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1. Transancestral mapping and genetic load in systemic lupus erythematosus

Author

Carl D. Langefeld, Hannah C. Ainsworth, Deborah S. Cunninghame Graham, Jennifer A. Kelly, Mary E. Comeau, Miranda C. Marion, Timothy D. Howard, Paula S. Ramos, Jennifer A. Croker, David L. Morris, Johanna K. Sandling, Jonas Carlsson Almlöf, Eduardo M. Acevedo-Vásquez, Graciela S. Alarcón, Alejandra M. Babini, Vicente Baca, Anders A. Bengtsson, Guillermo A. Berbotto, Marc Bijl, Elizabeth E. Brown, Hermine I. Brunner, Mario H. Cardiel, Luis Catoggio, Ricard Cervera, Jorge M. Cucho-Venegas, Solbritt Rantapää Dahlqvist, Sandra D’Alfonso, Berta Martins Da Silva, Iñigo de la Rúa Figueroa, Andrea Doria, Jeffrey C. Edberg, Emőke Endreffy, Jorge A. Esquivel-Valerio, Paul R. Fortin, Barry I. Freedman, Johan Frostegård, Mercedes A. García, Ignacio García de la Torre, Gary S. Gilkeson, Dafna D. Gladman, Iva Gunnarsson, Joel M. Guthridge, Jennifer L. Huggins, Judith A. James, Cees G. M. Kallenberg, Diane L. Kamen, David R. Karp, Kenneth M. Kaufman, Leah C. Kottyan, László Kovács, Helle Laustrup, Bernard R. Lauwerys, Quan-Zhen Li, Marco A. Maradiaga-Ceceña, Javier Martín, Joseph M. McCune, David R. McWilliams, Joan T. Merrill, Pedro Miranda, José F. Moctezuma, Swapan K. Nath, Timothy B. Niewold, Lorena Orozco, Norberto Ortego-Centeno, Michelle Petri, Christian A. Pineau, Bernardo A. Pons-Estel, Janet Pope, Prithvi Raj, Rosalind Ramsey-Goldman, John D. Reveille, Laurie P. Russell, José M. Sabio, Carlos A. Aguilar-Salinas, Hugo R. Scherbarth, Raffaella Scorza, Michael F. Seldin, Christopher Sjöwall, Elisabet Svenungsson, Susan D. Thompson, Sergio M. A. Toloza, Lennart Truedsson, Teresa Tusié-Luna, Carlos Vasconcelos, Luis M. Vilá, Daniel J. Wallace, Michael H. Weisman, Joan E. Wither, Tushar Bhangale, Jorge R. Oksenberg, John D. Rioux, Peter K. Gregersen, Ann-Christine Syvänen, Lars Rönnblom, Lindsey A. Criswell, Chaim O. Jacob, Kathy L. Sivils, Betty P. Tsao, Laura E. Schanberg, Timothy W. Behrens, Earl D. Silverman, Marta E. Alarcón-Riquelme, Robert P. Kimberly, John B. Harley, Edward K. Wakeland, Robert R. Graham, Patrick M. Gaffney, and Timothy J. Vyse

Subjects
Science
Abstract

Systemic lupus erythematosus (SLE) is an autoimmune disease with a strong ethnic and gender bias. In a transancestral genetic association study, Langefeldet al. identify 24 novel regions associated with risk to lupus and propose a cumulative hits hypothesis for loci conferring risk to SLE.

Published
2017
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2. Efecto de los antimaláricos sobre los diferentes dominios del índice de daño SLICC en pacientes de la cohorte GLADEL

Author

Guillermo J. Pons-Estel, Rosana Quintana, Daniel Wojdyla, Graciela S. Alarcón, Rosa María Serrano, Manuel Ugarte-Gil, Víctor Pimentel-Quiroz, Enrique R. Soriano, Luis J. Catoggio, Marina Scolnik, Mónica Sacnun, Verónica Saurit, Francisco Caeiro, Alejandro Alvarellos, Judith Sarano, Mercedes García, Laura Onetti, Cristina Drenkard, Guillermo Berbotto, Hugo R. Scherbarth, Emilia Sato, Eloisa Bonfa, Eduardo Ferreira Borba, Lilian Costallat, Ricardo Xavier, Joao C. Tavares Brenol, Nilzio A. Da Silva, Fernando Cavalcanti, Loreto Massardo, Sergio Jacobelli, Oscar Neira, José F. Molina, Gloria Vásquez, José A. Gómez-Puerta, Luis Alonso Gonzalez, Antonio Iglesias Gamarra, Marlene Guibert-Toledano, Gil A. Reyes, Mario H. Cardiel, Virginia Pascual-Ramos, Ignacio García de la Torre, Leonor Barile, Luis H. Silveira, Mary-Carmen Amigo, María Josefina Sauza del Pozo, Eduardo M. Acevedo-Vásquez, José Alfaro-Lozano, María Inés Segami, Rosa Chacón-Díaz, Isaac Abadi, María H. Esteva Spinetti, and Bernardo A. Pons-Estel

Subjects
antimaláricos, lupus eritematoso sistémico, daño acumulado, Medicine
Abstract

Objetivos: estimar el efecto de los antimaláricos (AM) sobre los diferentes dominios del índice de daño SLICC (SDI). Métodos: se estudiaron pacientes con diagnóstico clínico reciente (≤2 años) de lupus eritematoso sistémico (LES) de la cohorte GLADEL.

Published
2018
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3. Pleuropulmonary involvement in patients with systemic lupus erythematosus from a Latin American inception cohort (GLADEL)

Author

J C Tavares Brenol, Francisco Caeiro, G A Reyes Llerena, E M Acevedo Vásquez, M H Esteva Spinetti, Luis H. Silveira, M J Sauza del Pozo, A Iglesias Gamarra, B A Pons-Estel, J. Alfaro Lozano, Leonor A Barile-Fabris, Alejandro Alvarellos, L T Lavras Costallat, Daniel Wojdyla, A C de O e Silva, M J Haye Salinas, Gloria Vásquez, Hugo R. Scherbarth, Verónica Saurit, Graciela S. Alarcón, and Oscar Neira

Subjects
Lung Diseases, Adult, Male, medicine.medical_specialty, Heart disease, Epidemiology, Disease, Severity of Illness Index, Cohort Studies, 03 medical and health sciences, pulmonary systemic lupus erythematosus, 0302 clinical medicine, Rheumatology, Internal medicine, Lower respiratory tract infection, Severity of illness, Lupus Erythematosus, Systemic/complications/mortality, medicine, Lupus Erythematosus, Systemic, Humans, Pleurisy, Respiratory Tract Infections, Pleurisy/etiology, purl.org/pe-repo/ocde/ford#3.02.17 [https], 030203 arthritis & rheumatology, business.industry, Lung Diseases/etiology, medicine.disease, Respiratory Tract Infections/etiology, medicine.anatomical_structure, 030228 respiratory system, Female, business, Respiratory tract, Cohort study
Abstract

Objectives The objectives of this study were to examine the demographic and clinical features associated with the occurrence of pleuropulmonary manifestations, the predictive factors of their occurrence and their impact on mortality in systemic lupus erythematosus (SLE) patients. Materials and methods The association of pleuropulmonary manifestations with demographic and clinical features, the predictive factors of their occurrence and their impact on mortality were examined in GLADEL patients by appropriate univariable and multivariable analyses. Results At least one pleuropulmonary manifestation occurred in 421 of the 1480 SLE patients (28.4%), pleurisy being the most frequent (24.0%). Age at SLE onset ≥30 years (OR 1.42; 95% CI 1.10–1.83), the presence of lower respiratory tract infection (OR 3.19; 95% CI 2.05–4.96), non-ischemic heart disease (OR 3.17; 95% CI 2.41–4.18), ischemic heart disease (OR 3.39; 95% CI 2.08–5.54), systemic (OR 2.00; 95% CI 1.37–2.91), ocular (OR 1.58; 95% CI 1.16–2.14) and renal manifestations (OR 1.44; 95% CI 1.09–1.83) were associated with pleuropulmonary manifestations, whereas cutaneous manifestations were negatively associated (OR 0.47; 95% CI 0.29–0.76). Non-ischemic heart disease (HR 2.24; 95% CI 1.63–3.09), SDI scores ≥1 (OR 1.54; 95% CI 1.10–2.17) and anti-La antibody positivity (OR 2.51; 95% CI 1.39–4.57) independently predicted their subsequent occurrence. Cutaneous manifestations were protective of the subsequent occurrence of pleuropulmonary manifestations (HR 0.62; 95% CI 0.43–0.90). Pleuropulmonary manifestations independently contributed a decreased survival (HR: 2.79 95% CI 1.80–4.31). Conclusion Pleuropulmonary manifestations are frequent in SLE, particularly pleuritis. Older age, respiratory tract infection, cardiac, systemic and renal involvement were associated with them, whereas cutaneous manifestations were negatively associated. Cardiac compromise, SDI scores ≥1 and anti-La positivity at disease onset were predictive of their subsequent occurrence, whereas cutaneous manifestations were protective. They independently contributed to a decreased survival in these patients.

