Diffuse Lung Disease |

The Association of HLA-DRB1* and HLA-DQB1* Alleles With the Extent and Course of Disease in Patients With Sarcoidosis FREE TO VIEW

Dorina Esendagli, MD; Fusun Ozmen, MD; Sevgen Onder, MD; Elif Korkmaz, MD; Deniz Koksal, MD; Salih Emri, MD
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Hacettepe University Medical School, Department of Chest Diseases, Ankara, Turkey

Chest. 2015;148(4_MeetingAbstracts):416A. doi:10.1378/chest.2268051
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SESSION TITLE: Non-IPF Diffuse Lung Disease

SESSION TYPE: Original Investigation Slide

PRESENTED ON: Wednesday, October 28, 2015 at 08:45 AM - 10:00 AM

PURPOSE: Sarcoidosis is a systemic inflammatory disease of unknown etiology that involves any part of the body, mainly the lungs and thoracic lymph nodes. The clinical presentation is heterogeneous based on the degree and extent of organ involvement. While some patients recover spontaneously or with medical therapy, some progress insidiously and present with chronic fibrotic disease. The existence of variable clinical presentations and treatment responses suggest the important role of genetic predisposition in patients with sarcoidosis. In genetic studies, sarcoidosis was found to be associated with several genes, but the strongest link was with HLA region. The aim of this study was to investigate the association of HLA class II alleles with the extent and course of disease in patients with sarcoidosis.

METHODS: The study included 50 patients with sarcoidosis admitted to our clinic between October 2013 and March 2015. The control group included 100 unrelated healthy donors who were registered to tissue typing laboratory. HLA-DRB1 and HLA-DQB1 typing was performed by using PCR-SSP method at low resolution level. Chi-square and Fisher's exact tests were used for statistical analysis.

RESULTS: The mean age of sarcoidosis patients was 46.9 years and 74% were females. While 66% had single organ involvement (97% lung), 34% had multiple system involvement. Based on CXR staging, 69% were stage 2. Fifteen patients were followed without any therapy, 17 received inhaler steroids, 27 systemic steroids, and 10 second-line agents. The follow up showed regression in 19, progression in 14, and stable disease in 17 patients. In HLA-DRB1* and -DQB1* analysis, 27 alleles were identified in both patient and control groups. The frequency of DRB1*02 (%5, p=0.004), DRB1*06 (%3, p=0.036), DRB1*13 (%22, p= 0.016) and DQB1*13 (%5, p=0.04) alleles were higher in the patient group. Of these alleles the frequency of DRB1*02 (p=0.003) and DRB1*13 (p=0.007) were higher in single organ involvement, whereas the frequency of HLA-DRB1*06 allele was higher in patients with progressive disease (p<0.05).

CONCLUSIONS: These results support the association of HLA-DRB1*02, -DRB1*06, -DRB1*13 and HLA-DQB1*13 alleles with sarcoidosis in Turkish patients.

CLINICAL IMPLICATIONS: Our study supports the presence of an association of HLA-DRB1 and HLA-DQB1 alleles with sarcoidosis. We think that they can be used for choosing appropriate therapies and predicting prognosis in Turkish patients.This study is ongoing in order to extend the patient number.

DISCLOSURE: The following authors have nothing to disclose: Dorina Esendagli, Fusun Ozmen, Sevgen Onder, Elif Korkmaz, Deniz Koksal, Salih Emri

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