Polymorphisms in the selenoprotein S gene: lack of association with autoimmune inflammatory diseases.
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)-1beta, tumor necrosis factor (TNF)-alpha 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.


CONCLUSIONS
Lack of association of SEPS1 polymorphisms or haplotypes precludes a major role of this gene increasing predisposition to these inflammatory diseases.
Martínez
Alfonso
A
Immunology Department, Hospital Universitario San Carlos, Madrid, Spain. alfmdoncel@terra.es
Santiago
Jose Luis
JL
Varadé
Jezabel
J
Márquez
Ana
A
Lamas
José Ramón
JR
Mendoza
Juan Luis
JL
de la Calle
Hermenegildo
H
Díaz-Rubio
Manuel
M
de la Concha
Emilio G
EG
Fernández-Gutiérrez
Benjamín
B
Urcelay
Elena
E
D000293:Adolescent; D000328:Adult; D001172:Arthritis, Rheumatoid / Q000235:genetics*; D016022:Case-Control Studies; D003093:Colitis, Ulcerative / Q000235:genetics*; D003424:Crohn Disease / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D051140:Selenoproteins / Q000235:genetics*; D013030:Spain
D008565:Membrane Proteins; C487710:SELENOS protein, human; D051140:Selenoproteins