Published
2017
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4. Genome-Wide Association Study in an Amerindian Ancestry Population Reveals Novel Systemic Lupus Erythematosus Risk Loci and the Role of European Admixture

Author

Lindsey A. Criswell, Swapan K. Nath, Astrid Rasmussen, Hugo R. Scherbarth, Teresa Tusié-Luna, Alejandra Babini, José Francisco Moctezuma, Jennifer A. Kelly, Robert P. Kimberly, Adam Adler, Patricia Ortiz-Tello, Sergio Toloza, Carl D. Langefeld, Marta E. Alarcón-Riquelme, Carlos Aguilar Salinas, Andrés Moreno-Estrada, Mercedes A. García, Chaim O. Jacob, Jorge M. Cucho-Venegas, Eduardo M. Acevedo-Vázquez, Raphael Zidovetzki, Mario H. Cardiel, Lorena Orozco, Guillermo A. Berbotto, Pedro Miranda, Jorge A. Esquivel-Valerio, Betty P. Tsao, Hannah C. Ainsworth, Bernardo A. Pons-Estel, Timothy J. Vyse, Vicente Baca, Judith A. James, Julio E. Molineros, Ignacio García-De La Torre, Luis J. Catoggio, Patrick M. Gaffney, Elena Sánchez-Rodríguez, Kenneth M. Kaufman, Kathy L. Sivils, Julie T. Ziegler, John B. Harley, Mary E. Comeau, Marco A. Maradiaga-Ceceña, Timothy D. Howard, and Sang Cheol Bae

Subjects
0301 basic medicine, Genetics, education.field_of_study, Lupus erythematosus, Immunology, Haplotype, Population, Locus (genetics), Genome-wide association study, Human leukocyte antigen, Biology, medicine.disease, 03 medical and health sciences, 030104 developmental biology, Rheumatology, Expression quantitative trait loci, medicine, Immunology and Allergy, education, Imputation (genetics)
Abstract

Objective Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with a strong genetic component. We undertook the present work to perform the first genome-wide association study on individuals from the Americas who are enriched for Native American heritage. Methods We analyzed 3,710 individuals from the US and 4 countries of Latin America who were diagnosed as having SLE, and healthy controls. Samples were genotyped with HumanOmni1 BeadChip. Data on out-of-study controls genotyped with HumanOmni2.5 were also included. Statistical analyses were performed using SNPtest and SNPGWA. Data were adjusted for genomic control and false discovery rate. Imputation was performed using Impute2 and, for classic HLA alleles, HiBag. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated. Results The IRF5–TNPO3 region showed the strongest association and largest OR for SLE (rs10488631: genomic control–adjusted P [Pgcadj] = 2.61 × 10−29, OR 2.12 [95% CI 1.88–2.39]), followed by HLA class II on the DQA2–DQB1 loci (rs9275572: Pgcadj = 1.11 × 10−16, OR 1.62 [95% CI 1.46–1.80] and rs9271366: Pgcadj = 6.46 × 10−12, OR 2.06 [95% CI 1.71–2.50]). Other known SLE loci found to be associated in this population were ITGAM, STAT4, TNIP1, NCF2, and IRAK1. We identified a novel locus on 10q24.33 (rs4917385: Pgcadj = 1.39 × 10−8) with an expression quantitative trait locus (eQTL) effect (Peqtl = 8.0 × 10−37 at USMG5/miR1307), and several new suggestive loci. SLE risk loci previously identified in Europeans and Asians were corroborated. Local ancestry estimation showed that the HLA allele risk contribution is of European ancestral origin. Imputation of HLA alleles suggested that autochthonous Native American haplotypes provide protection against development of SLE. Conclusion Our results demonstrate that studying admixed populations provides new insights in the delineation of the genetic architecture that underlies autoimmune and complex diseases.

Published
2016
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5. CS-08 Effect of antimalarials over the different domains of the damage index in latin american SLE patients

Author

Bernardo A. Pons-Estel, Alejandro Alvarellos, Judith Sarano, Mary Carmen Amigo, Eduardo Ferreira Borba, Cristina Drenkard, Daniel Wojdyla, María H Esteva Spinetti, Rosa María Serrano, Luis H. Silveira, J.L. Alfaro-Lozano, Guillermo A. Berbotto, Marina Scolnik, Rosa Chacón-Diaz, Rosana Quintana, Lilian Tereza Lavras Costallat, Eduardo Acevedo-Vásquez, Graciela S. Alarcón, Laura Onetti, Victor R. Pimentel-Quiroz, Francisco Caeiro, Gil A Reyes, Mario H. Cardiel, Sergio Jacobelli, João Carlos Tavares Brenol, Enrique R. Soriano, Leonor A Barile, José A. Gómez-Puerta, Virginia Pascual-Ramos, Luis Alonso González, Mónica P. Sacnun, Verónica Saurit, María Inés Segami, Fernando Cavalcanti, Ignacio García-De La Torre, Luis J. Catoggio, Nilizio A Da Silva, Antonio Iglesias Gamarra, Manuel F. Ugarte-Gil, Mercedes A. García, Oscar Neira, Hugo R. Scherbarth, María Josefina Sauza del Pozo, Loreto Massardo, Eloisa Bonfa, Marlene Guibert-Toledano, Guillermo J. Pons-Estel, Emilia Sato, José Fernando Molina, Gloria Vásquez, and Ricardo Machado Xavier

Subjects
medicine.medical_specialty, Systemic lupus erythematosus, business.industry, Proportional hazards model, Confounding, medicine.disease, Lower risk, Malignancy, Median follow-up, Internal medicine, Diabetes mellitus, Cohort, medicine, business
Abstract

Background We have previously shown that Latin American SLE patients treated with Antimalarials (AMs) have a 25% lower risk of damage accrual than patients not receiving them. The present study was conducted to assess the effects of AMs over the 12 items of the SLICC Damage Index, (SDI). Methods Patients with a recent SLE diagnosis (≤2 years) from the GLADEL cohort were studied. End-point: Increase in the 12 items SDI since cohort entry. Independent (socio-demographic, clinical laboratory and treatment) variables were included. The effect of AMs as a time dependent variable on items of the SDI (adjusting for potential confounders) was examined with a multivariable Cox regression model. Multivariate models were developed for the most common SDI items. Results Of the 1466 patients included in this analysis 1049 (72%) received AMs during follow-up (as defined); median exposure time: 30 months (Q1-Q3: 11–57 months). Total damage accrual occurred in 665 (45%) patients during a median follow up time of 24 months (Q1-Q3: 8–55) months. Within the 12 items of the SDI there were 301 integument, 208 renal, 149 neuropsychiatric, 98 musculoskeletal, 88 cardiovascular, 65 ocular, 43 pulmonary, 42 peripheral vascular, 33 gastrointestinal, 22 premature gonadal failure, 16 diabetes and 9 malignancy. After adjusting for potential confounders, at any time during follow-up a patient on AMs had a 35% and 30% lower risk of renal and neuropsychiatric damage accrual respectively than a patient not on AMs (adjusted HR 0.65, 95% CI 0.47 to 0.90 and HR 0.70, 95% CI 0.48 to 1.02). Such protective effect was not evident for integument, musculoskeletal and cardiovascular damage. Table 1. Conclusions After adjustment for possible confounding factors related to AMs use and damage accrual, AMs were independently associated with a reduced risk of renal and neuropsychiatric damage accrual in this cohort. Acknowledgements On behalf of the Grupo Latinoamericano de Estudio del Lupus (GLADEL).

Published
2018
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6. Genetic associations of leptin-related polymorphisms with systemic lupus erythematosus

