Article
A Single Nucleotide Polymorphism in the Il17ra Promoter Is Associated with Functional Severity of Ankylosing Spondylitis.
PloS one - 1 Jan 2016
Vidal-Castiñeira Jose Ramón, López-Vázquez Antonio, Diaz-Peña Roberto, Diaz-Bulnes Paula, Martinez-Camblor Pablo, Coto Eliecer, Coto-Segura Pablo, Bruges-Armas Jacome, Pinto Jose Antonio, Blanco Francisco Jose, Sánchez Alejandra, Mulero Juan, Queiro Ruben, Lopez-Larrea Carlos
Abstract excerpt
The aim of this study was to identify new genetic variants associated with the severity of ankylosing spondylitis (AS). We sequenced the exome of eight patients diagnosed with AS, selected on the basis of the severity of their clinical parameters. We identified 27 variants in exons and regulatory regions. The contribution of candidate variants found to AS severity was validated by genotyping two Spanish cohorts...
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