Academic Journal
Effect of Muc5b promoter polymorphism on disease predisposition and survival in idiopathic interstitial pneumonias.
العنوان: | Effect of Muc5b promoter polymorphism on disease predisposition and survival in idiopathic interstitial pneumonias. |
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المؤلفون: | Vis, Joanne J., Snetselaar, Reinier, Kazemier, Karin M., Klooster, Liesbeth, Grutters, Jan C., Moorsel, Coline H.M. |
المصدر: | Respirology; May2016, Vol. 21 Issue 4, p712-717, 6p, 3 Charts, 1 Graph |
مصطلحات موضوعية: | IDIOPATHIC pulmonary fibrosis, GENETIC polymorphisms, LUNG diseases, CASE-control method, DISEASE susceptibility |
مستخلص: | Background and objective A common polymorphism in the MUC5B gene (rs35705950) is associated with susceptibility to idiopathic pulmonary fibrosis ( IPF) and familial interstitial pneumonia ( FIP). We investigated predisposition of the MUC5B polymorphism to fibrotic interstitial pneumonias in Dutch Caucasian patient cohorts. Furthermore, we investigated the correlation between MUC5B genotype and survival in these cohorts. Methods Sporadic IPF ( spIPF, n = 115), FIP ( n = 55), idiopathic non-specific interstitial pneumonia ( iNSIP, n = 43), connective tissue disease associated interstitial pneumonia ( CTD_ IP, n = 35) and a control cohort ( n = 249) were genotyped for rs35705950. Results Rs35705950 minor allele frequency ( MAF) in controls was 0.09. Case-control analysis showed significant allelic association with spIPF ( MAF = 0.27; P = 5.0 × 10−10), FIP ( MAF = 0.30; P = 2.7 × 10−9) and iNSIP ( MAF = 0.22; P = 3.4 × 10−4). No association was observed in CTD_ IP ( MAF = 0.07). FIP subgroup analysis revealed an association between MUC5B and telomerase mutated FIP ( P = 0.003), and between MUC5B and FIP with unknown genetic cause ( P = 1.2 × 10−8). In spIPF carriership of MUC5B minor allele did not influence survival. In FIP MUC5B minor allele carriers had better survival (non-carriers 37 vs carriers 53 months, P = 0.01). In iNSIP survival analysis showed an opposite effect. Worse survival was found in iNSIP patients that carried the MUC5B minor allele (non-carriers 118 vs carriers 46 months, P = 0.027) Conclusion This study showed that MUC5B minor allele predisposes to spIPF, FIP and iNSIP. In spIPF, survival is not influenced by MUC5B alleles. In FIP, MUC5B minor allele predicts better survival, pointing towards a subgroup of FIP patients with a milder, MUC5B-driven form of pulmonary fibrosis. [ABSTRACT FROM AUTHOR] |
Copyright of Respirology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
قاعدة البيانات: | Complementary Index |
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