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1. A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis

Author

Carmona, Francisco David, Vaglio, Augusto, Mackie, Sarah L., Hernández-Rodríguez, José, Monach, Paul A., Castañeda, Santos, Solans, Roser, Morado, Inmaculada C., Narváez, Francisco Javier, Ramentol-Sintas, Marc, Pease, Colin T., Dasgupta, Bhaskar, Watts, Richard, Khalidi, Nader A., Langford, Carol A., Ytterberg, Steven R., Boiardi, Luigi, Beretta, Lorenzo, Govoni, Marcello, Emmi, Giacomo, Bonatti, Francesco, Cimmino, Marco A., Witte, Torsten, Neumann, Thomas, Holle, Julia, Schönau, Verena, Sailler, Laurent, Papo, Thomas, Haroche, Julien, Mahr, Alfred, Mouthon, Luc, Molberg, Øyvind, Diamantopoulos, Andreas P., Voskuyl, Alexandre E., Brouwer, Elisabeth, Daikeler, Thomas, Berger, Christoph T., Molloy, Eamonn S., O'Neill, Lorraine, Blockmans, Daniel, Lie, Benedicte A., McLaren, Paul J, Vyse, Timothy J., Wijmenga, Cisca, Allanore, Yannick, Koeleman, Bobby P.C., Callejas-Rubio, José Luis, Caminal-Montero, Luis, Corbera-Bellalta, Marc, de Miguel, Eugenio, Spanish CGA Group, UKGCA Consortium, Vasculitis Clinical Research Consortium, Carmona, Francisco David, Vaglio, Augusto, Mackie, Sarah L., Hernández-Rodríguez, José, Monach, Paul A., Castañeda, Santos, Solans, Roser, Morado, Inmaculada C., Narváez, Francisco Javier, Ramentol-Sintas, Marc, Pease, Colin T., Dasgupta, Bhaskar, Watts, Richard, Khalidi, Nader A., Langford, Carol A., Ytterberg, Steven R., Boiardi, Luigi, Beretta, Lorenzo, Govoni, Marcello, Emmi, Giacomo, Bonatti, Francesco, Cimmino, Marco A., Witte, Torsten, Neumann, Thomas, Holle, Julia, Schönau, Verena, Sailler, Laurent, Papo, Thomas, Haroche, Julien, Mahr, Alfred, Mouthon, Luc, Molberg, Øyvind, Diamantopoulos, Andreas P., Voskuyl, Alexandre E., Brouwer, Elisabeth, Daikeler, Thomas, Berger, Christoph T., Molloy, Eamonn S., O'Neill, Lorraine, Blockmans, Daniel, Lie, Benedicte A., McLaren, Paul J, Vyse, Timothy J., Wijmenga, Cisca, Allanore, Yannick, Koeleman, Bobby P.C., Callejas-Rubio, José Luis, Caminal-Montero, Luis, Corbera-Bellalta, Marc, de Miguel, Eugenio, Spanish CGA Group, UKGCA Consortium, and Vasculitis Clinical Research Consortium