Author

Marta E. Alarcón-Riquelme, Ignacio García-De La Torre, Luis J. Catoggio, Timothy B. Niewold, Ana I. Marcos, Barry I. Freedman, Pilar C. Marino, Marisa Jorfen, Griselda Buchanan, Marcelo Abdala, Anne M. Stevens, Fernando A. Ramos, Emoke Endreffy, Sandra M. Navarro, Ana M. Bertoli, Sergio Migliarese, Jorge Manni, Jose L. Presas, César Graf, László Kovács, Hye jin Jeong, John B. Harley, Berta Martins da Silva, Cesar Caprarulo, Guillermo Tate, Jennifer M. Grossman, Julio Sánchez-Román, Jian Zhao, Javier Martin, Cristina G. Battagliotti, Estela Bertero, Chaim O. Jacob, Carlos E. Perandones, Kenneth M. Kaufman, Guillermo A. Berbotto, Alberto Allievi, John D. Reveille, Sebastian Grimaudo, Estela L. Motta, Susana Gamron, Yeong Wook Song, Mario Cardiel Ríos, José Luis Callejas, Gary S. Gilkeson, Mercedes A. García, Hugo R. Scherbarth, Kathy Moser Sivils, María Francisca González-Escribano, Alejandro Alvarellos, Antonio La Cava, Mariano Cucho, Joan T. Merrill, Carlos D. Santos, Torsten Witte, Cristina Drenkard, R. Hal Scofield, Seung Taek Song, Cristina Prigione, Lindsey A. Criswell, Mariela Bearzotti, Deh Ming Chang, José Mario Sabio, Francisco Caeiro, Mauro Galeazzi, Rosalind Ramsey-Goldman, Simon A. Palatnik, Lennart Truedsson, Marco Maradiaga Ceceña, Johan Frostegård, Susan A. Boackle, Sanatorio Parque, Francisco Moctezuma, Hui Wu, Juan Carlos Marcos, Eduardo Acevedo, Timothy J. Vyse, Jennifer A. Kelly, Michelle Petri, Carlos Vasconcelos, Sandra D'Alfonso, Elizabeth E. Brown, Norberto Ortego-Centeno, Betty P. Tsao, Enrique de Ramón, Juan-Manuel Anaya, Diane L. Kamen, Emilia Menso, Gian Domenico Sebastiani, Patrick M. Gaffney, Judith A. James, Sang Cheol Bae, Susana Roverano, Carolina Guillerón, Jeffrey C. Edberg, Enrique R. Soriano, Carl D. Langefeld, Elisa J. Romero, Alicia Eimon, Bevra H. Hahn, Robert P. Kimberly, Luis M. Vilá, Graciela S. Alarcón, Sergio Paira, Bernard Lauwerys, Zhao, J., Wu, H., Langefeld, C. D., Kaufman, K. M., Kelly, J. A., Bae, S. -C., Alarcon-Riquelme, M. E., Alarcon, G. S., Anaya, J. -M., Criswell, L. A., Freedman, B. I., Kamen, D. L., Gilkeson, G. S., Jacob, C. O., James, J. A., Merrill, J. T., Gaffney, P. M., Sivils, K. M., Niewold, T. B., Petri, M. A., Song, S. T., Jeong, H. -J., Ramsey-Goldman, R., Reveille, J. D., Hal Scofield, R., Stevens, A. M., Boackle, S. A., Vila, L. M., Chang, D. -M., Song, Y. W., Vyse, T. J., Harley, J. B., Brown, E. E., Edberg, J. C., Kimberly, R. P., Hahn, B. H., Grossman, J. M., Tsao, B. P., La Cava, A., Frostegard, J., Truedsson, L., de Ramon, E., Sabio, J. M., Gonzalez-Escribano, M. F., Martin, J., Ortego-Centeno, N., Callejas, J. L., Sanchez-Roman, J., D'Alfonso, S., Migliarese, S., Sebastiani, G. -D., Galeazzi, M., Witte, T., Lauwerys, B. R., Endreffy, E., Kovacs, L., Vasconcelos, C., da Silva, B. M., Scherbarth, H. R., Marino, P. C., Motta, E. L., Gamron, S., Drenkard, C., Menso, E., Allievi, A., Tate, G. A., Presas, J. L., Palatnik, S. A., Abdala, M., Bearzotti, M., Alvarellos, A., Caeiro, F., Bertoli, A., Paira, S., Roverano, S., Graf, C. E., Bertero, E., Caprarulo, C., Buchanan, G., Guilleron, C., Grimaudo, S., Manni, J., Catoggio, L. J., Soriano, E. R., Santos, C. D., Prigione, C., Ramos, F. A., Navarro, S. M., Berbotto, G. A., Jorfen, M., Romero, E. J., Garcia, M. A., Marcos, J. C., Marcos, A. I., Perandones, C. E., Eimon, A., Parque, S., Battagliotti, C. G., Acevedo, E., Cucho, M., de la Torre, I. G., Rios, M. C., Moctezuma, F., and Maradiaga Cecena, M.

Subjects
Leptin, Hispanic, Gene, Dna determination, immune system diseases, Lep gene, Genotype, 2.1 Biological and endogenous factors, Lupus Erythematosus, Systemic, Immunology and Allergy, Medicine, Aetiology, skin and connective tissue diseases, Priority journal, Leptin pathway, Gene polymorphism, Gene polymorphisms, Single Nucleotide, East asian, Case-Control Studie, Human, Lepr gene, Immunology, Case control study, Lupus, Single-nucleotide polymorphism, Major clinical study, Systemic lupus erythematosu, Autoimmune Disease, Polymorphism, Single Nucleotide, Article, European american, Systemic lupus erythematosus, Clinical Research, Genetic susceptibility, Genetics, Genetic predisposition, Humans, Genetic Predisposition to Disease, Genetic Testing, African american, Polymorphism, Genetic risk, Inflammation, Lupus Erythematosus, business.industry, Inflammatory and immune system, Pparg gene, Marta E. Alarcón-Riquelme for the BIOLUPUS and GENLES networks, Systemic, Case-control study, Single nucleotide polymorphism, Case-Control Studies, Multiple comparisons problem, Genetic association, Ghsr gene, business, Controlled study
Abstract

Leptin is abnormally elevated in the plasma of patients with systemic lupus erythematosus (SLE), where it is thought to promote and/or sustain pro-inflammatory responses. Whether this association could reflect an increased genetic susceptibility to develop SLE is not known, and studies of genetic associations with leptin-related polymorphisms in SLE patients have been so far inconclusive. Here we genotyped DNA samples from 15,706 SLE patients and healthy matched controls from four different ancestral groups, to correlate polymorphisms of genes of the leptin pathway to risk for SLE. It was found that although several SNPs showed weak associations, those associations did not remain significant after correction for multiple testing. These data do not support associations between defined leptin-related polymorphisms and increased susceptibility to develop SLE. © 2015 Elsevier Inc.

Published
2015
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7. First Latin American clinical practice guidelines for the treatment of systemic lupus erythematosus: Latin American Group for the Study of Lupus (GLADEL, Grupo Latino Americano de Estudio del Lupus)-Pan-American League of Associations of Rheumatology (PANLAR)

Author

Alejandro Alvarellos, María Victoria Collado, Eduardo Ferreira Borba, Cristina Drenkard, Luis M. Amezcua-Guerra, Fernanda Athayde Cardoso Linhares, Bernardo A. Pons-Estel, Eloisa Bonfa, Alejandra Babini, João Carlos Tavares Brenol, Mariana A. Pera, Ignacio García Valladares, Cristian Gerling, Claudio Galarza-Maldonado, Jorge Cieza, Rubén A. Montúfar Guardado, María Celeste Orozco, Guillermo A. Berbotto, Mercedes A. García, Paula Alba Moreyra, Clovis A. Silva, Graciela Espada, Simone Appenzeller, Valeria Arturi, Mary Carmen Amigo, Margarita Duarte, Federico Popoff, Marina Scolnik, Carolina Llanos, Maria Jezabel Haye Salinas, Nilzio Antônio da Silva, Antonio Iglesias Gamarra, María Isabel Acosta Colmán, Roger A. Levy, Ignacio García-De La Torre, C. Gobbi, Lilian Tereza Lavras Costallat, Alicia Aquino, Silvana Conti, Yurilis J Fuentes-Silva, Ricardo Machado Xavier, Manuel F. Ugarte-Gil, Luis J. Catoggio, Juan M. Criniti, Roberto Muñoz-Louis, Hilda Fragoso-Loyo, Odirlei André Monticielo, Ariel Izcovich, Oscar Neira, Carlos Pineda, Judith Sarano, Sebastián Herrera Uribe, Ricardo Robaina Sevrini, Hugo R. Scherbarth, José A. Gómez-Puerta, Luis H. Silveira, Andre R. O. Cavalcanti, Marlene Guibert-Toledano, Paula I. Burgos, Mario H. Cardiel, Gloria Vásquez, Ernesto Cairoli, Verónica Savio, Michelle Remião Ugolini-Lopes, Margarita Portela Hernández, Ãlvaro Danza, Andrea Vargas Peña, Luis Alonso González Naranjo, Soledad Retamozo, Eduardo M. Acevedo Vásquez, Loreto Massardo, José Fernando Molina, María E. Sattler, Viviana Gervasoni, Guillermo J. Pons-Estel, Diana Gómez-Martín, Edgard Torres dos Reis Neto, Yelitza C. González Bello, Rosana Quintana, Graciela V. Betancur, Ana Carolina Montandon De Oliveira E Silva, Claudia S. Mora-Trujillo, Ruth María Eraso Garnica, Violeta Rosario, Fernando Cavalcanti, Leonor A Barile-Fabris, Graciela S. Alarcón, Sergio Gordon, Luciana Parente Costa Seguro, Rocío V. Gamboa-Cárdenas, Gil Llerena Reyes, Rosa Chacón-Diaz, Emilia Inoue Sato, Enrique R. Soriano, and Verónica Saurit

Subjects
medicine.medical_specialty, Latin Americans, Immunology, Ethnic group, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, systemic lupus erythematosus, Antiphospholipid syndrome, Internal medicine, purl.org/becyt/ford/3.2 [https], Immunology and Allergy, Medicine, 030212 general & internal medicine, purl.org/pe-repo/ocde/ford#3.02.17 [https], 030203 arthritis & rheumatology, lupus nephritis, Systemic lupus erythematosus, treatment, business.industry, Abatacept, medicine.disease, Belimumab, purl.org/pe-repo/ocde/ford#3.01.03 [https], Family medicine, purl.org/becyt/ford/3 [https], Rituximab, business, medicine.drug
Abstract

