A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci

Human Molecular Genetics

Volumn 22, Issue 19, 2013, Pages 4021-4029

  Martin, Jose Ezequiel ^a   Assassi, Shervin ^b   Diaz Gallo, Lina Marcela ^a   Broen, Jasper C ^c,d   Simeon, Carmen P ^e   Castellvi, Ivan ^f   Vicente Rabaneda, Esther ^g   Fonollosa, Vicente ^e   Ortego Centeno, Norberto ^h   González Gay, Miguel A ⁱ   Espinosa, Gerard ^j   Carreira, Patricia ^k   Camps, Mayte ^l   Sabio, Jose M ^m   D'alfonso, Sandra ⁿ   Vonk, Madelon C ^c   Voskuyl, Alexandre E ^o   Schuerwegh, Annemie J ^p   Kreuter, Alexander ^q   Witte, Torsten ^r   Riemekasten, Gabriella ^s   Hunzelmann, Nicolas ^t   Airo, Paolo ^u   Beretta, Lorenzo ^v   Scorza, Raffaella ^v   Lunardi, Claudio ^w   Van Laar, Jacob ^x   Chee, Meng May ^y   Worthington, Jane ^z   Herrick, Arianne ^z   Denton, Christopher ^aa   Fonseca, Carmen ^aa   Tan, Filemon K ^b   Arnett, Frank ^b   Zhou, Xiaodong ^b   Reveille, John D ^b   Gorlova, Olga ^ab   Koeleman, Bobby P C ^ac   Radstake, Timothy R D J ^d   Vyse, Timothy ^ad   Mayes, Maureen D ^b   Alarcón Riquelme, Marta E ^ae   Martin, Javier ^a   more..

^a INSTITUTO DE PARASITOLOGÍA Y BIOMEDICINA LÓPEZ NEYRA   (Spain)

^b UNIVERSITY OF TEXAS   (United States)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UTRECHT UNIVERSITY   (Netherlands)

^e HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^f HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^g HOSPITAL UNIVERSITARIO DE LA PRINCESA   (Spain)

^h HOSPITAL UNIVERSITARIO SAN CECILIO   (Spain)

ⁱ HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^j HOSPITAL CLÍNIC   (Spain)

^k HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^l HOSPITAL REGIONAL UNIVERSITARIO DE MÁLAGA   (Spain)

^m HOSPITAL UNIVERSITARIO VIRGEN DE LAS NIEVES   (Spain)

ⁿ UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^o VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^p LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^q RUHR UNIVERSITY BOCHUM   (Germany)

^r HANNOVER MEDICAL SCHOOL   (Germany)

^s CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^t UNIVERSITY OF COLOGNE   (Germany)

^u SPEDALI CIVILI   (Italy)

^v UNIVERSITY OF MILAN   (Italy)

^w UNIVERSITY OF VERONA   (Italy)

^x NEWCASTLE UNIVERSITY   (United Kingdom)

^y GLASGOW ROYAL INFIRMARY   (United Kingdom)

^z UNIVERSITY OF MANCHESTER   (United Kingdom)

^aa ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^ab UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^ac UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^ad KING'S COLLEGE LONDON   (United Kingdom)

^ae UNIVERSITY OF GRANADA   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BLOOD CELL; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS; SYSTEMIC SCLEROSIS;

CASE-CONTROL STUDIES; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LUPUS ERYTHEMATOSUS, SYSTEMIC; NEOPLASM PROTEINS; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-SERINE-THREONINE KINASES; REPRODUCIBILITY OF RESULTS; RISK FACTORS; SCLERODERMA, SYSTEMIC;

EID: 84888993757     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt248     Document Type: Article

References (43)