Published
2017

2. A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis

Author

MMB, UMC Utrecht, Genetica Groep Koeleman, Circulatory Health, Brain, Child Health, Carmona, Francisco David, Vaglio, Augusto, Mackie, Sarah L., Hernández-Rodríguez, José, Monach, Paul A., Castañeda, Santos, Solans, Roser, Morado, Inmaculada C., Narváez, Francisco Javier, Ramentol-Sintas, Marc, Pease, Colin T., Dasgupta, Bhaskar, Watts, Richard, Khalidi, Nader A., Langford, Carol A., Ytterberg, Steven R., Boiardi, Luigi, Beretta, Lorenzo, Govoni, Marcello, Emmi, Giacomo, Bonatti, Francesco, Cimmino, Marco A., Witte, Torsten, Neumann, Thomas, Holle, Julia, Schönau, Verena, Sailler, Laurent, Papo, Thomas, Haroche, Julien, Mahr, Alfred, Mouthon, Luc, Molberg, Øyvind, Diamantopoulos, Andreas P., Voskuyl, Alexandre E., Brouwer, Elisabeth, Daikeler, Thomas, Berger, Christoph T., Molloy, Eamonn S., O'Neill, Lorraine, Blockmans, Daniel, Lie, Benedicte A., McLaren, Paul J, Vyse, Timothy J., Wijmenga, Cisca, Allanore, Yannick, Koeleman, Bobby P.C., Callejas-Rubio, José Luis, Caminal-Montero, Luis, Corbera-Bellalta, Marc, de Miguel, Eugenio, Spanish CGA Group, UKGCA Consortium, Vasculitis Clinical Research Consortium, MMB, UMC Utrecht, Genetica Groep Koeleman, Circulatory Health, Brain, Child Health, Carmona, Francisco David, Vaglio, Augusto, Mackie, Sarah L., Hernández-Rodríguez, José, Monach, Paul A., Castañeda, Santos, Solans, Roser, Morado, Inmaculada C., Narváez, Francisco Javier, Ramentol-Sintas, Marc, Pease, Colin T., Dasgupta, Bhaskar, Watts, Richard, Khalidi, Nader A., Langford, Carol A., Ytterberg, Steven R., Boiardi, Luigi, Beretta, Lorenzo, Govoni, Marcello, Emmi, Giacomo, Bonatti, Francesco, Cimmino, Marco A., Witte, Torsten, Neumann, Thomas, Holle, Julia, Schönau, Verena, Sailler, Laurent, Papo, Thomas, Haroche, Julien, Mahr, Alfred, Mouthon, Luc, Molberg, Øyvind, Diamantopoulos, Andreas P., Voskuyl, Alexandre E., Brouwer, Elisabeth, Daikeler, Thomas, Berger, Christoph T., Molloy, Eamonn S., O'Neill, Lorraine, Blockmans, Daniel, Lie, Benedicte A., McLaren, Paul J, Vyse, Timothy J., Wijmenga, Cisca, Allanore, Yannick, Koeleman, Bobby P.C., Callejas-Rubio, José Luis, Caminal-Montero, Luis, Corbera-Bellalta, Marc, de Miguel, Eugenio, Spanish CGA Group, UKGCA Consortium, and Vasculitis Clinical Research Consortium

Published
2017

3. A Large-Scale Genetic Analysis Reveals a Strong Contribution of the HLA Class II Region to Giant Cell Arteritis Susceptibility

Author

David Carmona, F., Mackie, Sarah L., Martin, Jose-Ezequiel, Taylor, John C., Vaglio, Augusto, Eyre, Stephen, Bossini-Castillo, Lara, Castaneda, Santos, Cid, Maria C., Hernandez-Rodriguez, Jose, Prieto-Gonzalez, Sergio, Solans, Roser, Ramentol-Sintas, Marc, Francisca Gonzalez-Escribano, M., Ortiz-Fernandez, Lourdes, Morado, Inmaculada C., Narvaez, Javier, Miranda-Filloy, Jose A., Beretta, Lorenzo, Lunardi, Claudio, Cimmino, Marco A., Gianfreda, Davide, Santilli, Daniele, Ramirez, Giuseppe A., Soriano, Alessandra, Muratore, Francesco, Pazzola, Giulia, Addimanda, Olga, Wijmenga, Cisca, Witte, Torsten, Schirmer, Jan H., Moosig, Frank, Schoenau, Verena, Franke, Andre, Palm, Oyvind, Molberg, Oyvind, Diamantopoulos, Andreas P., Carette, Simon, Cuthbertson, David, Forbess, Lindsy J., Hoffman, Gary S., Khalidi, Nader A., Koening, Curry L., Langford, Carol A., McAlear, Carol A., Moreland, Larry, Monach, Paul A., Pagnoux, Christian, Koeleman, Bobby P. C., de Bakker, Paul I. W., Spanish GCA Grp, David Carmona, F., Mackie, Sarah L., Martin, Jose-Ezequiel, Taylor, John C., Vaglio, Augusto, Eyre, Stephen, Bossini-Castillo, Lara, Castaneda, Santos, Cid, Maria C., Hernandez-Rodriguez, Jose, Prieto-Gonzalez, Sergio, Solans, Roser, Ramentol-Sintas, Marc, Francisca Gonzalez-Escribano, M., Ortiz-Fernandez, Lourdes, Morado, Inmaculada C., Narvaez, Javier, Miranda-Filloy, Jose A., Beretta, Lorenzo, Lunardi, Claudio, Cimmino, Marco A., Gianfreda, Davide, Santilli, Daniele, Ramirez, Giuseppe A., Soriano, Alessandra, Muratore, Francesco, Pazzola, Giulia, Addimanda, Olga, Wijmenga, Cisca, Witte, Torsten, Schirmer, Jan H., Moosig, Frank, Schoenau, Verena, Franke, Andre, Palm, Oyvind, Molberg, Oyvind, Diamantopoulos, Andreas P., Carette, Simon, Cuthbertson, David, Forbess, Lindsy J., Hoffman, Gary S., Khalidi, Nader A., Koening, Curry L., Langford, Carol A., McAlear, Carol A., Moreland, Larry, Monach, Paul A., Pagnoux, Christian, Koeleman, Bobby P. C., de Bakker, Paul I. W., and Spanish GCA Grp

