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Abstract Number: 104

A Genome-Wide Association Study Identifies SLC8A3 As a Susceptibility Locus for ACPA-Positive Rheumatoid Arthritis

Antonio Julià1, Isidoro González-Alvaro2, Antonio Fernandez-Nebro3, Francisco Blanco4, Benjamin Fernandez Gutierrez5, Antonio Gonzalez6, Juan D. Cañete7, Joan Maymo8, Mercedes Alperi-López9, Alejandro Olivé10, Hector Corominas11, Víctor Martínez Taboada12, Alba Erra13, Simon Sanchez Fernandez14, Arnald Alonso1, María López-Lasanta1, Raül Tortosa1, S. Louis Bridges Jr.15, Jesús Tornero16 and Sara Marsal17, 1Rheumatology Research Group, Vall d'Hebron Hospital Research Institute, Barcelona, Spain, 2Rheumatology Department, Hospital Universitario la Princesa, IIS-Princesa, Madrid, Spain, 3Rheumatology, Hospital Universitario Carlos Haya, Malaga, Spain, 4Rheumatology Division, Fundación Profesor Novoa Santos, A Coruna, Spain, 5Department of Rheumatology, Hospital Clínico San Carlos, Madrid, Spain, 6H. Clinico Universtiario de Santiago, Santiago de Compostela, Spain, 7Unitat d’Artritis, Servei de Reumatologia, Hospital Clínic de Barcelona and Institut d’Investigacions Biomèdiques August Pí i Sunyer, Barcelona, Spain, 8H del Mar, Barcelona, Spain, 9Department of Rheumatology, Hospital Universitario Central de Asturias, Asturias, Spain, 10Hospital Germans Trias i Pujol, Badalona, Spain, 11Servei de Reumatologia, Hospital Moises Broggi, Barcelona, Spain, 12Rheumatology, Hospital Marqués de Valdecilla, Santander, Spain, 13CapiCAT group (Nailfold Capillaroscopy group from the Catalan Society for Rheumatology)., Catalonia, Spain, 14Rheumatology Department, Hospital General La Mancha Centro, Ciudad Real, Spain, 15Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL, 16Rheumatology Department, Hospital Universitario Guadalajara, Guadalajara, Spain, 17Rheumatology Research Unit, Vall d'Hebron Hospital, Barcelona, Spain

Meeting: 2015 ACR/ARHP Annual Meeting

Date of first publication: September 29, 2015

Keywords: anti-CCP antibodies, Genetic architecture, GWAS, joint damage and rheumatoid arthritis (RA)

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Session Information

Date: Sunday, November 8, 2015

Session Title: Genetics, Genomics and Proteomics Poster I

Session Type: ACR Poster Session A

Session Time: 9:00AM-11:00AM

Background/Purpose:  Rheumatoid Arthritis (RA) patients with serum anti-citrullinated
peptide antibodies (ACPA) have a strong and specific genetic background. We
performed a genome-wide association study (GWAS) of ACPA-positive RA with
erosive disease to identify additional disease susceptibility genes.

Methods:  A total of 924 ACPA-positive RA patients with joint damage in
hands and/or feet, and 1,524 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 GWAS representing new candidate
loci for RA were tested in an independent cohort of 863 ACPA-positive patients
with joint damage and 1,152 healthy controls. All individuals from the
discovery and validation cohorts were Caucasian and from Southern European
ancestry.

Results:  In the discovery phase, 60 loci not previously associated with
RA risk showed evidence for association at P <
5e-4 and were tested for replication in the validation cohort. A total of 12
loci were replicated at the nominal level (P < 0.05, same direction of effect as in the discovery phase).
When combining the discovery and validation cohorts, an intronic SNP in Solute
Carrier family 8 gene (SLC8A3) was found to be associated with
ACPA-positive RA at a genome-wide level of significance RA (OR(95%CI):
1.42(1.25-1.6),  Pcombined = 3.19e-8, Figure 1).

Figure 1_ gwas_acpa.tif

Figure 1. Association results for SLC8A3 locus with
ACPA-positive RA.
Significance
-log10(P-value) of association of SNPs at SLC8A3 locus with ACPA-positive RA.
The genome-wide significant marker is plotted as a purple diamond, and all the
remaining markers as color-coded according to their LD with this SNP.

Conclusion:  SLC8A3 was identified as new risk locus for ACPA-positive RA. This
study demonstrates the advantage of analyzing relevant subsets of RA patients
to identify new genetic risk variants.


Disclosure: A. Julià, None; I. González-Alvaro, None; A. Fernandez-Nebro, None; F. Blanco, None; B. Fernandez Gutierrez, None; A. Gonzalez, None; J. D. Cañete, None; J. Maymo, None; M. Alperi-López, None; A. Olivé, None; H. Corominas, None; V. Martínez Taboada, None; A. Erra, None; S. Sanchez Fernandez, None; A. Alonso, None; M. López-Lasanta, None; R. Tortosa, None; S. L. Bridges Jr., None; J. Tornero, None; S. Marsal, None.

To cite this abstract in AMA style:

Julià A, González-Alvaro I, Fernandez-Nebro A, Blanco F, Fernandez Gutierrez B, Gonzalez A, Cañete JD, Maymo J, Alperi-López M, Olivé A, Corominas H, Martínez Taboada V, Erra A, Sanchez Fernandez S, Alonso A, López-Lasanta M, Tortosa R, Bridges SL Jr., Tornero J, Marsal S. A Genome-Wide Association Study Identifies SLC8A3 As a Susceptibility Locus for ACPA-Positive Rheumatoid Arthritis [abstract]. Arthritis Rheumatol. 2015; 67 (suppl 10). https://acrabstracts.org/abstract/a-genome-wide-association-study-identifies-slc8a3-as-a-susceptibility-locus-for-acpa-positive-rheumatoid-arthritis/. Accessed March 7, 2021.
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