1. Terao, C., Ohmura, K., Ikari, K., Kochi, Y., Maruya, E., Katayama, M., Yurugi, K., Shimada, K., Murasawa, A., Honjo, S. et al. (2012) ACPA-negative RA consists of two genetically distinct subsets based on RF positivity in Japanese. PLoS One, 7, e40067.
2. Gorlova, O., Martin, J.E., Rueda, B., Koeleman, B.P., Ying, J., Teruel, M., Diaz-Gallo, L.M., Broen, J.C., Vonk, M.C., Simeon, C.P. et al. (2011) Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. PLoS Genet., 7, e1002178.
3. Lundberg, K., Bengtsson, C., Kharlamova, N., Reed, E., Jiang, X., Kallberg, H., Pollak-Dorocic, I., Israelsson, L., Kessel, C., Padyukov, L. et al. (2012) Genetic and environmental determinants for disease risk in subsets of rheumatoid arthritis defined by the anticitrullinated protein/peptide antibody fine specificity profile. Ann. Rheum. Dis., 72, 652-658.
4. Mackie, S.L., Taylor, J.C., Martin, S.G., Wordsworth, P., Steer, S., Wilson, A.G., Worthington, J., Emery, P., Barrett, J.H. and Morgan, A.W. (2012) A spectrum of susceptibility to rheumatoid arthritis within HLA-DRB1: stratificationby autoantibody status in a largeUKpopulation. GenesImmun., 13, 120-128.
5. de Vries, R.R., van der Woude, D., Houwing, J.J. and Toes, R.E. (2011) Genetics of ACPA-positive rheumatoid arthritis: the beginning of the end? Ann. Rheum. Dis., 70, i51-54.
6. Padyukov, L., Seielstad, M., Ong, R.T., Ding, B., Ronnelid, J., Seddighzadeh, M., Alfredsson, L. and Klareskog, L. (2011)Agenome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. Ann. Rheum. Dis., 70, 259-265.
7. Sanchez, E., Nadig, A., Richardson, B.C., Freedman, B.I., Kaufman, K.M., Kelly, J.A., Niewold, T.B., Kamen, D.L., Gilkeson, G.S., Ziegler, J.T. et al. (2011) Phenotypic associations of genetic susceptibility loci in systemic lupus erythematosus. Ann. Rheum. Dis., 70, 1752-1757.
8. Chung, S.A., Taylor, K.E., Graham, R.R., Nititham, J., Lee, A.T., Ortmann, W.A., Jacob, C.O., Alarcon-Riquelme, M.E., Tsao, B.P., Harley, J.B. et al. (2011) Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. PLoS Genet., 7, e1001323.
9. Cho, J.H. and Gregersen, P.K. (2011)Genomicsand the multifactorial nature of human autoimmune disease. N. Engl. J. Med., 365, 1612-1623.
10. Festen, E.A., Goyette, P., Green, T., Boucher, G., Beauchamp, C., Trynka, G., Dubois, P.C., Lagace, C., Stokkers, P.C., Hommes, D.W. et al. (2011) A meta-analysis of genome-wide association scans identifies IL18RAP, PTPN2, TAGAP, and PUS10 as shared risk loci for Crohn's disease and celiac disease. PLoS Genet., 7, e1001283.
11. Zhernakova, A., Stahl, E.A., Trynka, G., Raychaudhuri, S., Festen, E.A., Franke, L., Westra, H.J., Fehrmann, R.S., Kurreeman, F.A., Thomson, B. et al. (2011) Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. PLoS Genet., 7, e1002004.
12. Ellinghaus, D., Ellinghaus, E., Nair, R.P., Stuart, P.E., Esko, T., Metspalu, A., Debrus, S., Raelson, J.V., Tejasvi, T., Belouchi, M. et al. (2012) Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci. Am. J. Hum. Genet., 90, 636-647.
13. Martin, J.E., Bossini-Castillo, L. and Martin, J. (2012) Unraveling the genetic component of systemic sclerosis. Hum. Genet., 131, 1023-1037.
14. Delgado-Vega, A., Sanchez, E., Lofgren, S., Castillejo-Lopez, C. and Alarcon-Riquelme, M.E. (2010) Recent findings on genetics of systemic autoimmune diseases. Curr. Opin. Immunol., 22, 698-705.
