PT - JOURNAL ARTICLE AU - Nils Milman AU - Thomas Van Overeem Hansen AU - Michael Skov Jensen TI - Does the <em>BTNL2</em> genotype influence the course of disease in Danish sarcoidosis patients? DP - 2014 Sep 01 TA - European Respiratory Journal PG - 3224 VI - 44 IP - Suppl 58 4099 - http://erj.ersjournals.com/content/44/Suppl_58/3224.short 4100 - http://erj.ersjournals.com/content/44/Suppl_58/3224.full SO - Eur Respir J2014 Sep 01; 44 AB - Background: The BTNL2 A allele is associated with increased risk of sarcoidosis. The aim was to evaluate the influence of the BTNL2 genotype profile on the course of disease in sarcoidosis patients.Subjects and methods: BTNL2 genotype was performed in 133 ethnic Danish patients with biopsy-verified sarcoidosis (80 men). Age at diagnosis: median 38±1.8 years. Follow-up period: median 48 months (range 0-373).Results:Distribution of BTNL2 genotypes was in Hardy-Weinberg equilibrium in patients and 113 controls. A allele frequency was increased in sarcoidosis patients (A=73.9%, G=26.1%) vs. controls (A=55.8%, G=44.2%) (p&lt;0.03); 5.7% were GG homozygous and 54.0% were AA homozygous vs. 16% and 27.4% in controls. AA genotype was associated with an increased risk of sarcoidosis in a dominant OR 3.1 (95%CI 1.11–8.74), p&lt;0.03 and a recessive model OR 3.1 (95%CI 1.72–5.61), p&lt;0.001). All patients with end-stage pulmonary sarcoidosis had the AA genotype. In the entire series, we could not demonstrate an association between BTNL2 genotype and an acute or chronic course of disease. There was no association between degree of lung involvement and BTNL2 genotype. Analyses of clinical parameters and lung function at latest follow-up showed no association between BTNL2 genotype and outcome.View this table:Table 1. BTNL2 genotype and course of sarcoid diseaseConclusions: BTNL2 AA genotype is prevalent in patients with sarcoidosis and may be of use to help establish a diagnosis. There appeared to be no association between BTNL2 genotype and outcome of disease.