Published
2015

4. A Large-Scale Genetic Analysis Reveals a Strong Contribution of the HLA Class II Region to Giant Cell Arteritis Susceptibility

Author

Genetica Groep Koeleman, Child Health, CMM Groep Kaaij, Infection & Immunity, JC onderzoeksprogramma Methodologie, Cancer, David Carmona, F., Mackie, Sarah L., Martin, Jose-Ezequiel, Taylor, John C., Vaglio, Augusto, Eyre, Stephen, Bossini-Castillo, Lara, Castaneda, Santos, Cid, Maria C., Hernandez-Rodriguez, Jose, Prieto-Gonzalez, Sergio, Solans, Roser, Ramentol-Sintas, Marc, Francisca Gonzalez-Escribano, M., Ortiz-Fernandez, Lourdes, Morado, Inmaculada C., Narvaez, Javier, Miranda-Filloy, Jose A., Beretta, Lorenzo, Lunardi, Claudio, Cimmino, Marco A., Gianfreda, Davide, Santilli, Daniele, Ramirez, Giuseppe A., Soriano, Alessandra, Muratore, Francesco, Pazzola, Giulia, Addimanda, Olga, Wijmenga, Cisca, Witte, Torsten, Schirmer, Jan H., Moosig, Frank, Schoenau, Verena, Franke, Andre, Palm, Oyvind, Molberg, Oyvind, Diamantopoulos, Andreas P., Carette, Simon, Cuthbertson, David, Forbess, Lindsy J., Hoffman, Gary S., Khalidi, Nader A., Koening, Curry L., Langford, Carol A., McAlear, Carol A., Moreland, Larry, Monach, Paul A., Pagnoux, Christian, Koeleman, Bobby P. C., de Bakker, Paul I. W., Spanish GCA Grp, Genetica Groep Koeleman, Child Health, CMM Groep Kaaij, Infection & Immunity, JC onderzoeksprogramma Methodologie, Cancer, David Carmona, F., Mackie, Sarah L., Martin, Jose-Ezequiel, Taylor, John C., Vaglio, Augusto, Eyre, Stephen, Bossini-Castillo, Lara, Castaneda, Santos, Cid, Maria C., Hernandez-Rodriguez, Jose, Prieto-Gonzalez, Sergio, Solans, Roser, Ramentol-Sintas, Marc, Francisca Gonzalez-Escribano, M., Ortiz-Fernandez, Lourdes, Morado, Inmaculada C., Narvaez, Javier, Miranda-Filloy, Jose A., Beretta, Lorenzo, Lunardi, Claudio, Cimmino, Marco A., Gianfreda, Davide, Santilli, Daniele, Ramirez, Giuseppe A., Soriano, Alessandra, Muratore, Francesco, Pazzola, Giulia, Addimanda, Olga, Wijmenga, Cisca, Witte, Torsten, Schirmer, Jan H., Moosig, Frank, Schoenau, Verena, Franke, Andre, Palm, Oyvind, Molberg, Oyvind, Diamantopoulos, Andreas P., Carette, Simon, Cuthbertson, David, Forbess, Lindsy J., Hoffman, Gary S., Khalidi, Nader A., Koening, Curry L., Langford, Carol A., McAlear, Carol A., Moreland, Larry, Monach, Paul A., Pagnoux, Christian, Koeleman, Bobby P. C., de Bakker, Paul I. W., and Spanish GCA Grp

Published
2015

5. A Large-Scale Genetic Analysis Reveals a Strong Contribution of the HLA Class II Region to Giant Cell Arteritis Susceptibility.

