Association of TGF-β3 and ANXA11 with pulmonary sarcoidosis in Greek population
Language English Country Great Britain, England Media print-electronic
Document type Journal Article, Research Support, Non-U.S. Gov't
- Keywords
- ANXA11, TGF-β3, Greek, genetic factors, polymorphisms, sarcoidosis,
- MeSH
- Alleles MeSH
- Annexins genetics MeSH
- White People genetics MeSH
- Adult MeSH
- Genetic Predisposition to Disease * MeSH
- Genotyping Techniques MeSH
- Polymorphism, Single Nucleotide * MeSH
- Middle Aged MeSH
- Humans MeSH
- Sarcoidosis, Pulmonary genetics metabolism MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Transforming Growth Factor beta3 genetics MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Geographicals
- Greece MeSH
- Names of Substances
- Annexins MeSH
- Transforming Growth Factor beta3 MeSH
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. RESULTS: 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.
Department of Immunology and Histocompatibility Laiko General Hospital Athens Greece
Laboratory of Cardiogenomics University Hospital Olomouc Olomouc Czech Republic
Sarcoidosis Center General Hospital of Chest Diseases of Athens Sotiria Athens Greece
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