Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome
Abstract Mucin 1/Krebs von den Lungen-6 (KL-6) is proposed as a serum biomarker of several interstitial lung diseases (ILDs), including connective tissue disorders associated with ILD. However, it has not been studied in a large cohort of Caucasian antisynthetase syndrome (ASSD) patients. Consequent...
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2021
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oai:doaj.org-article:cd5a8124167049f5973b2650b03b77f62021-11-21T12:20:00ZRole of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome10.1038/s41598-021-01992-y2045-2322https://doaj.org/article/cd5a8124167049f5973b2650b03b77f62021-11-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-01992-yhttps://doaj.org/toc/2045-2322Abstract Mucin 1/Krebs von den Lungen-6 (KL-6) is proposed as a serum biomarker of several interstitial lung diseases (ILDs), including connective tissue disorders associated with ILD. However, it has not been studied in a large cohort of Caucasian antisynthetase syndrome (ASSD) patients. Consequently, we assessed the role of MUC1 rs4072037 and serum KL-6 levels as a potential biomarker of ASSD susceptibility and for the differential diagnosis between patients with ILD associated with ASSD (ASSD-ILD +) and idiopathic pulmonary fibrosis (IPF). 168 ASSD patients (149 ASSD-ILD +), 174 IPF patients and 523 healthy controls were genotyped for MUC1 rs4072037 T > C. Serum KL-6 levels were determined in a subgroup of individuals. A significant increase of MUC1 rs4072037 CC genotype and C allele frequencies was observed in ASSD patients compared to healthy controls. Likewise, MUC1 rs4072037 TC and CC genotypes and C allele frequencies were significantly different between ASSD-ILD+ and IPF patients. Additionally, serum KL-6 levels were significantly higher in ASSD patients compared to healthy controls. Nevertheless, no differences in serum KL-6 levels were found between ASSD-ILD+ and IPF patients. Our results suggest that the presence of MUC1 rs4072037 C allele increases the risk of ASSD and it could be a useful genetic biomarker for the differential diagnosis between ASSD-ILD+ and IPF patients.Sara Remuzgo-MartínezBelén Atienza-MateoJ. Gonzalo Ocejo-VinyalsFernanda GenreVerónica Pulito-CuetoVíctor M. Mora-CuestaDavid Iturbe-FernándezLeticia Lera-GómezRaquel Pérez-FernándezDiana Prieto-PeñaJuan IrureFredeswinda Romero-BuenoOlga Sanchez-PernauteRodrigo Alonso-MoralejoLaura NuñoGema BonillaEsther F. Vicente-RabanedaIgnacio GrafiaSergio Prieto-GonzálezJavier NarvaezErnesto Trallero-AraguasAlbert Selva-O’CallaghanSpanish Biomarkers of Antisynthetase Syndrome ConsortiumSpanish Biomarkers of Interstitial Lung Disease ConsortiumOreste GualilloLorenzo CavagnaJosé M. CifriánElisabetta A. RenzoniSantos CastañedaRaquel López-MejíasMiguel A. González-GayNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-8 (2021) |
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Medicine R Science Q Sara Remuzgo-Martínez Belén Atienza-Mateo J. Gonzalo Ocejo-Vinyals Fernanda Genre Verónica Pulito-Cueto Víctor M. Mora-Cuesta David Iturbe-Fernández Leticia Lera-Gómez Raquel Pérez-Fernández Diana Prieto-Peña Juan Irure Fredeswinda Romero-Bueno Olga Sanchez-Pernaute Rodrigo Alonso-Moralejo Laura Nuño Gema Bonilla Esther F. Vicente-Rabaneda Ignacio Grafia Sergio Prieto-González Javier Narvaez Ernesto Trallero-Araguas Albert Selva-O’Callaghan Spanish Biomarkers of Antisynthetase Syndrome Consortium Spanish Biomarkers of Interstitial Lung Disease Consortium Oreste Gualillo Lorenzo Cavagna José M. Cifrián Elisabetta A. Renzoni Santos Castañeda Raquel López-Mejías Miguel A. González-Gay Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome |
