Open Access Research article

Polymorphisms in the selenoprotein S gene: lack of association with autoimmune inflammatory diseases

Alfonso Martínez1, Jose Luis Santiago1, Jezabel Varadé1, Ana Márquez1, José Ramón Lamas2, Juan Luis Mendoza3, Hermenegildo de la Calle4, Manuel Díaz-Rubio3, Emilio G de la Concha1*, Benjamín Fernández-Gutiérrez2 and Elena Urcelay1

Author Affiliations

1 Immunology Department, Hospital Universitario San Carlos, Madrid, Spain

2 Rheumatology Department, Hospital Universitario San Carlos, Madrid, Spain

3 Gastroenterology Department, Hospital Universitario San Carlos, Madrid, Spain

4 Endocrinology Department, Hospital Ramón y Cajal, Madrid, Spain

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BMC Genomics 2008, 9:329  doi:10.1186/1471-2164-9-329

Published: 14 July 2008

Abstract

Background

Selenoprotein S (SelS) protects the functional integrity of the endoplasmic reticulum against the deleterious effects of metabolic stress. SEPS1/SelS polymorphisms have been involved in the increased release of pro-inflammatory cytokines interleukin (IL)-1β, tumor necrosis factor (TNF)-α and IL-6 in macrophages. We aimed at investigating the role of the SEPS1 variants previously associated with higher plasma levels of these cytokines and of the SEPS1 haplotypes in the susceptibility to develop immune-mediated diseases characterized by an inflammatory component.

Results

Six polymorphisms distributed through the SEPS1 gene (rs11327127, rs28665122, rs4965814, rs12917258, rs4965373 and rs2101171) were genotyped in more than two thousand patients suffering from type 1 diabetes, rheumatoid arthritis or inflammatory bowel diseases and 550 healthy controls included in the case-control study.

Conclusion

Lack of association of SEPS1 polymorphisms or haplotypes precludes a major role of this gene increasing predisposition to these inflammatory diseases.