Effect of variation in ITGAE on risk of sarcoidosis, CD103 expression, and chest radiography

Abstract The integrin αE β7 is believed to play a key role in retention of lymphocytes in mucosal tissues of gut, urogenital tract and lung. Five common single nucleotide polymorphisms spanning ITGAE , the gene encoding the αE (CD103) unit, were genotyped in 556 sarcoidosis patients and 465 controls. The − 1088 A/G polymorphism was associated with sarcoidosis ( P = 0.004). An increased risk of disease was found for homozygous carriers of the A allele vs. carriers of the G allele ( P = 0.001, odds ratio = 1.63 [1.22–2.17]). Analysis of lymphocytes from bronchoalveolar lavage and in vitro functional tests showed higher percentages of CD103+CD4+ T cells for the sarcoidosis risk genotype. Radiographic staging at disease outcome revealed prevalence of − 1088 AA genotype in patients with fibrosis ( P = 0.01). A higher proportion of CD103+CD4+ T cells and ITGAE − 1088 AA genotype might be associated with fibrosis formation in pulmonary sarcoidosis.