Association of a non-synonymous functional variant of the ITGAM gene with systemic sclerosis

被引:14
作者
David Carmona, F. [1 ]
Simeon, Carmen P. [2 ]
Beretta, Lorenzo [3 ]
Carreira, Patricia [4 ]
Vonk, Madelon C. [5 ]
Rios-Fernandez, Raquel [6 ]
Espinosa, Gerard [7 ]
Navarrete, Nuria [8 ]
Vicente-Rabaneda, Esther [9 ]
Rodriguez-Rodriguez, Luis [10 ]
Tolosa, Carlos [11 ]
Garcia-Hernandez, Francisco J. [12 ]
Castellvi, Ivan [13 ]
Victoria Egurbide, Maria [14 ]
Fonollosa, Vicente [2 ]
Gonzalez-Gay, Miguel A. [15 ]
Rodriguez-Carballeira, Monica [16 ]
Diaz-Gonzalez, Federico [17 ]
Saez-Comet, Luis [18 ]
Hesselstrand, Roger [19 ]
Riemekasten, Gabriela [20 ]
Witte, Torsten [21 ]
Voskuyl, Alexandre E. [22 ]
Schuerwegh, Annemie J. [23 ]
Madhok, Rajan [24 ]
Shiels, Paul [24 ]
Fonseca, Carmen [25 ]
Denton, Christopher [25 ]
Nordin, Annika [26 ]
Palm, Oyvind [27 ]
Hoffmann-Vold, Anna-Maria [27 ]
Airo, Paolo [28 ]
Scorza, Raffaella [3 ]
Lunardi, Claudio [29 ]
van Laar, Jacob M. [30 ]
Hunzelmann, Nicolas [31 ]
Kreuter, Alexander [32 ]
Herrick, Ariane [33 ]
Worthington, Jane [33 ]
Koeleman, Bobby P. C. [34 ]
Radstake, Timothy R. D. J. [5 ]
Martin, Javier [1 ]
机构
[1] Consejo Super Invest Cient, Inst Parasitol & Biomed Lopez Neyra, Granada 18100, Spain
[2] Hosp Valle de Hebron, Dept Internal Med, Barcelona, Spain
[3] Univ Milan, Referral Ctr Syst Autoimmune Dis, Milan, Italy
[4] Hosp 12 Octubre, Dept Rheumatol, E-28041 Madrid, Spain
[5] Radboud Univ Nijmegen, Med Ctr, Dept Rheumatol, NL-6525 ED Nijmegen, Netherlands
[6] Hosp Clin Univ, Dept Internal Med, Granada, Spain
[7] Hosp Clin Barcelona, Dept Internal Med, Barcelona, Spain
[8] Hosp Virgen de las Nieves, Dept Internal Med, Granada, Spain
[9] Hosp Princesa, Dept Rheumatol, Madrid, Spain
[10] Hosp Clin San Carlos, Dept Rheumatol, Madrid, Spain
[11] Hosp Parc Tauli, Dept Internal Med, Sabadell, Spain
[12] Hosp Virgen del Rocio, Dept Internal Med, Seville, Spain
[13] Hosp Santa Creu & Sant Pau, Dept Rheumatol, Barcelona, Spain
[14] Hosp Cruces, Dept Internal Med, Baracaldo, Spain
[15] Hosp Univ Marques Valdecilla, Dept Rheumatol, IFIMAV, Santander, Spain
[16] Hosp Univ Mutua Terrassa, Dept Internal Med, Barcelona, Spain
[17] Hosp Univ Canarias, Dept Rheumatol, Tenerife, Spain
[18] Hosp Univ Miguel Servet, Dept Internal Med, Zaragoza, Spain
[19] Lund Univ, Dept Rheumatol, Lund, Sweden
[20] Charite, Dept Rheumatol & Clin Immunol, Berlin, Germany
[21] Hannover Med Sch, D-3000 Hannover, Germany
[22] Vrije Univ Amsterdam Med Ctr, Dept Rheumatol, Amsterdam, Netherlands
[23] Leiden Univ, Med Ctr, Dept Rheumatol, Leiden, Netherlands
[24] Univ Glasgow, Glasgow, Lanark, Scotland
[25] Royal Free & Univ Coll Med Sch, Ctr Rheumatol, London WC1E 6BT, England
[26] Karolinska Inst, Stockholm, Sweden
[27] Oslo Univ Hosp, Rikshosp, Dept Rheumatol, Oslo, Norway
[28] Clin Spedali Civili, Serv Reumatol & Immunol, Brescia, Italy
[29] Univ Verona, Dept Med, I-37100 Verona, Italy
[30] Newcastle Univ, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
[31] Univ Cologne, Dept Dermatol, D-5000 Cologne, Germany
[32] Ruhr Univ Bochum, Bochum, Germany
[33] Univ Manchester, Manchester Acad Hlth Sci Ctr, Arthritis Res UK Epidemiol Unit, Manchester, Lancs, England
[34] Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands
关键词
LUPUS-ERYTHEMATOSUS; REPLICATION; DISEASE;
D O I
10.1136/ard.2010.148874
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:2050 / U203
页数:3
相关论文
共 10 条
[1]   Systemic Sclerosis and Lupus Points in an Interferon-Mediated Continuum [J].
