Association of TGF-ß3 and ANXA11 with pulmonary sarcoidosis in Greek population.

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-ß3 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-ß3 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.

Subjective and Objective Outcomes in Patients With COPD After Pulmonary Rehabilitation - The Impact of Comorbidities.

Background: Chronic obstructive pulmonary disease (COPD) is a heterogeneous disease with multiple systemic manifestations and comorbidities, which contribute independently to its total morbidity and mortality. Pulmonary rehabilitation is an evidence-based intervention that is indicated for COPD patients who remain symptomatic, despite optimal pharmacological therapy. Although it is well documented in pure COPD, the role of pulmonary rehabilitation is uncertain in coexisting comorbidities. The aim of the present study was to clarify the effect of a pulmonary rehabilitation program in COPD patients with concomitant comorbidities. Methods: Thirty two patients with COPD were evaluated before and after a comprehensive pulmonary rehabilitation program, in terms of dyspnea, quality of life (QOL), pulmonary function tests and exercise capacity. The patients were also divided into two groups, according to the presence or the absence of comorbidities. Patients with none or only one comorbidity (Group 1, n = 11) were compared to those who had two or more comorbidities (Group 2, n = 21). Results: All patients significantly improved in dyspnea, as expressed by modified Medical Research Council scale and the COPD assessment Test (p < 0.001), QOL as assessed by the St. George respiratory questionnaire (p < 0.001) and exercise tolerance in six minute walking test (p < 0.001). Peak oxygen uptake relatively increased and body mass decreased in Group 1 compared to Group 2 (p < 0.05). Conclusion: Pulmonary rehabilitation in COPD seems to be beneficial for all patients, independently of the presence, the number or the nature of their comorbidities. Thus, the presence of comorbidities must not represent an exclusion criterion for patients that are referred to pulmonary rehabilitation programs. Trial Registration: Current controlled trials ISRCTN14648515 Retrospectively registered 15 February 2018.