Sarcoidosis Vasc Dif
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Sarcoidosis Vasc Dif · Oct 2001
Evidence for disease phenotype associated haplotypes (DR.TNF) in sarcoidosis.
In a previous study, gene polymorphisms of the MHC locus (-308 TNFalpha promotor, HLA-DR) in patients with pulmonary sarcoidosis had been investigated and significant correlations with the presentation of the disease as defined by the presence of Löfgren syndrome had been found. Since genotyping of both loci was necessary to reveal a significant difference on the genetic level between the two patient groups Löfgren and non-Löfgren, a working hypothesis was derived in which a disease course associated haplotype, rather than single specific genes, was considered to play a role in the pathogenesis of sarcoidosis. ⋯ Using theoretical calculations based on actual data, haplotypes, rather than single genes interacting with each other, were found to be a highly likely explanation for the previously published observations. In addition, the results allow the conclusion to be drawn that disease course associated haplotypes in sarcoidosis are highly probable and that further investigation of polymorphisms in the MHC gene region holds the potential of defining prognostic markers.