A candidate gene study identifies a haplotype of CD2 as novel susceptibility factor for systemic sclerosis

Clinical and Experimental Rheumatology

Volumn 34, Issue , 2016, Pages 43-48

  Koumakis, Eugénie ^a,b   Bouaziz, Matthieu ^c   Dieudé, Philippe ^b   Cauvet, Anne ^a   Ruiz, Barbara ^a   Airò, Paolo ^d   Cusi, Daniele ^e   Matucci Cerinic, Marco ^f   Salvi, Erika ^g   Cuomo, Giovanna ^h   Hachulla, Eric ⁱ   Diot, Elisabeth ^j   Caramaschi, Paola ^k   Riccieri, Valeria ^l   Avouac, Jérôme ^a,b   Allanore, Yannick ^a,b  

^a INSTITUT COCHIN   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c UNIVERSITÉ D EVRY VAL D ESSONNE   (France)

^d SPEDALI CIVILI   (Italy)

^e INSTITUTE OF BIOMEDICAL TECHNOLOGIES   (Italy)

^f UNIVERSITY OF FLORENCE   (Italy)

^g UNIVERSITY OF MILAN   (Italy)

^h SECOND UNIVERSITY OF NAPLES   (Italy)

ⁱ UNIV LILLE   (France)

^j CHU BRETONNEAU   (France)

^k UNIVERSITY HOSPITAL OF VERONA   (Italy)

^l SAPIENZA UNIVERSITY OF ROME   (Italy)

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Author keywords

Autoimmunity; CD2; Genetics; Polymorphism; Systemic sclerosis

Indexed keywords

CENTROMERE ANTIBODY; MESSENGER RNA; CD2 ANTIGEN; GENETIC MARKER;

ADULT; ARTICLE; CAUCASIAN; CD2 GENE; CONTROLLED STUDY; FEMALE; GENE EXPRESSION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MARKER GENE; PRIORITY JOURNAL; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC SCLEROSIS; AGED; AUTOIMMUNITY; CASE CONTROL STUDY; CLINICAL TRIAL; EPIDEMIOLOGY; ETHNOLOGY; FRANCE; GENE FREQUENCY; GENETIC ASSOCIATION STUDY; GENETIC MARKER; GENETIC PREDISPOSITION; GENETICS; IMMUNOLOGY; ITALY; META ANALYSIS; MIDDLE AGED; MULTICENTER STUDY; ODDS RATIO; PHENOTYPE; RISK FACTOR; SCLERODERMA, SYSTEMIC;

ADULT; AGED; ANTIGENS, CD2; AUTOIMMUNITY; CASE-CONTROL STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FRANCE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; ITALY; MALE; MIDDLE AGED; ODDS RATIO; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; SCLERODERMA, SYSTEMIC;

EID: 84994435918     PISSN: 0392856X     EISSN: 1593098X     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

1. DENTON CP: Systemic sclerosis: from pathogenesis to targeted therapy. Clin Exp Rheumatol 2015; 33 (Suppl. 92): S3-7.
2. MAYES MD: The genetics of scleroderma: looking into the postgenomic era. Curr Opin Rheumatol 2012; 24: 677-84.
3. ALLANORE Y, SAAD M, DIEUDE P et al.: Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for. Plos Genet 2011; 7: e1002091.
4. ZHERNAKOVA A, DIEMEN CC VAN, WIJMENGA C: Detecting shared pathogenesis from the shared genetics of immune-related. Nat Rev Genet 2009; 10: 43-55.
5. DIOGO D, KURREEMAN F, STAHL EA et al.: Rare, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis. Am J Hum Genet 2013; 92: 15-27.
6. RAYCHAUDHURI S, THOMSON BP, REMMERS EF et al.: Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. Nat Genet 2009; 41: 1313-8.
7. KOUMAKIS E, GIRAUD M, DIEUDE P et al.: Brief report: candidate gene study in systemic sclerosis identifies a rare and. Arthritis Rheum 2012; 64: 2746-52.
8. DIEUDé P, GUEDJ M, WIPFF J et al.: The PTPN22 620W allele confers susceptibility to systemic sclerosis: findings of a large casecontrol study of European Caucasians and a meta-analysis. Arthritis Rheum 2008; 58: 2183-8.
9. PLENGE RM, BRIDGES SL, HUIZINGA TWJ, CRISWELL LA, GREGERSEN PK: Recommendations for publication of genetic association studies in Arthritis & Rheumatism. Arthritis Rheum 2011; 63: 2839-47.
10. KOUMAKIS E, BOUAZIZ M, DIEUDé P et al.: A regulatory variant in CCR6 is associated with anti-topoisomerase positive systemic sclerosis susceptibility. Arthritis Rheum 2013; 65: 3202-8.
11. DUSTIN ML, OLSZOWY MW, HOLDORF AD et al.: A novel adaptor protein orchestrates receptor patterning and cytoskeletal polarity in T-cell contacts. Cell 1998; 94: 667-77.
12. MERWE PA VAN DER, DAVIS SJ: Molecular interactions mediating T cell antigen recognition. Annu Rev Immunol 2003; 21: 659-684.
13. DAVIS SJ, IKEMIZU S, EVANS EJ, FUGGER L, BAKKER TR, van der MERWE PA: The nature of molecular recognition by T cells. Nat Immunol 2003; 4: 217-224.
14. HALE LP, MARTIN ME, McCOLLUM DE et al.: Immunohistologic analysis of the distribution of cell adhesion molecules within the inflammatory synovial microenvironment. Arthritis Rheum 1989; 32: 22-30.
15. KRAAN MC, van KUIJK AWR, DINANT HJ et al.: Alefacept treatment in psoriatic arthritis: reduction of the effector T cell population in peripheral blood and synovial tissue is associated with improvement of clinical signs of arthritis. Arthritis Rheum 2002; 46: 2776-84.
16. HOFFMANN JC, BAYER B, ZEIDLER H: Characterization of a soluble form of CD58 in synovial fluid of patients with rheumatoid arthritis (RA). Clin Exp Immunol 1996; 104: 460-6.
17. GOKHALE A, KANTHALA S, LATENDRESSE J, TANEJA V, SATYANARAYANAJOIS S: Immunosuppression by co-stimulatory molecules: inhibition of CD2-CD48/CD58 interaction by peptides from CD2 to suppress progression of collagen-induced arthritis in mice. Chem Biol Drug Des 2013; 82: 106-18.
18. HORWITZ DA, TANG FL, STIMMLER MM, OKI A, GRAY JD: Decreased T cell response to anti-CD2 in systemic lupus erythematosus and reversal by anti-CD28: evidence for impaired T cell-accessory cell interaction. Arthritis Rheum 1997; 40: 822-33.
19. BAECHER-ALLAN CM, COSTANTINO CM, CVETANOVICH GL et al.: CD2 costimulation reveals defective activity by human CD4+CD25(hi) regulatory cells in patients with multiple sclerosis. J Immunol Baltim Md 1950 2011; 186: 3317-26.
20. JAGER PL DE, BAECHER-ALLAN C, MAIER LM et al.: The role of the CD58 locus in multiple sclerosis. Proc Natl Acad Sci USA 2009; 106: 5264-9.