Systemic lupus erythematosus (SLE), a complex and heterogeneous autoimmune disease, represents a significant challenge for both diagnosis and treatment. Patients with SLE in Latin America face special problems that should be considered when therapeutic guidelines are developed. The objective of the study is to develop clinical practice guidelines for Latin American patients with lupus. Two independent teams (rheumatologists with experience in lupus management and methodologists) had an initial meeting in Panama City, Panama, in April 2016. They selected a list of questions for the clinical problems most commonly seen in Latin American patients with SLE. These were addressed with the best available evidence and summarised in a standardised format following the Grading of Recommendations Assessment, Development and Evaluation approach. All preliminary findings were discussed in a second face-to-face meeting in Washington, DC, in November 2016. As a result, nine organ/system sections are presented with the main findings; an 'overarching' treatment approach was added. Special emphasis was made on regional implementation issues. Best pharmacologic options were examined for musculoskeletal, mucocutaneous, kidney, cardiac, pulmonary, neuropsychiatric, haematological manifestations and the antiphospholipid syndrome. The roles of main therapeutic options (ie, glucocorticoids, antimalarials, immunosuppressant agents, therapeutic plasma exchange, belimumab, rituximab, abatacept, low-dose aspirin and anticoagulants) were summarised in each section. In all cases, benefits and harms, certainty of the evidence, values and preferences, feasibility, acceptability and equity issues were considered to produce a recommendation with special focus on ethnic and socioeconomic aspects. Guidelines for Latin American patients with lupus have been developed and could be used in similar settings. Fil: Pons Estel, Bernardo A.. Centro Regional de Enfermedades Autoinmunes y Reumáticas; Argentina Fil: Bonfa, Eloisa. Universidade de Sao Paulo; Brasil Fil: Soriano, Enrique R.. Instituto Universitario Hospital Italiano de Buenos Aires. Rectorado.; Argentina Fil: Cardiel, Mario H.. Centro de Investigación Clínica de Morelia; México Fil: Izcovich, Ariel. Hospital Alemán; Argentina Fil: Popoff, Federico. Hospital Aleman; Argentina Fil: Criniti, Juan M.. Hospital Alemán; Argentina Fil: Vásquez, Gloria. Universidad de Antioquia; Colombia Fil: Massardo, Loreto. Universidad San Sebastián; Chile Fil: Duarte, Margarita. Hospital de Clínicas; Paraguay Fil: Barile Fabris, Leonor A.. Hospital Angeles del Pedregal; México Fil: García, Mercedes A.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina Fil: Amigo, Mary Carmen. Centro Médico Abc; México Fil: Espada, Graciela. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; Argentina Fil: Catoggio, Luis J.. Hospital Italiano. Instituto Universitario. Escuela de Medicina; Argentina Fil: Sato, Emilia Inoue. Universidade Federal de Sao Paulo; Brasil Fil: Levy, Roger A.. Universidade do Estado de Rio do Janeiro; Brasil Fil: Acevedo Vásquez, Eduardo M.. Universidad Nacional Mayor de San Marcos; Perú Fil: Chacón Díaz, Rosa. Policlínica Méndez Gimón; Venezuela Fil: Galarza Maldonado, Claudio M.. Corporación Médica Monte Sinaí; Ecuador Fil: Iglesias Gamarra, Antonio J.. Universidad Nacional de Colombia; Colombia Fil: Molina, José Fernando. Centro Integral de Reumatología; Colombia Fil: Neira, Oscar. Universidad de Chile; Chile Fil: Silva, Clóvis A.. Universidade de Sao Paulo; Brasil Fil: Vargas Peña, Andrea. Hospital Pasteur Montevideo; Uruguay Fil: Gómez Puerta, José A.. Hospital Clinic Barcelona; España Fil: Scolnik, Marina. Instituto Universitario Hospital Italiano de Buenos Aires. Rectorado.; Argentina Fil: Pons Estel, Guillermo J.. Centro Regional de Enfermedades Autoinmunes y Reumáticas; Argentina. Hospital Provincial de Rosario; Argentina Fil: Ugolini Lopes, Michelle R.. Universidade de Sao Paulo; Brasil Fil: Savio, Verónica. Instituto Universitario Hospital Italiano de Buenos Aires. Rectorado.; Argentina Fil: Drenkard, Cristina. University of Emory; Estados Unidos Fil: Alvarellos, Alejandro J.. Hospital Privado Universitario de Córdoba; Argentina Fil: Ugarte Gil, Manuel F.. Universidad Cientifica del Sur; Perú. Hospital Nacional Guillermo Almenara Irigoyen; Perú Fil: Babini, Alejandra. Instituto Universitario Hospital Italiano de Buenos Aires. Rectorado.; Argentina Fil: Cavalcanti, André. Universidade Federal de Pernambuco; Brasil Fil: Cardoso Linhares, Fernanda Athayde. Hospital Pasteur Montevideo; Uruguay Fil: Haye Salinas, Maria Jezabel. Hospital Privado Universitario de Córdoba; Argentina Fil: Fuentes Silva, Yurilis J.. Universidad de Oriente - Núcleo Bolívar; Venezuela Fil: Montandon De Oliveira E Silva, Ana Carolina. Universidade Federal de Goiás; Brasil Fil: Eraso Garnica, Ruth M.. Universidad de Antioquia; Colombia Fil: Herrera Uribe, Sebastián. Hospital General de Medellin Luz Castro de Gutiérrez; Colombia Fil: Gómez Martín, DIana. Instituto Nacional de la Nutrición Salvador Zubiran; México Fil: Robaina Sevrini, Ricardo. Universidad de la República; Uruguay Fil: Quintana, Rosana M.. Hospital Provincial de Rosario; Argentina. Centro Regional de Enfermedades Autoinmunes y Reumáticas; Argentina Fil: Gordon, Sergio. Hospital Interzonal General de Agudos Dr Oscar Alende. Unidad de Reumatología y Enfermedades Autoinmunes Sistémicas; Argentina Fil: Fragoso Loyo, Hilda. Instituto Nacional de la Nutrición Salvador Zubiran; México Fil: Rosario, Violeta. Hospital Docente Padre Billini; República Dominicana Fil: Saurit, Verónica. Hospital Privado Universitario de Córdoba; Argentina Fil: Appenzeller, Simone. Universidade Estadual de Campinas; Brasil Fil: Dos Reis Neto, Edgard Torres. Universidade Federal de Sao Paulo; Brasil Fil: Cieza, Jorge. Hospital Nacional Edgardo Rebagliati Martins; Perú Fil: González Naranjo, Luis A.. Universidad de Antioquia; Colombia Fil: González Bello, Yelitza C.. Ceibac; México Fil: Collado, María Victoria. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina Fil: Sarano, Judith. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina Fil: Retamozo, Maria Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Investigaciones en Ciencias de la Salud. Universidad Nacional de Córdoba. Instituto de Investigaciones en Ciencias de la Salud; Argentina Fil: Sattler, María E.. Provincia de Buenos Aires. Ministerio de Salud. Hospital Interzonal de Agudos "Eva Perón"; Argentina Fil: Gamboa Cárdenas, Rocio V.. Hospital Nacional Guillermo Almenara Irigoyen; Perú Fil: Cairoli, Ernesto. Universidad de la República; Uruguay Fil: Conti, Silvana M.. Hospital Provincial de Rosario; Argentina Fil: Amezcua Guerra, Luis M.. Instituto Nacional de Cardiologia Ignacio Chavez; México Fil: Silveira, Luis H.. Instituto Nacional de Cardiologia Ignacio Chavez; México Fil: Borba, Eduardo F.. Universidade de Sao Paulo; Brasil Fil: Pera, Mariana A.. Hospital Interzonal General de Agudos General San Martín; Argentina Fil: Alba Moreyra, Paula B.. Universidad Nacional de Córdoba. Facultad de Medicina; Argentina Fil: Arturi, Valeria. Hospital Interzonal General de Agudos General San Martín; Argentina Fil: Berbotto, Guillermo A.. Provincia de Buenos Aires. Ministerio de Salud. Hospital Interzonal de Agudos "Eva Perón"; Argentina Fil: Gerling, Cristian. Hospital Interzonal General de Agudos Dr Oscar Alende. Unidad de Reumatología y Enfermedades Autoinmunes Sistémicas; Argentina Fil: Gobbi, Carla Andrea. Universidad Nacional de Córdoba. Facultad de Medicina; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Gervasoni, Viviana L.. Hospital Provincial de Rosario; Argentina Fil: Scherbarth, Hugo R.. Hospital Interzonal General de Agudos Dr Oscar Alende. Unidad de Reumatología y Enfermedades Autoinmunes Sistémicas; Argentina Fil: Brenol, João C. Tavares. Hospital de Clinicas de Porto Alegre; Brasil Fil: Cavalcanti, Fernando. Universidade Federal de Pernambuco; Brasil Fil: Costallat, Lilian T. Lavras. Universidade Estadual de Campinas; Brasil Fil: Da Silva, Nilzio A.. Universidade Federal de Goiás; Brasil Fil: Monticielo, Odirlei A.. Hospital de Clinicas de Porto Alegre; Brasil Fil: Seguro, Luciana Parente Costa. Universidade de Sao Paulo; Brasil Fil: Xavier, Ricardo M.. Hospital de Clinicas de Porto Alegre; Brasil Fil: Llanos, Carolina. Universidad Católica de Chile; Chile Fil: Montúfar Guardado, Rubén A.. Instituto Salvadoreño de la Seguridad Social; El Salvador Fil: Garcia De La Torre, Ignacio. Hospital General de Occidente; México Fil: Pineda, Carlos. Instituto Nacional de Rehabilitación; México Fil: Portela Hernández, Margarita. Umae Hospital de Especialidades Centro Medico Nacional Siglo Xxi; México Fil: Danza, Alvaro. Hospital Pasteur Montevideo; Uruguay Fil: Guibert Toledano, Marlene. Medical-surgical Research Center; Cuba Fil: Reyes, Gil Llerena. Medical-surgical Research Center; Cuba Fil: Acosta Colman, Maria Isabel. Hospital de Clínicas; Paraguay Fil: Aquino, Alicia M.. Hospital de Clínicas; Paraguay Fil: Mora Trujillo, Claudia S.. Hospital Nacional Edgardo Rebagliati Martins; Perú Fil: Muñoz Louis, Roberto. Hospital Docente Padre Billini; República Dominicana Fil: García Valladares, Ignacio. Centro de Estudios de Investigación Básica y Clínica; México Fil: Orozco, María Celeste. Instituto de Rehabilitación Psicofísica; Argentina Fil: Burgos, Paula I.. Pontificia Universidad Católica de Chile; Chile Fil: Betancur, Graciela V.. Instituto de Rehabilitación Psicofísica; Argentina Fil: Alarcón, Graciela S.. Universidad Peruana Cayetano Heredia; Perú. University of Alabama at Birmingahm; Estados Unidos

