Background and aims: CXC chemokine ligand 10 (CXCL10) also known as chemokine interferon γ inducible protein (IP-10) is a CXCR3 chemokine belongs to a group of structurally related molecules, that induce the chemotaxis of diverse leukocyte subtypes including activated T-helper 1 lymphocytes, natural killer cells and monocytes. In patients with Hashimotos thyroiditis, type 1 diabetes mellitus and Graves disease high levels of CXCL10 ligand in serum have been found. Therefore, we investigated the role of CXCL10 gene polymorphisms in patients with Addisons disease (AD) and in patients with Graves disease (GD).
Materials and methods: Patients from Germany with Addisons disease (n=174), Graves disease (n=171) and healthy controls (HC: n=285) were genotyped for the CXCL10_89 and for the CXCL10_90 (AD: n=183; GD: n=82) polymorphism within the CXCL10 gene. Additionally patients with Graves disease and healthy controls from Poland (GD: n=181; HC: n=147) and Serbia (GD: n=177; HC: n=151) were genotyped for the CXCL10_89 polymorphism using real time PCR.
Results: In patient with Addisons disease, the CXCL10_89 (G/A) heterozygosity was more frequent (58.6 vs 46.7%) while the (G/G) homozygosity rate (25.9 vs 36.5%) was found less than in healthy controls (P=0.031). No differences were observed in the genotype-frequencies for CXCL10_90 and CXCL10_89 polymorphisms in Graves disease.
Conclusion: CXCL10_89 gene polymorphism was significantly associated with Addisons disease in the German population but not with Graves disease. Our results point out that CXCL10 could be a candidate gene in the pathogenesis of Addisons disease. Nevertheless, functional studies are underway to put these findings into physiological contexts.
03 - 07 May 2008
European Society of Endocrinology