15. Harley, J.B., Alarcon-Riquelme, M.E., Criswell, L.A., Jacob, C.O., Kimberly, R.P., Moser, K.L., Tsao, B.P., Vyse, T.J., Langefeld, C.D., Nath, S.K. et al. (2008) Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat. Genet., 40, 204-210.
16. Radstake, T.R., Gorlova, O., Rueda, B., Martin, J.E., Alizadeh, B.Z., Palomino-Morales, R., Coenen, M.J., Vonk, M.C., Voskuyl, A.E., Schuerwegh, A.J. et al. (2010) Genome-wide association study of systemic sclerosis identifies CD247as a new susceptibility locus. Nat Genet, 42, 426-429.
17. Poelmans, G., Buitelaar, J.K., Pauls, D.L. and Franke, B. (2011) A theoretical molecular network for dyslexia: integrating available genetic findings. Mol Psychiatry, 16, 365-382.
18. Bycroft, M., Bateman, A., Clarke, J., Hamill, S.J., Sandford, R., Thomas, R.L. and Chothia, C. (1999) The structure of a PKD domain from polycystin-1: implications for polycystic kidney disease. EMBOJ., 18, 297-305.
19. Gateva, V., Sandling, J.K., Hom, G., Taylor, K.E., Chung, S.A., Sun, X., Ortmann, W., Kosoy, R., Ferreira, R.C., Nordmark, G. et al. (2009) A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Nat. Genet., 41, 1228-1233.
20. Takeuchi, H., Takeuchi, T., Gao, J., Cantley, L.C. and Hirata, M. (2010) Characterization of PXK as a protein involved in epidermal growth factor receptor trafficking. Mol. Cell. Biol., 30, 1689-1702.
21. Yu, B., Wu, Q., Chen, Y., Li, P., Shao, Y., Zhang, J., Zhong, Q., Peng, X., Yang, H., Hu, X. et al. (2011) Polymorphisms of PXK are associated with autoantibody production, but not disease risk, of systemic lupus erythematosus in Chinese mainland population. Lupus, 20, 23-27.
22. Soranzo, N., Rivadeneira, F., Chinappen-Horsley, U., Malkina, I., Richards, J.B.,Hammond, N., Stolk, L., Nica, A., Inouye, M., Hofman, A. et al. (2009) Meta-analysis of genome-wide scans for humanadult stature identifies novel loci and associations with measures of skeletal frame size. PLoS Genet., 5, e1000445.
23. Johansson, A., Marroni, F., Hayward, C., Franklin, C.S., Kirichenko, A.V., Jonasson, I., Hicks, A.A., Vitart, V., Isaacs, A., Axenovich, T. et al. (2009) Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis. Hum. Mol. Genet., 18, 373-380.
24. Martin, J.E., Broen, J.C., Carmona, F.D., Teruel, M., Simeon, C.P., Vonk, M.C., van 't Slot, R., Rodriguez-Rodriguez, L., Vicente, E., Fonollosa, V. et al. (2012) Identification of CSK as a systemic sclerosis genetic risk factor through genome wide association study follow-up. Hum. Mol. Genet., 21, 2825-2835.
25. Skhirtladze, C., Distler, O., Dees, C., Akhmetshina, A., Busch, N., Venalis, P., Zwerina, J., Spriewald, B., Pileckyte, M., Schett, G. et al. (2008) Src kinases in systemic sclerosis: central roles in fibroblast activation and in skin fibrosis. Arthritis Rheum., 58, 1475-1484.
26. Fietta, P. and Delsante, G. (2011) Psychiatric and neuropsychological manifestations of systemic lupus erythematosus. Acta Biomed., 82, 97-114.
27. Bertsias, G.K., Ioannidis, J.P., Aringer, M., Bollen, E., Bombardieri, S., Bruce, I.N., Cervera, R., Dalakas, M., Doria, A., Hanly, J.G. et al. (2010) EULAR Recommendations for the management of systemic lupus erythematosus with neuropsychiatric manifestations: report of a task force of the EULAR standing committee for clinical affairs. Ann. Rheum. Dis., 69, 2074-2082.
