeaux, Serv Rhumatol, Bordeaux, France

[26] CHU Bordeaux, Bordeaux, France

[27] CNRS, ImmunoConcEpT, UMR 5164, Bordeaux, France

[28] CHU Clermont Ferrand, Serv Rhumatol, Ctr Rech Nutr Humaine Auvergne, INRA,UMR 1019,Unite Nutr Humaine, Clermont Ferrand, France

[29] Univ Claude Bernard Lyon 1, Hosp Civils Lyon, Hop Louis Pradel, Ctr Natl Reference Malad Pulm Rares, Lyon, France

[30] Univ Claude Bernard Lyon 1, INRA, UMR 754, Lyon, France

[31] Univ Colorado, Dept Med, Sch Med, Aurora, CO USA

[32] Univ Colorado, Dept Immunol & Microbiol, Sch Med, Aurora, CO USA

[33] Natl Jewish Hlth, Dept Biomed Res, Denver, CO USA

[34] Natl Jewish Hlth, Dept Med, Denver, CO USA

[35] Univ Tsukuba, Mol & Genet Epidemiol Lab, Fac Med, Tsukuba, Ibaraki, Japan

[36] Natl Hosp Org Sagamihara Natl Hosp, Clin Res Ctr Allergy & Rheumatol, Sagamihara, Kanagawa, Japan

[37] Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA USA

[38] Brigham & Womens Hosp, Dept Med, 75 Francis St, Boston, MA 02115 USA

[39] Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA USA

[40] Inst Nacl Enfermedades Resp Ismael Cosio, Interstitial Lung Dis & Rheumatol Unit, Mexico City, DF, Mexico

[41] Inst Nacl Enfermedades Resp Ismael Cosio, HLA Lab, Mexico City, DF, Mexico

[42] Natl & Kapodistrian Univ Athens, Pulm Med Dept 2, Univ Hosp Athens Attikon, Athens, Greece

[43] Natl & Kapodistrian Univ Athens, Rheumatol & Clin Immunol Unit, Dept Internal Med 4, Univ Hosp Athens Attikon, Athens, Greece

[44] Univ Crete, Dept Resp Med, Fac Med, Iraklion, Greece

[45] Univ Crete, Lab Mol & Cellular Pneumonol, Fac Med, Iraklion, Greece

[46] St Antonius Hosp, St Antonius ILD Ctr Excellence, Nieuwegein, Netherlands

[47] Nanjing Univ, Dept Med Genet, Sch Med, Nanjing, Jiangsu, Peoples R China

[48] Mayo Clin, Div Pulm & Crit Care Med, Coll Med & Sci, Rochester, MN USA

[49] Mayo Clin, Div Rheumatol, Coll Med & Sci, Rochester, MN USA

[50] NYU, Colton Ctr Autoimmun, Sch Med, New York, NY USA

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2018年 / 379卷 / 23期

基金：

美国国家卫生研究院;

关键词：

IDIOPATHIC PULMONARY-FIBROSIS; POLYMORPHISM; ASSOCIATION; MORTALITY; SUSCEPTIBILITY; CLASSIFICATION; PREDICTORS; PNEUMONIA; CRITERIA; COHORT;

D O I：

10.1056/NEJMoa1801562

中图分类号：

R5 [内科学];

学科分类号：

100201 [内科学];

摘要：

BACKGROUND Given the phenotypic similarities between rheumatoid arthritis (RA)-associated interstitial lung disease (ILD) (hereafter, RA-ILD) and idiopathic pulmonary fibrosis, we hypothesized that the strongest risk factor for the development of idiopathic pulmonary fibrosis, the gain-of-function MUC5B promoter variant rs35705950, would also contribute to the risk of ILD among patients with RA. METHODS Using a discovery population and multiple validation populations, we tested the association of the MUC5B promoter variant rs35705950 in 620 patients with RA-ILD, 614 patients with RA without ILD, and 5448 unaffected controls. RESULTS Analysis of the discovery population revealed an association of the minor allele of the MUC5B promoter variant with RA-ILD when patients with RA-ILD were compared with unaffected controls (adjusted odds ratio, 3.8; 95% confidence interval [CI], 2.8 to 5.2; P = 9.7x10(-17)). The MUC5B promoter variant was also significantly overrepresented among patients with RA-ILD, as compared with unaffected controls, in an analysis of the multiethnic case series (adjusted odds ratio, 5.5; 95% CI, 4.2 to 7.3; P = 4.7x10(-35)) and in a combined analysis of the discovery population and the multiethnic case series (adjusted odds ratio, 4.7; 95% CI, 3.9 to 5.8; P = 1.3x10(-49)). In addition, the MUC5B promoter variant was associated with an increased risk of ILD among patients with RA (adjusted odds ratio in combined analysis, 3.1; 95% CI, 1.8 to 5.4; P = 7.4x10(-5)), particularly among those with evidence of usual interstitial pneumonia on high-resolution computed tomography (adjusted odds ratio in combined analysis, 6.1; 95% CI, 2.9 to 13.1; P = 2.5x10(-6)). However, no significant association with the MUC5B promoter variant was observed for the diagnosis of RA alone. CONCLUSIONS We found that the MUC5B promoter variant was associated with RA-ILD and more specifically associated with evidence of usual interstitial pneumonia on imaging.

引用

页码：2209 / 2219

页数：11

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