Published
2018

8. Effects of Amerindian Genetic Ancestry on Clinical Variables and Therapy in Patients with Rheumatoid Arthritis

Author

Marta E. Alarcón-Riquelme, Alejandra Babini, Ingrid Strusberg, Marco A. Maradiaga-Ceceña, César Graf, Osvaldo D. Messina, Teresa Tusié-Luna, José Luis C. Moreno, Sergio Paira, Elena Sánchez, Mario Goñi, Jorge A. Esquivel-Valerio, Eduardo Acevedo-Vásquez, Ignacio García-De La Torre, Luis J. Catoggio, Genar Study, Guillermo A. Berbotto, Gustavo Citera, Bernardo A. Pons-Estel, Conrado García García, Alberto Spindler, Alejandro Alvarellos, Jorge L. Musuruana, Francisco J. Ballesteros, Antonio Catalán Pellet, Sergio Toloza, G Nasswetter, Ana Quinteros, Guillermo Tate, Alicia Eimon, Juan Carlos Marcos, Mario H. Cardiel, Hugo R. Scherbarth, Mónica P. Sacnun, and Pedro C. Miranda

Subjects
0301 basic medicine, Male, Latin Americans, Arthritis, Rheumatoid, 0302 clinical medicine, Genotype, Peru, Immunology and Allergy, AMERINDIAN, Chile, Traditional medicine, Anti-Inflammatory Agents, Non-Steroidal, Age Factors, Middle Aged, ADMIXTURE, Rheumatoid arthritis, Antirheumatic Agents, Female, SMOKING, Leflunomide, medicine.drug, Adult, medicine.medical_specialty, Genetic genealogy, Immunology, Argentina, LATIN AMERICAN, 03 medical and health sciences, Sex Factors, Rheumatology, Sulfasalazine, Rheumatoid Factor, Internal medicine, medicine, Rheumatoid factor, Humans, In patient, Allele, RHEUMATOID ARTHRITIS, Mexico, Alleles, Aged, 030203 arthritis & rheumatology, business.industry, Indians, South American, Isoxazoles, medicine.disease, Radiography, 030104 developmental biology, Methotrexate, Indians, North American, business
Abstract

Objective.To define whether Amerindian genetic ancestry correlates with clinical and therapeutic variables in admixed individuals with rheumatoid arthritis (RA) from Latin America.Methods.Patients with RA (n = 1347) and healthy controls (n = 1012) from Argentina, Mexico, Chile, and Peru were included. Samples were genotyped for the Immunochip v1 using the Illumina platform. Clinical data were obtained through interviews or the clinical history.Results.Percentage of Amerindian ancestry was comparable between cases and controls. Morning stiffness (p < 0.0001, OR 0.05), rheumatoid factor (RF; p < 0.0001, OR 0.22), radiographic changes (p < 0.0001, OR 0.05), and higher number of criteria were associated with lower Amerindian ancestry after Bonferroni correction. Higher Amerindian ancestry correlated only with weight loss (pBonferroni < 0.0001, OR 2.85). Increased Amerindian ancestry correlated with higher doses of azathioprine (p < 0.0001, OR 163.6) and sulfasalazine (p < 0.0001, OR 48.6), and inversely with methotrexate (p = 0.001, OR 0.35), leflunomide (p = 0.001, OR 0.16), and nonsteroidal antiinflammatory drugs (pBonferroni = 0.001, OR 0.37). Only the presence of RF and weight loss were modified after confounders adjustment.Conclusion.Amerindian ancestry protects against most major clinical criteria of RA, but regarding the association of RF with increased European ancestry, age, sex, and smoking are modifiers. Ancestry also correlates with the therapeutic profiles.

Published
2017

9. Rheumatoid Arthritis in Latin Americans Enriched for Amerindian Ancestry Is Associated With Loci in Chromosomes 1, 12, and 13, and the HLA Class II Region

Author

Mario Goñi, Jorge A. Esquivel-Valerio, Manuel Martínez-Bueno, Teresa Tusié-Luna, Alejandro Alvarellos, David López Herráez, Guillermo A. Berbotto, Alejandra Babini, Juan Carlos Marcos, Conrado García García, Marta E. Alarcón-Riquelme, Laura Riba, Gustavo Citera, Antonio Catalán Pellet, Hugo R. Scherbarth, Alberto Spindler, Mónica P. Sacnun, Jorge L. Musuruana, Marco A. Maradiaga-Ceceña, José Luis C. Moreno, Alicia Eimon, César Graf, Eduardo Acevedo-Vásquez, Sergio Toloza, G Nasswetter, Mario H. Cardiel, Ingrid Strusberg, Francisco J. Ballesteros, Guillermo Tate, Sergio Paira, Bernardo A. Pons-Estel, Pedro Miranda, Osvaldo D. Messina, Ana Quinteros, Ignacio García-De La Torre, and Luis J. Catoggio

Subjects
Genetics, education.field_of_study, Genetic genealogy, Immunology, Population, Locus (genetics), Human leukocyte antigen, Biology, Rheumatology, Immunology and Allergy, Pharmacology (medical), education, Genotyping, Chromosome 12, Genetic association, Chromosome 13
Abstract

Objective To identify susceptibility loci for rheumatoid arthritis (RA) in Latin American individuals with admixed European and Amerindian genetic ancestry. Methods Genotyping was performed in 1,475 patients with RA and 1,213 control subjects, using a customized BeadArray containing 196,524 markers covering loci previously associated with various autoimmune diseases. Principal components analysis (EigenSoft package) and Structure software were used to identify outliers and define the population substructure. REAP software was used to define cryptic relatedness and duplicates, and genetic association analyses were conducted using Plink statistical software. Results A strong genetic association between RA and the major histocompatibility complex region was observed, localized within BTNL2/DRA–DQB1– DQA2 (P = 7.6 × 10−10), with 3 independent effects. We identified an association in the PLCH2-HES5-TNFRSF14-MMEL1 region of chromosome 1 (P = 9.77 × 10−6), which was previously reported in Europeans, Asians, and Native Canadians. We identified one novel putative association in ENOX1 on chromosome 13 (P = 3.24 × 10−7). Previously reported associations were observed in the current study, including PTPN22, SPRED2, STAT4, IRF5, CCL21, and IL2RA, although the significance was relatively moderate. Adjustment for Amerindian ancestry improved the association of a novel locus in chromosome 12 at C12orf30 (NAA25) (P = 3.9 × 10−6). Associations with the HLA region, SPRED2, and PTPN22 improved in individuals positive for anti–cyclic citrullinated peptide antibodies. Conclusion Our data define, for the first time, the contribution of Amerindian ancestry to the genetic architecture of RA in an admixed Latin American population by confirming the role of the HLA region and supporting the association with a locus in chromosome 1. In addition, we provide data for novel putative loci in chromosomes 12 and 13.

