A Single Nucleotide Polymorphism in the Il17ra Promoter Is Associated with Functional Severity of Ankylosing Spondylitis.

Bibliographic Details
Title:	A Single Nucleotide Polymorphism in the Il17ra Promoter Is Associated with Functional Severity of Ankylosing Spondylitis.
Authors:	Jose Ramón Vidal-Castiñeira, Antonio López-Vázquez, Roberto Diaz-Peña, Paula Diaz-Bulnes, Pablo Martinez-Camblor, Eliecer Coto, Pablo Coto-Segura, Jacome Bruges-Armas, Jose Antonio Pinto, Francisco Jose Blanco, Alejandra Sánchez, Juan Mulero, Ruben Queiro, Carlos Lopez-Larrea
Source:	PLoS ONE, Vol 11, Iss 7, p e0158905 (2016)
Publisher Information:	Public Library of Science (PLoS), 2016.
Publication Year:	2016
Collection:	LCC:Medicine LCC:Science
Subject Terms:	Medicine, Science
More Details:	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 consisting of 180 cases/300 controls and 419 cases/656 controls. Relationships of SNPs and clinical variables with the Bath Ankylosing Spondylitis Disease Activity and Functional Indices BASDAI and BASFI were analyzed. BASFI was standardized by adjusting for the duration of the disease since the appearance of the first symptoms. Refining the analysis of SNPs in the two cohorts, we found that the rs4819554 minor allele G in the promoter of the IL17RA gene was associated with AS (p
Document Type:	article
File Description:	electronic resource
Language:	English
ISSN:	1932-6203 91100534
Relation:	http://europepmc.org/articles/PMC4945092?pdf=render; https://doaj.org/toc/1932-6203
DOI:	10.1371/journal.pone.0158905
Access URL:	https://doaj.org/article/cef5c91100534771af7cfa1dcda0a4d3
Accession Number:	edsdoj.f5c91100534771af7cfa1dcda0a4d3
Database:	Directory of Open Access Journals

More Details
ISSN:	19326203 91100534
DOI:	10.1371/journal.pone.0158905
Published in:	PLoS ONE
Language:	English