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Title: A genome-wide association study identifies SLC8A3 as a susceptibility locus for ACPA-positive rheumatoid arthritis.
Authors: Julià, Antonio
González, Isidoro
Fernández-Nebro, Antonio
Blanco, Francisco
Rodriguez, Luis
González, Antonio
Cañete, Juan D
Maymó, Joan
Alperi-López, Mercedes
Olivé, Alejandro
Corominas, Héctor
Martínez-Taboada, Víctor
Erra, Alba
Sánchez-Fernández, Simón
Alonso, Arnald
Lopez-Lasanta, Maria
Tortosa, Raül
Codó, Laia
Gelpi, Josep Lluis
García-Montero, Andres C
Bertranpetit, Jaume
Absher, Devin
Bridges, S Louis
Myers, Richard M
Tornero, Jesus
Marsal, Sara
Keywords: anti-citrullinated protein antibodies;genetic risk;genome-wide association study;joint erosions;rheumatoid arthritis
metadata.dc.subject.mesh: Adult
Arthritis, Rheumatoid
Case-Control Studies
Genetic Loci
Genetic Predisposition to Disease
Genome-Wide Association Study
Middle Aged
Peptides, Cyclic
Polymorphism, Single Nucleotide
Risk Factors
Sodium-Calcium Exchanger
White People
Issue Date: 15-Mar-2016
Abstract: RA patients with serum ACPA have a strong and specific genetic background. The objective of the study was to identify new susceptibility genes for ACPA-positive RA using a genome-wide association approach. A total of 924 ACPA-positive RA patients with joint damage in hands and/or feet, and 1524 healthy controls were genotyped in 582 591 single-nucleotide polymorphisms (SNPs) in the discovery phase. In the validation phase, the most significant SNPs in the genome-wide association study representing new candidate loci for RA were tested in an independent cohort of 863 ACPA-positive patients with joint damage and 1152 healthy controls. All individuals from the discovery and validation cohorts were Caucasian and of Southern European ancestry. In the discovery phase, 60 loci not previously associated with RA risk showed evidence for association at P SLC8A3 was identified as a new risk locus for ACPA-positive RA. This study demonstrates the advantage of analysing relevant subsets of RA patients to identify new genetic risk variants.
metadata.dc.identifier.doi: 10.1093/rheumatology/kew035
Appears in Collections:Producción 2020

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