A genome-wide association study identifies SLC8A3 as a susceptibility locus for ACPA-positive rheumatoid arthritis

Rheumatology (United Kingdom)

Volumn 55, Issue 6, 2016, Pages 1106-1111

  Julià, Antonio ^a   González, Isidoro ^b   Fernández Nebro, Antonio ^c   Blanco, Francisco ^d   Rodriguez, Luis ^e   González, Antonio ^f   Cañete, Juan D ^g   Maymó, Joan ^h   Alperi López, Mercedes ⁱ   Olivé, Alejandro ^j   Corominas, Héctor ^k   Martínez Taboada, Víctor ^l   Erra, Alba ^m   Sánchez Fernández, Simón ⁿ   Alonso, Arnald ^a   Lopez Lasanta, Maria ^a   Tortosa, Raül ^a   Codó, Laia ^o,p   Gelpi, Josep Lluis ^o,p   García Montero, Andres C ^q   Bertranpetit, Jaume ^r   Absher, Devin ^s   Bridges, S Louis ^t   Myers, Richard M ^u   Tornero, Jesus ^v   Marsal, Sara ^a   more..

^a HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^b HOSPITAL UNIVERSITARIO DE LA PRINCESA   (Spain)

^c HOSPITAL REGIONAL UNIVERSITARIO DE MÁLAGA   (Spain)

^d UNIVERSITY OF A CORUÑA   (Spain)

^e HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^f Santiago University Clinical Hospital   (Spain)

^g HOSPITAL CLÍNIC   (Spain)

^h HOSPITAL DEL MAR   (Spain)

ⁱ HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

^j HOSPITAL UNIVERSITARI GERMANS TRIAS I PUJOL   (Spain)

^k Moises Broggi Hospital Sant Joan d'Espì   (Spain)

^l HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^m Hospital Sant Rafael   (Spain)

ⁿ HOSPITAL GENERAL LA MANCHA CENTRO   (Spain)

^o BARCELONA SUPERCOMPUTING CENTER   (Spain)

^p UNIVERSITY OF BARCELONA   (Spain)

^q UNIVERSITY OF SALAMANCA   (Spain)

^r UNIVERSITAT POMPEU FABRA   (Spain)

^s Abshers lab   (Spain)

^t University of Alabama at Birmingham   (United States)

^u HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY   (United States)

^v HOSPITAL UNIVERSITARIO DE GUADALAJARA   (Spain)

more..

Author keywords

Anti citrullinated protein antibodies; Genetic risk; Genome wide association study; Joint erosions; Rheumatoid arthritis

Indexed keywords

CARRIER PROTEINS AND BINDING PROTEINS; CITRULLINATED PROTEIN ANTIBODY; PROTEIN ANTIBODY; SOLUTE CARRIER FAMILY 8 MEMBER 3 PROTEIN; UNCLASSIFIED DRUG; AUTOANTIBODY; CYCLIC CITRULLINATED PEPTIDE; CYCLOPEPTIDE; SLC38A3 PROTEIN, HUMAN; SODIUM CALCIUM EXCHANGE PROTEIN;

ARTICLE; CASE CONTROL STUDY; CAUCASIAN; CHROMOSOME 14Q; COHORT ANALYSIS; CONTROLLED STUDY; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; GENOMICS; GENOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; RHEUMATOID ARTHRITIS; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTHERN EUROPEAN; ADULT; BLOOD; FEMALE; GENETIC PREDISPOSITION; GENETICS; IMMUNOLOGY; MALE; MIDDLE AGED; RISK FACTOR;

ADULT; ARTHRITIS, RHEUMATOID; AUTOANTIBODIES; CASE-CONTROL STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; MALE; MIDDLE AGED; PEPTIDES, CYCLIC; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; SODIUM-CALCIUM EXCHANGER;

EID: 84974817803     PISSN: 14620324     EISSN: 14620332     Source Type: Journal    
DOI: 10.1093/rheumatology/kew035     Document Type: Article

References (18)

1. Okada Y, Wu D, Trynka G et al. Genetics of rheumatoid arthritis contributes to biology and drug discovery. Nature 2014;506:376-81.
2. Kurreeman F, Liao K, Chibnik L et al. Genetic basis of autoantibody positive and negative rheumatoid arthritis risk in a multi-ethnic cohort derived from electronic health records. Am J Hum Genet 2011;88:57-69.
3. Padyukov L, Seielstad M, Ong RT et al. A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. Ann Rheum Dis 2011;70:259-65.
4. Raychaudhuri S, Sandor C, Stahl EA et al. Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis. Nat Genet 2012;44:291-6.
5. Kim K, Bang SY, Lee HS et al. High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci. Ann Rheum Dis 2015;74:e13.
6. van der Heijde DM. Joint erosions and patients with early rheumatoid arthritis. Br J Rheumatol 1995;34 (Suppl 2): 74-8.
7. Julia A, Domenech E, Chaparro M et al. A genome-wide association study identifies a novel locus at 6q22.1associated with ulcerative colitis. Hum Mol Genet 2014;23:6927-34.
8. Rosenbloom KR, Armstrong J, Barber GP et al. The UCSC Genome Browser database: 2015 update. Nucleic Acids Res 2015;43(Database issue):D670-81.
9. Lytton J. Na+/Ca2+ exchangers: three mammalian gene families control Ca2+ transport. Biochem J 2007;406:365-82.
10. Staiano RI, Granata F, Secondo A et al. Expression and function of Na+/Ca2+ exchangers 1 and 3 in human macrophages and monocytes. Eur J Immunol 2009;39:1405-18.
11. Firestein GS. Evolving concepts of rheumatoid arthritis. Nature 2003;423:356-61.
12. Stains JP, Weber JA, Gay CV. Expression of Na+/Ca2+ exchanger isoforms (NCX1 and NCX3) and plasma membrane Ca2+ ATPase during osteoblast differentiation. J Cell Biochem 2002;84:625-35.
13. Sosnoski DM, Gay CV. NCX3 is a major functional isoform of the sodium-calcium exchanger in osteoblasts. J Cell Biochem 2008;103:1101-10.
14. Viatte S, Plant D, Bowes J et al. Genetic markers of rheumatoid arthritis susceptibility in anti-citrullinated peptide antibody negative patients. Ann Rheum Dis 2011;71:1984-90.
15. Bossini-Castillo L, de Kovel C, Kallberg H et al. A genomewide association study of rheumatoid arthritis without antibodies against citrullinated peptides. Ann Rheum Dis 2015;74:e15.
16. Knevel R, Klein K, Somers K et al. Identification of a genetic variant for joint damage progression in autoantibodypositive rheumatoid arthritis. Ann Rheum Dis 2014;73:2038-46.
17. Thal MA, Carvalho TL, He T et al. Ebf1-mediated downregulation of Id2 and Id3 is essential for specification of the B cell lineage. Proc Natl Acad Sci U S A 2009;106:552-7.
18. Nordmark G, Kristjansdottir G, Theander E et al. Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjogren's syndrome. Genes Immun 2011;12:100-9.