Published
2013
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10. Lupuzor/P140 peptide in patients with systemic lupus erythematosus: a randomised, double-blind, placebo-controlled phase IIb clinical trial

Author

Robert H. Zimmer, Sylviane Muller, Oscar Luis Rillo, Juan J. Gomez-Reino, Hugo R Scherbarth, Biotechnologie et signalisation cellulaire (BSC), and Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Institut de recherche de l'Ecole de biotechnologie de Strasbourg (IREBS)

Subjects
Adult, Male, medicine.medical_specialty, [SDV.BIO]Life Sciences [q-bio]/Biotechnology, Immunology, Population, Placebo, Systemic Lupus Erythematosus, General Biochemistry, Genetics and Molecular Biology, Double blind, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Double-Blind Method, Rheumatology, Internal medicine, medicine, Humans, Immunologic Factors, Lupus Erythematosus, Systemic, Immunology and Allergy, In patient, skin and connective tissue diseases, education, 030304 developmental biology, 030203 arthritis & rheumatology, 0303 health sciences, education.field_of_study, Systemic lupus erythematosus, T Cells, business.industry, Clinical and Epidemiological Research, Middle Aged, medicine.disease, Interim analysis, Peptide Fragments, 3. Good health, Treatment, Clinical trial, Treatment Outcome, Physical therapy, Female, business
Abstract

Objectives To evaluate treatment with the peptide-based agent, Lupuzor, in a double-blind, randomised, placebo-controlled study of patients with systemic lupus erythematosus. Methods Patients who met ≥4 of the American College of Rheumatology criteria, had a score of ≥6 on the Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2K) and did not have an A score on the British Isles Lupus Assessment Group (BILAG)-2004 scale were eligible. 149 intention-to-treat (ITT) patients were randomly assigned to receive Lupuzor (200 μg) subcutaneously every 4 weeks (n=49; group 1) or every 2 weeks (n=51; group 2) or placebo (n=49; group 3) in addition to standard of care (SOC). A target population (136 ITT patients) consisting of patients having a clinical SLEDAI score ≥6 at week 0 was considered. The clinical SLEDAI score is the SLEDAI-2K score obtained by omitting low complement and increased DNA binding components. Results In the ITT overall population, 53.1% in group 1 (p=0.048), 45.1% in group 2 (p=0.18) and 36.2% in the placebo group achieved an SLE Responder Index (SRI) response at week 12. In the target population, the results were more impressive: 61.9% in group 1 (p=0.016), 48.0% in group 2 (p=0.18) and 38.6% in the placebo group achieved an SRI response at week 12. An interim analysis including 114 patients from the target population demonstrated an even better efficacy (according to SLEDAI score) in group 1 compared with placebo (67.6% vs 41.5% (p

Published
2012
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11. Antimalarial treatment may have a time-dependent effect on lupus survival: Data from a multinational Latin American inception cohort

Author

Samuel Katsuyuki Shinjo, Oscar Neira, Eloisa Bonfa, Luis H. Silveira, Leonor A Barile-Fabris, Loreto Massardo, Francisco Caeiro, Eduardo Ferreira Borba, Daniel Wojdyla, Guillermo A. Berbotto, Bernardo A. Pons-Estel, Hugo R. Scherbarth, Luis Alberto Ramírez, Eduardo M. Acevedo-Vázquez, Graciela S. Alarcón, Rosa Chacón-Diaz, Emilia Inoue Sato, Ignacio García-De La Torre, João Carlos Tavares Brenol, and Sandra Buliubasich

Subjects
Adult, Male, medicine.medical_specialty, Time Factors, Adolescent, Antimaláricos, Immunology, Cohort Studies, Antimalarials, Rheumatology, Cause of Death, Internal medicine, Humans, Lupus Erythematosus, Systemic, Immunology and Allergy, Medicine, Pharmacology (medical), Child, Lupus Vulgar, Aged, Cause of death, Aged, 80 and over, Lupus Vulgaris, Systemic lupus erythematosus, Lupus erythematosus, business.industry, Proportional hazards model, Lupus Eritematoso Sistémico, Mortality rate, Hazard ratio, Middle Aged, medicine.disease, Surgery, Latin America, Socioeconomic Factors, Cohort, Female, business, Cohort study
Abstract

Objective: To evaluate the beneficial effect of antimalarial treatment on lupus survival in a large, multiethnic, international longitudinal inception cohort. Methods: Socioeconomic and demographic characteristics, clinical manifestations, classification criteria, laboratory findings, and treatment variables were examined in patients with systemic lupus erythematosus (SLE) from the Grupo Latino Americano de Estudio del Lupus Eritematoso (GLADEL) cohort. The diagnosis of SLE, according to the American College of Rheumatology criteria, was assessed within 2 years of cohort entry. Cause of death was classified as active disease, infection, cardiovascular complications, thrombosis, malignancy, or other cause. Patients were subdivided by antimalarial use, grouped according to those who had received antimalarial drugs for at least 6 consecutive months (user) and those who had received antimalarial drugs for 2 years. Mortality rates among users by duration of antimalarial treatment (per 1,000 person-months of followup) were 3.85 (95% confidence interval [95% CI] 1.41–8.37), 2.7 (95% CI 1.41–4.76), and 0.54 (95% CI 0.37–0.77), respectively, while for nonusers, the mortality rate was 3.07 (95% CI 2.18–4.20) (P for trend < 0.001). After adjustment for potential confounders in a Cox regression model, antimalarial use was associated with a 38% reduction in the mortality rate (hazard ratio 0.62, 95% CI 0.39–0.99). Conclusion: Antimalarial drugs were shown to have a protective effect, possibly in a time-dependent manner, on SLE survival. These results suggest that the use of antimalarial treatment should be recommended for patients with lupus. COL0000962

Published
2010
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12. Validation of the Spanish, Portuguese and French versions of the Lupus Damage Index questionnaire: data from North and South America, Spain and Portugal

Author

Ann E. Clarke, Antonio Iglesias-Gamarra, Sasha Bernatsky, Maria José Santos, I. Navarro, Ricardo Silvariño, Silvana Gentiletti, María H Esteva-Spinetti, M. Portela, Guillermo A. Berbotto, Luis M. Vilá, Luis Alberto Ramírez, Jigna Liu, J. Romero-Diaz, Samuel Katsuyuki Shinjo, Paula I. Burgos, Ana Catarina Duarte, M A García, Jorge Sánchez-Guerrero, E. Velozo, Graciela S. Alarcón, Michael H. Weisman, A. W S Souza, José Fernando Molina, Juan Carlos Marcos, Verónica Saurit, Eduardo Acevedo, Paul R. Fortin, I. G. De La Torre, Eduardo Ferreira Borba, Frederick Wolfe, Elizabeth W. Karlson, Hugo R. Scherbarth, Oscar Neira, Sergio Duran-Barragan, Claudia Diniz Lopes Marques, M I Segami, L. Onetti, Jaime Calvo-Alén, Jorge Manni, Karen H. Costenbader, B A Pons-Estel, Emilio B. Gonzalez, Luis J. Catoggio, Eloisa Bonfa, and Jose Maria Roldan

Subjects
Adult, medicine.medical_specialty, Pediatrics, Index (economics), MEDLINE, Severity of Illness Index, Article, Rheumatology, Surveys and Questionnaires, Severity of illness, medicine, Humans, Lupus Erythematosus, Systemic, Language, Systemic lupus erythematosus, Lupus erythematosus, Portugal, Systemic lupus, business.industry, Reproducibility of Results, South America, medicine.disease, Health Surveys, language.human_language, Questionnaire data, Spain, Family medicine, North America, language, Female, Portuguese, business
Abstract

We have previously developed and validated a self-administered questionnaire, modelled after the Systemic Lupus International Collaborating Clinics Damage Index (SDI), the Lupus Damage Index Questionnaire (LDIQ), which may allow the ascertainment of this construct in systemic lupus erythematosus (SLE) patients followed in the community and thus expand observations made about damage. We have now translated, back-translated and adapted the LDIQ to Spanish, Portuguese and French and applied it to patients followed at academic and non-academic centres in North and South America, Portugal and Spain while their physicians scored the SDI. A total of 887 patients (659 Spanish-speaking, 140 Portuguese-speaking and 80 French-speaking patients) and 40 physicians participated. Overall, patients scored all LDIQ versions higher than their physicians (total score and all domains). Infrequent manifestations had less optimal clinimetric properties but overall agreement was more than 95% for the majority of items. Higher correlations were observed among the Spanish-speaking patients than the Portuguese-speaking and French-speaking patients; further adjustments may be needed before the Portuguese and French versions of the LDIQ are applied in community-based studies. The relationship between the LDIQ and other outcome parameters is currently being investigated in a different patient sample.