Assassi, Shervin ;
Mayes, Maureen D. ;
Arnett, Frank C. ;
Gourh, Pravitt ;
Agarwal, Sandeep K. ;
McNearney, Terry A. ;
Chaussabel, Damien ;
Oommen, Nancy ;
Fischbach, Michael ;
Shah, Kairav R. ;
Charles, Julio ;
Pascual, Virginia ;
Reveille, John D. ;
Tan, Filemon K. .
ARTHRITIS AND RHEUMATISM, 2010, 62 (02) :589-598
[2]   SURFACE EXPRESSION OF GP165/95, THE COMPLEMENT RECEPTOR CR3, AS A MARKER OF DISEASE-ACTIVITY IN SYSTEMIC LUPUS-ERYTHEMATOSUS [J].
BUYON, JP ;
SHADICK, N ;
BERKMAN, R ;
HOPKINS, P ;
DALTON, J ;
WEISSMANN, G ;
WINCHESTER, R ;
ABRAMSON, SB .
CLINICAL IMMUNOLOGY AND IMMUNOPATHOLOGY, 1988, 46 (01) :141-149
[3]   Heritability of Vasculopathy, Autoimmune Disease, and Fibrosis in Systemic Sclerosis A Population-Based Study [J].
Frech, Tracy ;
Khanna, Dinesh ;
Markewitz, Boaz ;
Mineau, Geraldine ;
Pimentel, Richard ;
Sawitzke, Allen .
ARTHRITIS AND RHEUMATISM, 2010, 62 (07) :2109-2116
[4]   Evaluation of imputation-based association in and around the integrin-α-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE) [J].
Han, Shizhong ;
Kim-Howard, Xana ;
Deshmukh, Harshal ;
Kamatani, Yoichiro ;
Viswanathan, Parvathi ;
Guthridge, Joel M. ;
Thomas, Kenaz ;
Kaufman, Kenneth M. ;
Ojwang, Joshua ;
Rojas-Villarraga, Adriana ;
Baca, Vicente ;
Orozco, Lorena ;
Rhodes, Benjamin ;
Choi, Chan-Bum ;
Gregersen, Peter K. ;
Merrill, Joan T. ;
James, Judith A. ;
Gaffney, Patrick M. ;
Moser, Kathy L. ;
Jacob, Chaim O. ;
Kimberly, Robert P. ;
Harley, John B. ;
Bae, Sang-Choel ;
Anaya, Juan-Manuel ;
Alarcon-Riquelme, Marta E. ;
Matsuda, Koichi ;
Vyse, Timothy J. ;
Nath, Swapan K. .
HUMAN MOLECULAR GENETICS, 2009, 18 (06) :1171-1180
[5]   Both Fcγ and complement receptors mediate transfer of immune complexes from erythrocytes to human macrophages under physiological flow conditions in vitro [J].
Hepburn, A. L. ;
Mason, J. C. ;
Wang, S. ;
Shepherd, C. J. ;
Florey, O. ;
Haskard, D. O. ;
Davies, K. A. .
CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 2006, 146 (01) :133-145
[6]   Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX [J].
