Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome.
Adult
Biomarkers
/ blood
Case-Control Studies
Cross-Sectional Studies
Diagnosis, Differential
Female
Gene Frequency
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Idiopathic Pulmonary Fibrosis
/ blood
Lung Diseases, Interstitial
/ blood
Male
Middle Aged
Mucin-1
/ blood
Myositis
/ blood
Phenotype
Polymorphism, Single Nucleotide
Predictive Value of Tests
Spain
Up-Regulation
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
19 11 2021
19 11 2021
Historique:
received:
27
08
2021
accepted:
08
11
2021
entrez:
20
11
2021
pubmed:
21
11
2021
medline:
5
2
2022
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 34799647
doi: 10.1038/s41598-021-01992-y
pii: 10.1038/s41598-021-01992-y
pmc: PMC8604941
doi:
Substances chimiques
Biomarkers
0
MUC1 protein, human
0
Mucin-1
0
Types de publication
Comparative Study
Journal Article
Multicenter Study
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
22574Subventions
Organisme : Instituto de Salud Carlos III
ID : RD16/0012/0009
Organisme : Instituto de Salud Carlos III
ID : CM20/00006
Organisme : Instituto de Salud Carlos III
ID : RD16/0012/0014
Organisme : Instituto de Salud Carlos III
ID : CP16/00033
Organisme : Servicio Cántabro de Salud
ID : López Albo´ Post-Residency Programme
Organisme : Instituto de Investigación Marqués de Valdecilla
ID : PREVAL 18/01
Organisme : Instituto de Investigación Marqués de Valdecilla
ID : INNVAL 20/06
Organisme : Foundation for Research in Rheumatology
ID : FOREUM 18/34
Organisme : Research Executive Agency (REA)
ID : 734899
Investigateurs
Norberto Ortego-Centeno
(N)
Nair Pérez-Gómez
(N)
Antonio Mera
(A)
Julia Martínez-Barrio
(J)
Clara Moriano
(C)
Elvira Díez
(E)
Jaime Calvo-Alén
(J)
Alejandro Balsa
(A)
María Piedad Ussetti
(MP)
Rosalía Laporta
(R)
Cristina Berastegui
(C)
Amparo Solé
(A)
Informations de copyright
© 2021. The Author(s).
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