Sarcoidosis (SA) is a systemic granulomatous disorder of unknown etiology characterized by T helper 1-type inflammatory responses at sites of disease with signs of B cell hyperactivity. Like rheumatoid arthritis and diabetes, an infectious etiology has frequently been postulated but no single infectious trigger definitively identified. Polymorphic alleles at SLC11A1 have previously been associated with susceptibility to both the putative infectious agents and to these autoimmune disorders. We therefore investigated its candidacy as a genetic determinant of SA in Poland in an association-based study comparing 86 SA patients with 85 tuberculosis (TB) patients and 93 control subjects. The functional promoter (GT)(n) polymorphism and four of 10 other single nucleotide or insertion/deletion polymorphisms genotyped across SLC11A1 were informative in our sample. Consistent with previous autoimmune disease studies, allele 3 at the functional (GT) n promoter region repeat polymorphism was significantly associated with SA when compared with healthy controls (odds ratio 1.68; 95% CI: 1.01-2.81; P = 0.04) or with TB patients (odds ratio 1.69; 95% CI: 1.042-0.78; P = 0.03).
Dubaniewicz, A., Jamieson, S. E., Dubaniewicz-Wybieralska, M., Fakiola, M., Nancy Miller, E., & Blackwell, J. (2005). Association between SLC11A1 (formerly NRAMP1) and the risk of sarcoidosis in Poland. European Journal of Human Genetics, 13(7), 829-834. https://doi.org/10.1038/sj.ejhg.5201370