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Tell Me More. More About Us. This results in the excessive deposition of collagen and other extracellular matrix components within the lung interstitium, which promotes the progressive loss of alveolar and interstitial [ 7 , 8 ] architecture, impaired gas exchange, and respiratory failure. Despite recent therapeutic advances, IPF remains refractory to pharmacologic therapy and is invariably fatal with amedian survival of years. The single-nucleotide polymorphism SNP rs is located 3 kb upstream of the MUC5B transcription start site on the gene encoding the Mucin 5 subtype B, which is a gel-forming mucin and a major component of mucus in the respiratory tract [ 9 , 10 ].

Seibold et al. The polymorphism of the MUC5B gene has a profound effect on the risk of familial interstitial pneumonia and sporadic IPF in the American population [ 11 , 12 ] and was recently confirmed in 2 genome wide association studies [ 4 , 13 ]. Interestingly a trend was observed by Stock and colleagues between the MUC5B variant and slower decline in forced vital capacity, whereas no difference was evidenced in this cohort regarding age or severity at diagnosis between carriers or non carriers of the T allele risk [ 14 ].

Borie et al. However, recent gene association studies in the Caucasian population also confirmed an association with IPF but a lack of association with systemic sclerosis-ILD or sarcoidosis [ 14 - 16 ].

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The exact role of the polymorphism rs in IPF pathophysiology remains to be determined, Seibold et al. MUC5B is the major gel-forming mucin in the normal distal airway epithelium. Indeed, the carriage of the T allele was found associated with a 37 fold increased expression of MUC5B gene in the lung in unaffected subjects [ 11 ], and with a fold increased expression in IPF patients when compared to controls [ 14 ]. Also in contrast to chronic obstructive pulmonary disease, MUC5B was found the predominant mucin in the abnormal mucus cells in patients with IPF [ 18 , 19 ], which may be related to the abnormal differentiation of the respiratory epithelium.

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MUC5B may interfere with the normal repair process of the alveolar epithelium. For example, MUC5B overexpression introduces an aggressive behavior of breast cancer MCF7 cells, like increased proliferation and invasion in vitro [ 20 ]. There are some limitations in this study.

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First, the sample size is relatively small. Given the infrequency of the T allele of rs, further investigations with larger number of subjects are needed for further validation. Second, there are distinctions in smoking histories between patients and health controls. Third, it is only an observation study with limited evidence level, and no functional study is performed.

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Despite these limitations, the results from our study are important in that we can successfully validate the association between the MUC5B polymorphism and IPF susceptibility and severity in the Chinese Han population. In conclusion, data from this study demonstrated that the MUC5B polymorphism rs is associated with increased risk of idiopathic pulmonary fibrosis susceptibility, severity, and the decreased overall survival. Front Cell Dev Biol , , 30 Jun Expert Rev Respir Med , 13 1 , 17 Dec Cited by: 5 articles PMID: Matrix Biol , , 19 Mar Review Free to read.

Curr Opin Pulm Med , 23 3 , 01 May Cited by: 3 articles PMID: Transl Oncol , 10 2 , 09 Feb This data has been text mined from the article, or deposited into data resources. To arrive at the top five similar articles we use a word-weighted algorithm to compare words from the Title and Abstract of each citation.

Medicine Baltimore , 94 43 :e, 01 Oct Respirology , 21 4 , 24 Dec Cited by: 12 articles PMID: JAMA , 21 , 01 Jun Inflamm Res , 64 6 , 30 Apr Cited by: 6 articles PMID: PLoS One , 8 8 :e, 05 Aug Coronavirus: Find the latest articles and preprints.

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    Yang L 3 ,. Search articles by 'Yuguo Chen'. Chen Y 4. Affiliations 1 author 1. Share this article Share with email Share with twitter Share with linkedin Share with facebook. A total of patients diagnosed with IPF and healthy controls were enrolled in this study. This study demonstrated that the MUC5B polymorphism rs is associated with increased risk of idiopathic pulmonary fibrosis susceptibility, severity, and the decreased overall survival.

    Free full text. Int J Clin Exp Pathol. PMID: Author information Article notes Copyright and License information Disclaimer. Address correspondence to: Dr. E-mail: moc. Received Apr 13; Accepted Jun This article has been cited by other articles in PMC. Go to:. Study subjects Subjects were recruited from Qilu Hospital of Shandong University between and Genotyping DNA samples were obtained from all the participants from peripheral blood with the Chelex method [ 19 ]. Patient characteristics A total of patients diagnosed with IPF and age and sex matched healthy controls were enrolled in this study.

    Table 1 The summary of the basic characteristics of the groups. IPF Control No. Open in a separate window. Group rs TT vs. GG TT vs. Figure 1. Figure 2. Idiopathic pulmonary fibrosis in Taiwan-a population-based study.