The influence of T cell receptor and cytokine genes on sarcoidosis susceptibility in African Americans

Cytokines and Chemokines in Uveitis - Is there a Correlation with Clinical Phenotype?

“…129 Although a polymorphism has been found in the TNFA2 allele to be significantly associated with Lofgren's syndrome, the acute pulmonary form of the disease with frequent spontaneous remission, the suggestion that the gene for TNF-α was etiologically associated with sarcoidosis has been largely discounted and explained by linkage disequilibrium. 130 Polymorphisms have also been identified for the cytokines IL-1 131 and the CC chemokine receptors, CCR2 132 and CCR3. 133 HSP70 has been detected in the eyes of Lewis rats in experimental autoimmune uveitis, 134 and circulating antibodies to inducible HSP70 have also been found in patients with uveitis associated with sarcoidosis as well as BD.…”

Association Between IL-1A Single Nucleotide Polymorphisms and Chronic Beryllium Disease and Beryllium Sensitization

“…30 However, to our knowledge, the IL-1A SNPs have not been studied in individuals with CBD or BeS. 31 Our results show that IL-1A gene polymorphisms may increase susceptibility to CBD and influence the development of disease after sensitization has occurred. Our data are consistent with these alleles playing a more important role in CBD, which is characterized by the presence of granulomas, than in BeS, which is not characterized by the presence of granulomas.…”

“…Of the IL variants analyzed, the IL-1A-137 SNP was most strongly associated with sarcoidosis. 31 In Whites, the IL-1A-899 1.1 genotype was found to occur significantly more often in patients with sarcoidosis compared with healthy controls. 30 However, to our knowledge, the IL-1A SNPs have not been studied in individuals with CBD or BeS.…”

“…29 The release of IL-1A from macrophages in humans with lung diseases such as sarcoidosis and CBD, as well as differences in the development and severity of the former in different racial and ethnic groups, also suggests that variation in IL-1 gene expression may be important in the etiology of these diseases. 27,30,31 Rybicki et al 31 evaluated a number of gene variants associated with the T cell receptor, ILs, and interferon regulatory factor in blacks with sarcoidosis and an unrelated healthy control group. Of the IL variants analyzed, the IL-1A-137 SNP was most strongly associated with sarcoidosis.…”

Human leukocyte antigen genes may outweigh racial background when generating a specific immune response in sarcoidosis

“…The function of such disease associated HLA alleles could be to present specific antigenic peptides in a particular way, so that the recognizing T-lymphocytes subsequently will initiate an inflammation with pathological consequences. However, many genes have also been suggested to contribute to a genetic susceptibility, including those involved in antigen presentation and recognition such as transporter associated with antigen processing (TAP) [9], low-molecular-weight polypeptides (LMP) [10,11] and T-cell receptor (TCR) genes [12]. In addition, in sarcoidosis especially, polymorphic genes encoding angiotensin converting enzyme (ACE) [13 -16], vitamin D receptor (VDR) [17] and cytokines such as interleukin (IL)-1a and tumor necrosis factor-a (TNF-a) [12,18,19] have been implicated to be disease associated.…”