| description |
Abstract Mucin 1/Krebs von den Lungen-6 (KL-6) is proposed as a serum biomarker of several interstitial lung diseases (ILDs), including connective tissue disorders associated with ILD. However, it has not been studied in a large cohort of Caucasian antisynthetase syndrome (ASSD) patients. Consequently, we assessed the role of MUC1 rs4072037 and serum KL-6 levels as a potential biomarker of ASSD susceptibility and for the differential diagnosis between patients with ILD associated with ASSD (ASSD-ILD +) and idiopathic pulmonary fibrosis (IPF). 168 ASSD patients (149 ASSD-ILD +), 174 IPF patients and 523 healthy controls were genotyped for MUC1 rs4072037 T > C. Serum KL-6 levels were determined in a subgroup of individuals. A significant increase of MUC1 rs4072037 CC genotype and C allele frequencies was observed in ASSD patients compared to healthy controls. Likewise, MUC1 rs4072037 TC and CC genotypes and C allele frequencies were significantly different between ASSD-ILD+ and IPF patients. Additionally, serum KL-6 levels were significantly higher in ASSD patients compared to healthy controls. Nevertheless, no differences in serum KL-6 levels were found between ASSD-ILD+ and IPF patients. Our results suggest that the presence of MUC1 rs4072037 C allele increases the risk of ASSD and it could be a useful genetic biomarker for the differential diagnosis between ASSD-ILD+ and IPF patients. |
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article |
| author |
Sara Remuzgo-Martínez Belén Atienza-Mateo J. Gonzalo Ocejo-Vinyals Fernanda Genre Verónica Pulito-Cueto Víctor M. Mora-Cuesta David Iturbe-Fernández Leticia Lera-Gómez Raquel Pérez-Fernández Diana Prieto-Peña Juan Irure Fredeswinda Romero-Bueno Olga Sanchez-Pernaute Rodrigo Alonso-Moralejo Laura Nuño Gema Bonilla Esther F. Vicente-Rabaneda Ignacio Grafia Sergio Prieto-González Javier Narvaez Ernesto Trallero-Araguas Albert Selva-O’Callaghan Spanish Biomarkers of Antisynthetase Syndrome Consortium Spanish Biomarkers of Interstitial Lung Disease Consortium Oreste Gualillo Lorenzo Cavagna José M. Cifrián Elisabetta A. Renzoni Santos Castañeda Raquel López-Mejías Miguel A. González-Gay |
| author_facet |
Sara Remuzgo-Martínez Belén Atienza-Mateo J. Gonzalo Ocejo-Vinyals Fernanda Genre Verónica Pulito-Cueto Víctor M. Mora-Cuesta David Iturbe-Fernández Leticia Lera-Gómez Raquel Pérez-Fernández Diana Prieto-Peña Juan Irure Fredeswinda Romero-Bueno Olga Sanchez-Pernaute Rodrigo Alonso-Moralejo Laura Nuño Gema Bonilla Esther F. Vicente-Rabaneda Ignacio Grafia Sergio Prieto-González Javier Narvaez Ernesto Trallero-Araguas Albert Selva-O’Callaghan Spanish Biomarkers of Antisynthetase Syndrome Consortium Spanish Biomarkers of Interstitial Lung Disease Consortium Oreste Gualillo Lorenzo Cavagna José M. Cifrián Elisabetta A. Renzoni Santos Castañeda Raquel López-Mejías Miguel A. González-Gay |
| author_sort |
Sara Remuzgo-Martínez |
| title |
Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome |
| title_short |
Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome |
| title_full |
Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome |
| title_fullStr |
Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome |
| title_full_unstemmed |
Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome |
| title_sort |
role of muc1 rs4072037 polymorphism and serum kl-6 levels in patients with antisynthetase syndrome |
| publisher |
Nature Portfolio |
| publishDate |
2021 |
| url |
https://doaj.org/article/cd5a8124167049f5973b2650b03b77f6 |
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