Published
2009
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13. No evidence of association between genetic variants of the PDCD1 ligands and SLE

Author

Susana Gamron, Marta E. Alarcón-Riquelme, Carlos E. Perandones, Iva Gunnarsson, Guadalupe Lima, Sergio Paira, Anna-Karin Abelson, Sergio A Palatnik, Kristjan Steinsson, Carlos Guillerón, Guillermo A. Berbotto, Bernardo A. Pons-Estel, Cesar G Battagliotti, Gunnar Sturfelt, Alejandro Allievi, Lennart Truedsson, Mercedes A. García, Cecilia Johansson, Antonio Alvarellos, César Graf, Helga Kristjansdottir, Andreas Jönsen, Elisabet Svenungsson, Luis J. Catoggio, Sergey V. Kozyrev, Carlos Prigione, and Hugo R. Scherbarth

Subjects
Male, Linkage disequilibrium, Programmed Cell Death 1 Receptor, Immunology, Genome Scan, Single-nucleotide polymorphism, Biology, Ligands, medicine.disease_cause, Polymorphism, Single Nucleotide, B7-H1 Antigen, Linkage Disequilibrium, Autoimmunity, Antigens, CD, PD-L1, Genetics, medicine, Humans, Lupus Erythematosus, Systemic, Genetic Predisposition to Disease, skin and connective tissue diseases, Gene, Genetics (clinical), Genetic association, Chromosome, Programmed Cell Death 1 Ligand 2 Protein, biology.protein, Intercellular Signaling Peptides and Proteins, Female, Apoptosis Regulatory Proteins
Abstract

PDCD1, an immunoreceptor involved in peripheral tolerance has previously been shown to be genetically associated with systemic lupus erythematosus (SLE). PDCD1 has two ligands whose genes are located in close proximity on chromosome 9p24. Our attention was drawn to these ligands after finding suggestive linkage to a marker (gata62f03, Z=2.27) located close to their genes in a genome scan of Icelandic families multiplex for SLE. Here, we analyse Swedish trios (N=149) for 23 single nucleotide polymorphisms (SNPs) within the genes of the PDCD1 ligands. Initially, indication of association to eight SNPs was observed, and these SNPs were therefore also analysed in Mexican trios (N=90), as well as independent sets of patients and controls from Sweden (152 patients, 448 controls) and Argentina (288 patients, 288 controls). We do not find support for genetic association to SLE. This is the first genetic study of SLE and the PDCD1 ligands and the lack of association in several cohorts implies that these genes are not major risk factors for SLE.

Published
2006
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14. Analysis ofIRF5 gene functional polymorphisms in rheumatoid arthritis

Author

María Francisca González-Escribano, M.V. Prasad Linga Reddy, Javier Martin, Sergio Paira, Miguel A. González-Gay, Marta E. Alarcón-Riquelme, Dora Pascual-Salcedo, Alejandro Balsa, Alicia Eimon, Blanca Rueda, Ingemar F Petersson, Bernardo A. Pons-Estel, and Hugo R. Scherbarth

Subjects
Male, Immunology, Argentina, Arthritis, Polymorphism, Single Nucleotide, Arthritis, Rheumatoid, Cohort Studies, Exon, Gene Frequency, Rheumatology, Genetic predisposition, Humans, Immunology and Allergy, Medicine, Genetic Predisposition to Disease, Pharmacology (medical), Registries, Allele, Allele frequency, Sweden, business.industry, Haplotype, medicine.disease, Genotype frequency, Haplotypes, Spain, Case-Control Studies, Interferon Regulatory Factors, Female, business, IRF5
Abstract

Objective Recent findings suggest that interferon regulatory factor 5 (IRF-5) may play a crucial role in several cellular processes, including the transcription of genes for inflammatory cytokines. Two genetic variants of the IRF5 gene (rs2004640 in exon 1 and rs2280714 in the 3′-untranslated region) have been shown to exert functional modifications affecting IRF5 messenger RNA splicing and expression, and have been associated with genetic predisposition to systemic lupus erythematosus (SLE). The aim of this study was to analyze the possible contribution of the IRF5 gene to the predisposition to rheumatoid arthritis (RA). Methods Three case–control cohorts from Spain (724 RA patients and 542 healthy controls), Sweden (281 RA patients 474 healthy controls), and Argentina (284 RA patients and 286 healthy controls) were independently analyzed. Genotyping for IRF5 rs2004640 and rs2280714 was performed using a TaqMan 5′ allele-discrimination assay. Results In the 3 cohorts studied, no statistically significant differences in allele or genotype frequencies of the rs2004640 and rs2280714 IRF5 polymorphisms were observed between RA patients and controls. Accordingly, haplotype analysis revealed that none of the IRF5 haplotypes was associated with genetic predisposition to RA. Conclusion Our results suggest that the IRF5 functional polymorphisms analyzed do not seem to be implicated in genetic susceptibility to RA.

Published
2006
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15. Study of functional variants of the BANK1 gene in rheumatoid arthritis

Author

Ingemar F Petersson, Dora Pascual-Salcedo, Marta E. Alarcón-Riquelme, Bernardo A. Pons-Estel, Gisela Orozco, Benjamín Fernández-Gutiérrez, Javier Martin, Sergio Paira, Miguel A. Gonzalez-Gay, Hugo R. Scherbarth, Alicia Eimon, Alejandro Balsa, Anna Karin Abelson, and Antonio García

Subjects
Male, medicine.medical_specialty, Genotype, Immunology, Argentina, Single-nucleotide polymorphism, Gastroenterology, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Arthritis, Rheumatoid, Cohort Studies, Rheumatology, Risk Factors, Statistical significance, Internal medicine, medicine, Odds Ratio, Immunology and Allergy, Humans, Pharmacology (medical), Genetic Predisposition to Disease, Allele, Mexico, Alleles, Adaptor Proteins, Signal Transducing, Sweden, business.industry, Haplotype, Membrane Proteins, Odds ratio, medicine.disease, Confidence interval, Spain, Rheumatoid arthritis, Female, business
Abstract

Objective. To investigate 1 functional (rs17266594) and 2 potentially functional (rs10516487 and rs3733197) BANK1 variants, which were previously identified as systemic lupus erythematosus (SLE) susceptibility markers, to test whether they are associated with rheumatoid arthritis (RA). Methods. Four different cohorts were included in the study: 1,080 RA patients and 1,368 healthy controls from Spain, 278 RA patients and 568 healthy controls from Sweden, 288 RA patients and 287 healthy controls from Argentina, and 288 RA patients and 288 healthy controls from Mexico. Samples were genotyped for BANK] single-nucleotide polymorphisms (SNPs) using a TaqMan 5'-allele discrimination assay. Statistical analysis comparing allele and genotype distributions was performed with the chi-square test. Results. We did not find a significant association between RA and the rs10516487 and rs17266594 BANK1 polymorphisms. However, there was an increase in the major alleles among RA patients. Similarly, for rs3733197, there was an increase in the major allele among patients in every cohort. Nevertheless, this skewing reached statistical significance in the Spanish (P = 0.01, odds ratio [OR] 1.17 [95% confidence interval (95% CI) 1.03-1.32]) and Argentinean (P = 0.04, OR 1.31. [95% CI 1.00-1.72]) populations. We found a significant association of rs10516487 (P = 0.005, OR 1.15 [95% CI 1.04-1.28]) and rs3733197 (P = 0.0009, OR.1.17 [95% CI 1.07-1.29]) with RA in the pooled analysis. In a 3-SNP haplotype analysis, we found that the major TGG haplotype was significantly associated with RA (P = 0.005, OR 1.14 [95% CI 1.04-1.25]). In addition, we found a common CAA haplotype that was protective against RA (P = 0.0004, OR 0.82 [95% CI 0.74-0.921). Conclusion. These results suggest that BANK1 SNPs and haplotypes may contribute to RA susceptibility with a low risk.

Published
2009

16. Childhood systemic lupus erythematosus in Latin America. The GLADEL experience in 230 children

Author

L A, Ramírez Gómez, O, Uribe Uribe, O, Osio Uribe, H, Grisales Romero, M H, Cardiel, D, Wojdyla, B A, Pons-Estel, Luis J, Catoggio, Enrique R, Soriano, Patricia M, Imamura, Jorge A, Manni, Sebastián, Grimaudo, Judith, Sarano, José A, Maldonado-Cocco, Maria S, Arriola, Graciela, Gómez, Mercedes A, García, Ana Inés, Marcos, Juan Carlos, Marcos, Hugo R, Scherbarth, Pilar C, Marino, Estela L, Motta, Cristina, Drenkard, Susana, Gamron, Sandra, Buliubasich, Carlos M, Onetti, Francisco, Caeiro, Alejandro, Alvarellos, Verónica, Saurit, Silvana, Gentiletti, Norberto, Quagliatto, Alberto A, Gentiletti, Daniel, Machado, Marcelo, Abdala, Simón, Palatnik, Guillermo A, Berbotto, Carlos A, Battagliotti, Emilia, Sato, Elaine M C, Sella, AlexandreW S, Souza, Lilian T Lavras, Costallat, Manoel Barros, Bertolo, Ibsen Bellini, Coimbra, Eduardo Ferreira, Borba Neto, Eloisa, Bonfá, João Carlos, Tavares, Brenol, Ricardo, Xavier, Tamara, Mucenic, Fernando de Souza, Cavalcanti, Angela Luzia Branco, Duarte, Cláudia Diniz Lopes, Marques, Nilzio Antonio, Da Silva, Ana Carolina, de O e Silva, Tatiana Ferracine, Pacheco, José Fernando, Molina-Restrepo, Javier, Molina-López, Antonio, Iglesias-Gamarra, Antonio, Iglesias-Rodríguez, Eduardo, Egea-Bermejo, Renato A, Guzmán-Moreno, José F, Restrepo-Suárez, Marlene, Guibert-Toledano, Gil Alberto, Reyes-Llerena, Loreto, Massardo, Néstor, Gareca, Sergio, Jacobelli, Oscar J, Neira, Leonardo R, Guzmán, Abraham, Garcia-Kutzbach, Claudia, Castellanos, Erwin, Cajas, Virginia, Pascual-Ramos, Leonor A, Barile-Fabris, Juan Manuel, Miranda-Limón, Mary-Carmen, Amigo, Luis H, Silveira, Ignacio García, De La Torre, Gerardo, Orozco-Barocio, Magali L, Estrada-Contreras, Maria Josefina Sauza, del Pozo, Laura E, Aranda Baca, Adelfia Urenda, Quezada, Guillermo F, Huerta-Yáñez, Eduardo M, Acevedo-Vásquez, José Luis, Alfaro-Lozano, Jorge M, Cucho-Venegas, Maria Inés, Segami, Cecilia P, Chung, Magaly, Alva-Linares, Isaac, Abadi, Rosa, Chacón-Díaz, Soham, Al Snih Al Snih, Maria H, Esteva-Spinetti, and Jorge, Vivas