Author

Carmona, F. David, Mackie, Sarah L., Martín, Jose-Ezequiel, Taylor, John C., Vaglio, Augusto, Eyre, Stephen, Bossini-Castillo, Lara, Castañeda, Santos, Cid, Maria C., Hernández-Rodríguez, José, Prieto-González, Sergio, Solans, Roser, Ramentol-Sintas, Marc, González-Escribano, M. Francisca, Ortiz-Fernández, Lourdes, Morado, Inmaculada C., Narváez, Javier, Miranda-Filloy, José A., Beretta, Lorenzo, and Lunardi, Claudio

Subjects
*HLA histocompatibility antigens, *GIANT cell arteritis, *DISEASE susceptibility, *VASCULITIS, *IMMUNE response, *CELLULAR signal transduction
Abstract

We conducted a large-scale genetic analysis on giant cell arteritis (GCA), a polygenic immune-mediated vasculitis. A case-control cohort, comprising 1,651 case subjects with GCA and 15,306 unrelated control subjects from six different countries of European ancestry, was genotyped by the Immunochip array. We also imputed HLA data with a previously validated imputation method to perform a more comprehensive analysis of this genomic region. The strongest association signals were observed in the HLA region, with rs477515 representing the highest peak (p = 4.05 × 10 −40 , OR = 1.73). A multivariate model including class II amino acids of HLA-DRβ1 and HLA-DQα1 and one class I amino acid of HLA-B explained most of the HLA association with GCA, consistent with previously reported associations of classical HLA alleles like HLA-DRB1 ∗ 04. An omnibus test on polymorphic amino acid positions highlighted DRβ1 13 (p = 4.08 × 10 −43 ) and HLA-DQα1 47 (p = 4.02 × 10 −46 ), 56, and 76 (both p = 1.84 × 10 −45 ) as relevant positions for disease susceptibility. Outside the HLA region, the most significant loci included PTPN22 (rs2476601, p = 1.73 × 10 −6 , OR = 1.38), LRRC32 (rs10160518, p = 4.39 × 10 −6 , OR = 1.20), and REL (rs115674477, p = 1.10 × 10 −5 , OR = 1.63). Our study provides evidence of a strong contribution of HLA class I and II molecules to susceptibility to GCA. In the non-HLA region, we confirmed a key role for the functional PTPN22 rs2476601 variant and proposed other putative risk loci for GCA involved in Th1, Th17, and Treg cell function. [ABSTRACT FROM AUTHOR]

Published
2015
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6. A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis.

Author

Carmona, F. David, Vaglio, Augusto, Mackie, Sarah L., Hernández-Rodríguez, José, Monach, Paul A., Castañeda, Santos, Solans, Roser, Morado, Inmaculada C., Narváez, Javier, Ramentol-Sintas, Marc, Pease, Colin T., Dasgupta, Bhaskar, Watts, Richard, Khalidi, Nader, Langford, Carol A., Ytterberg, Steven, Boiardi, Luigi, Beretta, Lorenzo, Govoni, Marcello, and Emmi, Giacomo

Subjects
*GENOMES, *ALLELES, *PLASMINOGEN, *ARTERITIS, *PATHOLOGICAL physiology
Abstract

Giant cell arteritis (GCA) is the most common form of vasculitis in individuals older than 50 years in Western countries. To shed light onto the genetic background influencing susceptibility for GCA, we performed a genome-wide association screening in a well-powered study cohort. After imputation, 1,844,133 genetic variants were analyzed in 2,134 case subjects and 9,125 unaffected individuals from ten independent populations of European ancestry. Our data confirmed HLA class II as the strongest associated region (independent signals: rs9268905, p = 1.94 × 10 −54 , per-allele OR = 1.79; and rs9275592, p = 1.14 × 10 −40 , OR = 2.08). Additionally, PLG and P4HA2 were identified as GCA risk genes at the genome-wide level of significance (rs4252134, p = 1.23 × 10 −10 , OR = 1.28; and rs128738, p = 4.60 × 10 −9 , OR = 1.32, respectively). Interestingly, we observed that the association peaks overlapped with different regulatory elements related to cell types and tissues involved in the pathophysiology of GCA. PLG and P4HA2 are involved in vascular remodelling and angiogenesis, suggesting a high relevance of these processes for the pathogenic mechanisms underlying this type of vasculitis. [ABSTRACT FROM AUTHOR]

Published
2017
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