Τίτλος:
Association of TGF-β3 and ANXA11 with pulmonary sarcoidosis in Greek population
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Background: In sarcoidosis, the direction and intensity of immunological reactions involved in disease pathophysiology is affected by variation in the genes coding for effector and regulatory molecules with immune functions. This study, therefore, investigates polymorphic variants in genes involved in inflammation, immune reactions, and granuloma formation in context of their plausible association with sarcoidosis, with specific focus on Greek population. Methods: A total of 18 single-nucleotide polymorphisms (SNPs) were genotyped in Greek patients with pulmonary sarcoidosis (n = 103) and in healthy Greek control subjects (n = 100) using multiplexed MassARRAY (MassARRAY ®) iPLEX assay based on MALDI-TOF mass spectrometry. TGF-β3: rs3917200*G variant was associated with sarcoidosis (OR: 3.04 [95% CI: 1.98–4.69], p = 2.76*10−7). Further, ANXA11 rs1049550*A variant was associated with sarcoidosis (OR: 0.59 [0.39–0.89], p = 0.01). Conclusions: This first study of genetic variation of immune-related genes in Greek patients with sarcoidosis brings to attention a novel disease ‘susceptibility’ factor: TGF-β3 rs3917200*G allele. It also confirms previously reported ‘protective’ association between sarcoidosis and functional variant ANXA11 rs1049550*A. Further work is required to validate these findings and to expand investigation of their plausible relationship with clinical course of the disease. © 2020, © 2020 Informa UK Limited, trading as Taylor & Francis Group.
Συγγραφείς:
Sikorova, K.
Kishore, A.
Rapti, A.
Adam, K.
Kocourkova, L.
Zizkova, V.
Charikiopoulou, M.
Kalianos, A.
Bouros, E.
Bouros, D.
Petrek, M.
Περιοδικό:
Expert Review of Respiratory Medicine
Εκδότης:
Taylor and Francis Ltd.
Λέξεις-κλειδιά:
annexin; annexin A11; transforming growth factor beta3; unclassified drug; annexin; transforming growth factor beta3, adult; aged; Article; case control study; controlled study; female; genetic association; genetic variation; genotype; human; lung sarcoidosis; major clinical study; male; matrix assisted laser desorption ionization time of flight mass spectrometry; pathogenesis; phenotype; single nucleotide polymorphism; allele; Caucasian; genetic predisposition; genetics; genotyping technique; Greece; lung sarcoidosis; metabolism; middle aged; very elderly, Adult; Aged; Aged, 80 and over; Alleles; Annexins; European Continental Ancestry Group; Female; Genetic Predisposition to Disease; Genotyping Techniques; Greece; Humans; Male; Middle Aged; Polymorphism, Single Nucleotide; Sarcoidosis, Pulmonary; Transforming Growth Factor beta3
DOI:
10.1080/17476348.2020.1784729