Hom, Geoffrey ;
Graham, Robert R. ;
Modrek, Barmak ;
Taylor, Kimberly E. ;
Ortmann, Ward ;
Garnier, Sophie ;
Lee, Annette T. ;
Chung, Sharon A. ;
Ferreira, Ricardo C. ;
Pant, P. V. Krishna ;
Ballinger, Dennis G. ;
Kosoy, Roman ;
Demirci, F. Yesim ;
Kamboh, M. Ilyas ;
Kao, Amy H. ;
Tian, Chao ;
Gunnarsson, Iva ;
Bengtsson, Anders A. ;
Rantapaa-Dahlqvist, Solbritt ;
Petri, Michelle ;
Manzi, Susan ;
Seldin, Michael F. ;
Ronnblom, Lars ;
Syvanen, Ann-Christine ;
Criswell, Lindsey A. ;
Gregersen, Peter K. ;
Behrens, Timothy W. .
NEW ENGLAND JOURNAL OF MEDICINE, 2008, 358 (09) :900-909
[7]   The Genetics of Scleroderma [J].
Martin, Javier ;
Fonseca, Carmen .
CURRENT RHEUMATOLOGY REPORTS, 2011, 13 (01) :13-20
[8]   A nonsynonymous functional variant in integrin-αM (encoded by ITGAM) is associated with systemic lupus erythematosus [J].
Nath, Swapan K. ;
Han, Shizhong ;
Kim-Howard, Xana ;
Kelly, Jennifer A. ;
Viswanathan, Parvathi ;
Gilkeson, Gary S. ;
Chen, Wei ;
Zhu, Cheng ;
McEver, Rodger P. ;
Kimberly, Robert P. ;
Alarcon-Riquelme, Marta E. ;
Vyse, Timothy J. ;
Li, Quan-Zhen ;
Wakeland, Edward K. ;
Merrill, Joan T. ;
James, Judith A. ;
Kaufman, Kenneth M. ;
Guthridge, Joel M. ;
Harley, John B. .
NATURE GENETICS, 2008, 40 (02) :152-154
[9]   Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus [J].
Radstake, Timothy R. D. J. ;
Gorlova, Olga ;
Rueda, Blanca ;
Martin, Jose-Ezequiel ;
Alizadeh, Behrooz Z. ;
Palomino-Morales, Rogelio ;
Coenen, Marieke J. ;
Vonk, Madelon C. ;
Voskuyl, Alexandre E. ;
Schuerwegh, Annemie J. ;
Broen, Jasper C. ;
van Riel, Piet L. C. M. ;
van't Slot, Ruben ;
Italiaander, Annet ;
Ophoff, Roel A. ;
Riemekasten, Gabriela ;
Hunzelmann, Nico ;
Simeon, Carmen P. ;
Ortego-Centeno, Norberto ;
Gonzalez-Gay, Miguel A. ;
Gonzalez-Escribano, Maria F. ;
Airo, Paolo ;
van Laar, Jaap ;
Herrick, Ariane ;
Worthington, Jane ;
Hesselstrand, Roger ;
Smith, Vanessa ;
de Keyser, Filip ;
Houssiau, Fredric ;
Chee, Meng May ;
Madhok, Rajan ;
Shiels, Paul ;
Westhovens, Rene ;
Kreuter, Alexander ;
Kiener, Hans ;
de Baere, Elfride ;
Witte, Torsten ;
Padykov, Leonid ;
Klareskog, Lars ;
Beretta, Lorenzo ;
Scorza, Rafaella ;
Lie, Benedicte A. ;
Hoffmann-Vold, Anna-Maria ;
Carreira, Patricia ;
Varga, John ;
Hinchcliff, Monique ;
Gregersen, Peter K. ;
Lee, Annette T. ;
Ying, Jun ;
Han, Younghun .
NATURE GENETICS, 2010, 42 (05) :426-U71
[10]   Replication of recently identified systemic lupus erythematosus genetic associations: a case-control study [J].
Suarez-Gestal, Marian ;
Calaza, Manuel ;
Endreffy, Emoeke ;
Pullmann, Rudolf ;
Ordi-Ros, Josep ;
Sebastiani, Gian Domenico ;
Ruzickova, Sarka ;
Santos, Maria Jose ;
Papasteriades, Chryssa ;
Marchini, Maurizio ;
Skopouli, Fotini N. ;
Suarez, Ana ;
Blanco, Francisco J. ;
D'Alfonso, Sandra ;
Bijl, Marc ;
Carreira, Patricia ;
Witte, Torsten ;
Migliaresi, Sergio ;
Gomez-Reino, Juan J. ;
Gonzalez, Antonio .
ARTHRITIS RESEARCH & THERAPY, 2009, 11 (03)