28. Baubet, T., Ranque, B., Taieb, O., Berezne, A., Bricou, O., Mehallel, S., Moroni, C., Belin, C., Pagnoux, C., Moro, M.R. et al. (2011) Mood and anxiety disorders in systemic sclerosis patients. Presse Med., 40, e111-e119.
29. Efthimiou, P. and Blanco, M. (2009) Pathogenesis of neuropsychiatric systemic lupus erythematosus and potential biomarkers. Mod. Rheumatol., 19, 457-468.
30. Sofat, N., Malik, O. and Higgens, C.S. (2006) Neurological involvement in patients with rheumatic disease. QJM, 99, 69-79.
31. Manetti, M., Guiducci, S., Romano, E., Rosa, I., Ceccarelli, C., Mello, T., Milia, A.F., Conforti, M.L., Ibba-Manneschi, L. and Matucci-Cerinic, M. (2013) Differential expression of junctional adhesion molecules in different stages of systemic sclerosis. Arthritis Rheum., 65, 247-257.
32. Yoshizaki, A., Yanaba, K., Iwata, Y., Komura, K., Ogawa, A., Akiyama, Y., Muroi, E., Hara, T., Ogawa, F., Takenaka, M. et al. (2010) Cell adhesion molecules regulate fibrotic process via Th1/Th2/Th17 cell balance in a bleomycin-induced scleroderma model. J. Immunol., 185, 2502-2515.
33. Rabquer, B.J., Hou, Y., Del Galdo, F., Kenneth Haines, G. 3rd., Gerber, M.L., Jimenez, S.A., Seibold, J.R. and Koch, A.E. (2009) The proadhesive phenotype of systemic sclerosis skin promotes myeloid cell adhesion via ICAM-1 and VCAM-1. Rheumatology (Oxford), 48, 734-740.
34. Raychaudhuri, S., Plenge, R.M., Rossin, E.J., Ng, A.C., Purcell, S.M., Sklar, P., Scolnick, E.M., Xavier, R.J., Altshuler, D. and Daly, M.J. (2009) Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions. PLoS Genet., 5, e1000534.
35. 1980) Preliminary criteria for the classification of systemic sclerosis (scleroderma). subcommittee for scleroderma criteria of the American Rheumatism Association Diagnostic and Therapeutic Criteria Committee. Arthritis Rheum., 23, 581-590.
36. LeRoy, E.C., Black, C., Fleischmajer, R., Jablonska, S., Krieg, T., Medsger, T.A. Jr., Rowell, N. and Wollheim, F. (1988) Scleroderma (systemic sclerosis): classification, subsets and pathogenesis. J. Rheumatol., 15, 202-205.
37. LeRoy, E.C. and Medsger, T.A. Jr. (2001) Criteria for the classification of early systemic sclerosis. J. Rheumatol., 28, 1573-1576.
38. Hochberg, M.C. (1997) Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum., 40, 1725.
39. Skol, A.D., Scott, L.J., Abecasis, G.R. and Boehnke, M.(2006) Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat. Genet., 38, 209-213.
40. Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M.A., Bender, D., Maller, J., Sklar, P., de Bakker, P.I., Daly, M.J. et al. (2007)PLINK:a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet., 81, 559-575.
41. Zhang, B., Kirov, S. and Snoddy, J. (2005) Webgestalt: an integrated system for exploring gene sets in various biological contexts. Nucleic Acids Res., 33, W741-W748.
42. Hochberg, Y. and Benjamini, Y. (1990) More powerful procedures for multiple significance testing. Stat. Med., 9, 811-818.
43. Assassi, S., Mayes, M.D., Arnett, F.C., Gourh, P., Agarwal, S.K., McNearney, T.A., Chaussabel, D., Oommen, N., Fischbach, M., Shah, K.R. et al. (2010) Systemic sclerosis and lupus: points in an interferon-mediated continuum. Arthritis Rheum., 62, 589-598.