Subjects
Hemolytic anemia, Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Rheumatology, Chi-square test, medicine, Humans, Lupus Erythematosus, Systemic, Age of Onset, skin and connective tissue diseases, Child, Lupus erythematosus, Systemic lupus erythematosus, business.industry, medicine.disease, Exact test, Latin America, Cohort, Female, medicine.symptom, Age of onset, Malar rash, business
Abstract

To evaluate disease characteristics of childhood onset SLE in Latin America and to compare this information with an adult population in the same cohort of GLADEL. A protocol was designed as a multicenter, multinational, inception cohort of lupus patients to evaluate demographic, clinical, laboratory and serological variables, as well as classification criteria, disease activity, organ damage and mortality. Descriptive statistics, chi square, Fisher's exact test, Student's t test and multiple logistic regression were used to compare childhood and adult onset SLE. 230 patients were < 18 years and 884 were adult SLE patients. Malar rash, fever, oral ulcers, thrombocytopenia and hemolytic anemia and some neurologic manifestations were more prevalent in children (p < 0.05). On the other hand, myalgias, Sjögren’s syndrome and cranial nerve involvement were more frequently seen in adults (p < 0.05). Afro-Latin-American children had a higher prevalence of fever, thrombocytopenia and hemolytic anemia. White and mestizo children had a higher prevalence of malar rash. Mestizo children had a higher prevalence of cerebrovascular disease and cranial nerve involvement. Children met SLE ACR criteria earlier with higher mean values than adults (p: 0.001). They also had higher disease activity scores (p: 0.01), whereas adults had greater disease damage (p: 0.02). In Latin America, childhood onset SLE seems to be a more severe disease than adults. Some differences can be detected among ethnic groups.

Published
2008

17. Amerindian ancestry in Argentina is associated with increased risk for systemic lupus erythematosus

Author

Gabriel A. Silva, Marta E. Alarcón-Riquelme, César Graf, Chao Tian, Sergio Paira, Michael Ransom, Alberto Allievi, Carlos E. Perandones, Susana Gamron, Lihong Qi, Guillermo A. Berbotto, Hadi Abderrahim, Hugo R. Scherbarth, Simon A. Palatnik, Cristina Prigione, Cristina G. Battagliotti, Luis J. Catoggio, Mercedes A. García, V. Saurit, Michael F. Seldin, John W. Belmont, Lennart Truedsson, B. A. Pons-Estel, and Carolina Guillerón

Subjects
Genotype, Immunology, Population, Argentina, Biology, Polymorphism, Single Nucleotide, immune system diseases, Polymorphism (computer science), Risk Factors, Genetics, medicine, Odds Ratio, Humans, Lupus Erythematosus, Systemic, Genetic Predisposition to Disease, skin and connective tissue diseases, education, Genetics (clinical), education.field_of_study, Lupus erythematosus, Geography, Indians, South American, Haplotype, Case-control study, Computational Biology, Bayes Theorem, Odds ratio, medicine.disease, Genetics, Population, Logistic Models, Haplotypes, Case-Control Studies, Age of onset, Algorithms
Abstract

Previous studies have demonstrated that in admixed populations, West African ancestry is associated with an increased prevalence of systemic lupus erythematosus (SLE). In the current study, the effect of Amerindian ancestry in SLE was examined in an admixed population in Argentina. The Argentine population is predominantly European with approximately 20% Amerindian admixture, and a very small (

Published
2008

18. Argentine population genetic structure: large variance in Amerindian contribution

Author

Guillermo A. Berbotto, Gabriel A. Silva, Michael F. Seldin, Carlos E. Perandones, Susana Gamron, Russell Shigeta, John W. Belmont, Rick A. Kittles, Cesar Caprarulo, Bernardo A. Pons-Estel, Alejandro Alvarellos, Luis J. Catoggio, Sergio Paira, Cristina Prigione, Alberto Allevi, Marta E. Alarcón-Riquelme, Mercedes A. García, Simon A. Palatnik, Chao Tian, Hugo R. Scherbarth, and Carolina Guillerón

Subjects
Genetic Markers, Population, Genetic admixture, Black People, Ancestry-informative marker, Biology, Population stratification, White People, Article, Asian People, Gene Frequency, Genetic variation, Mexican Americans, Humans, education, Allele frequency, education.field_of_study, Indians, South American, Genetic Variation, Bayes Theorem, Genetics, Population, Genetic marker, Anthropology, Genetic structure, Anatomy, Demography
Abstract

Argentine population genetic structure was examined using a set of 78 ancestry informative markers (AIMs) to assess the contributions of European, Amerindian, and African ancestry in 94 individuals members of this population. Using the Bayesian clustering algorithm STRUCTURE, the mean European contribution was 78%, the Amerindian contribution was 19.4%, and the African contribution was 2.5%. Similar results were found using weighted least mean square method: European, 80.2%; Amerindian, 18.1%; and African, 1.7%. Consistent with previous studies the current results showed very few individuals (four of 94) with greater than 10% African admixture. Notably, when individual admixture was examined, the Amerindian and European admixture showed a very large variance and individual Amerindian contribution ranged from 1.5 to 84.5% in the 94 individual Argentine subjects. These results indicate that admixture must be considered when clinical epidemiology or case control genetic analyses are studied in this population. Moreover, the current study provides a set of informative SNPs that can be used to ascertain or control for this potentially hidden stratification. In addition, the large variance in admixture proportions in individual Argentine subjects shown by this study suggests that this population is appropriate for future admixture mapping studies.

Published
2006

19. Study of the role of a functional polymorphism of MHC2TA in rheumatoid arthritis in three ethnically different populations

Author

Gema Robledo, Miguel A. González-Gay, Marta E. Alarcón-Riquelme, D. Pascual-Salcedo, Alicia García, Alicia Eimon, Alejandro Balsa, B. A. Pons-Estel, Javier Martín, Gisela Orozco, I. F. Petersson, M. V. P. Linga Reddy, S. Paira, and Hugo R. Scherbarth

Subjects
musculoskeletal diseases, Polymorphism, Genetic, business.industry, Arthritis, Nuclear Proteins, medicine.disease, Arthritis, Rheumatoid, Rheumatology, Rheumatoid arthritis, Immunology, medicine, Ethnicity, Trans-Activators, Humans, Pharmacology (medical), Genetic Predisposition to Disease, skin and connective tissue diseases, business, Functional polymorphism
Abstract

Study of the role of a functional polymorphism of MHC2TA in rheumatoid arthritis in three ethnically different populations.

Published
2006

20. Analysis of IRF5 gene functional polymorphisms in rheumatoid arthritis.

Author

Blanca Rueda, M. V. Prasad Linga Reddy, Miguel A. González‐Gay, Alejandro Balsa, Dora Pascual‐Salcedo, Ingemar F. Petersson, Alicia Eimon, Sergio Paira, Hugo R. Scherbarth, Bernardo A. Pons‐Estel, Maria F. González‐Escribano, Marta E. Alarcón‐Riquelme, and Javier Martín

Subjects
INTERFERONS, GENES, CYTOKINES, MESSENGER RNA, SYSTEMIC lupus erythematosus, RHEUMATOID arthritis
Abstract

Recent findings suggest that interferon regulatory factor 5 (IRF‐5) may play a crucial role in several cellular processes, including the transcription of genes for inflammatory cytokines. Two genetic variants of the IRF5 gene (rs2004640 in exon 1 and rs2280714 in the 3′‐untranslated region) have been shown to exert functional modifications affecting IRF5 messenger RNA splicing and expression, and have been associated with genetic predisposition to systemic lupus erythematosus (SLE). The aim of this study was to analyze the possible contribution of the IRF5 gene to the predisposition to rheumatoid arthritis (RA).Three case–control cohorts from Spain (724 RA patients and 542 healthy controls), Sweden (281 RA patients 474 healthy controls), and Argentina (284 RA patients and 286 healthy controls) were independently analyzed. Genotyping for IRF5 rs2004640 and rs2280714 was performed using a TaqMan 5′ allele‐discrimination assay.In the 3 cohorts studied, no statistically significant differences in allele or genotype frequencies of the rs2004640 and rs2280714 IRF5 polymorphisms were observed between RA patients and controls. Accordingly, haplotype analysis revealed that none of the IRF5 haplotypes was associated with genetic predisposition to RA.Our results suggest that the IRF5 functional polymorphisms analyzed do not seem to be implicated in genetic susceptibility to RA. [ABSTRACT FROM AUTHOR]

Published
2006
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