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2. No evidence of association between genetic variants of the PDCD1 ligands and SLE

Author

Abelson, A K, Johansson, C M, Kozyrev, S V, Kristjansdottir, H, Gunnarsson, I, Svenungsson, E, Jönsen, A, Lima, G, Scherbarth, H R, Gamron, S, Allievi, A, Palatnik, S A, Alvarellos, A, Paira, S, Graf, C, Guillerón, C, Catoggio, L J, Prigione, C, Battagliotti, C G, Berbotto, G A, García, M A, Perandones, C E, Truedsson, L, Steinsson, K, Sturfelt, G, Pons-Estel, B, and Alarcón-Riquelme, M E

Published
2007
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3. Chromosome 17p12-q11 harbors susceptibility loci for systemic lupus erythematosus

Author

Johansson, C. M., Zunec, R., Garía, M. A., Scherbarth, H. R., Tate, G. A., Paira, S., Navarro, S. M., Perandones, C. E., Gamron, S., Alvarellos, A., Graf, C. E., Manni, J., Berbotto, G. A., Palatnik, S. A., Luis Jose Catoggio, Battagliotti, C. G., Sebastiani, G. D., Migliaresi, S., Galeazzi, M., Pons-Estel, B. A., Alarcón-Riquelme, M. E., Gunnarsson, I., Svennungson, E., Gordon, C., Jonsson, R., Moutsopoulos, H., Doria, A., Marcos, J. C., Marcos, A. I., Marino, P. C., Motta, E. L., Allevi, A., Presas, J. L., Roverano, A., Louteiro, C., Ramos, F. A., Prigione, C. S., Eimon, A., Drenkard, C., Menso, E., Caeiro, F., Bertoli, A., Caprarulo, C., Buchanan, G., Bertero, E., Grimaudo, S., Guillersn, C., Jorfen, M., Romero, E. J., Abdala, M., Bearzotti, M., Soriano, E. R., Santos, C. D., and Battagliotti, C. A.

Subjects
Adult, Male, Candidate gene, Genotype, Argentina, Locus (genetics), Biology, Genome, Systemic lupus erythematosus (SLE), microsatellites, genome scan, Genetics, medicine, Humans, Lupus Erythematosus, Systemic, Genetic Predisposition to Disease, Promoter Regions, Genetic, Gene, Genetics (clinical), Aged, Autoimmune disease, Chromosome Mapping, Middle Aged, medicine.disease, Human genetics, Pedigree, Chromosome 17 (human), Europe, Italy, Microsatellite, Female, Chromosomes, Human, Pair 17, Microsatellite Repeats
Abstract

Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by the presence of autoantibodies against intracellular components, the formation of immune complexes, and inflammation in various organs, typically the skin and kidney glomeruli. The etiology of the disease is not well understood but is most likely the result of the interaction between genetic and environmental factors. In order to identify susceptibility loci for SLE, we have performed genome scans with microsatellite markers covering the whole genome in families from Argentina, Italy, and Europe. The results reveal a heterogeneous disease with different susceptibility loci in different family sets. We have found significant linkage to chromosome 17p12-q11 in the Argentine set of families. The maximum LOD score was given by marker D17S1294 in combination with D17S1293, when assuming a dominant inheritance model (Z = 3.88). We also analyzed a repeat in the promoter region of the NOS2A gene, a strong candidate gene in the region, but no association was found. The locus on chromosome 17 has previously been identified in genetic studies of multiple sclerosis families. Several other interesting regions were found at 1p35, 1q31, 3q26, 5p15, 11q23 and 19q13, confirming previously identified loci for SLE or other autoimmune diseases.

Published
2004

4. Preferential Binding to Elk-1 by SLE-Associated IL10 Risk Allele Upregulates IL10 Expression

Author

Sakurai, D., Zhao, J., Deng, Y., Kelly, J. A., Brown, E. E., Harley, J. B., Bae, S. C., Alarcón-Riquelme, M. E., Edberg, J. C., Kimberly, R. P., Ramsey-Goldman, R., Caeiro, F., Soriano, E. R., Bertoli, A., Prigione, C., Ramos, F. A., Romero, E. J., Tsao, B. P., Chen, W., Truedsson, L., Yu, C. Y., Migliarese, S., García, M. A., Marcos, J. C., Eimon, A., Sánchez-Román, J., Battagliotti, C. G., Kaufman, K. M., Vyse, T. J., Jacob, C. O., Gaffney, P. M., Sebastiani, G. D., Ramón, Enrique de, Hahn, B. H., Song, Y. W., Grossman, J. M., Sivils, K. M., James, J. A., Kamen, D. L., Gilkeson, G. S., Niewold, T. B., D'Alfonso, Sandra, Merrill, J. T., Martín, J., Scofield, R. H., Chang, D. M., Criswell, L. A., Langefeld, C. D., Stevens, A. M., Cantor, R. M., Frostegård, Johan, Boackle, S. A., Kim, J. H., Choi, J., Pons-Estel, B. A., Freedman, Barry I., Sabio, José Mario, Anaya, J. M., Ortego-Centeno, N., Callejas-Rubio, J. L., González-Escribano, María Francisca, Buchanan, G., Graf, C. E., Paira, S., Galeazzi, M., Witte, Torsten, Lauwerys, B. R., Endreffy, E., Kovács, L., Vasconcelos, C., Silva, B. M. da, Scherbarth, H. R., Catoggio, L. J., Manni, J., Caprarulo, C., Guillerón, C., Marino, P. C., Motta, E. L., Gamron, S., Drenkard, C., Menso, E., Allievi, A., Roverano, S., Tate, G. A., Bertero, E., Presas, J. L., Navarro, S. M., Parque, S., Grimaudo, S., Palatnik, S. A., Abdala, M., Acevedo, E., Bearzotti, M., Santos, C. D., Alvarellos, A., Berbotto, G. A., Jorfen, M., Marcos, A. I., Perandones, C. E., Cucho, M., Torre, I. G. de la, Ríos, M. C., Moctezuma, J. F., Ceceña, M. M., Petri, M. A., Vilá, Luis M., Reveille, J. D., Alarcón, G. S., Sakurai, D., Zhao, J., Deng, Y., Kelly, J. A., Brown, E. E., Harley, J. B., Bae, S. C., Alarcón-Riquelme, M. E., Edberg, J. C., Kimberly, R. P., Ramsey-Goldman, R., Caeiro, F., Soriano, E. R., Bertoli, A., Prigione, C., Ramos, F. A., Romero, E. J., Tsao, B. P., Chen, W., Truedsson, L., Yu, C. Y., Migliarese, S., García, M. A., Marcos, J. C., Eimon, A., Sánchez-Román, J., Battagliotti, C. G., Kaufman, K. M., Vyse, T. J., Jacob, C. O., Gaffney, P. M., Sebastiani, G. D., Ramón, Enrique de, Hahn, B. H., Song, Y. W., Grossman, J. M., Sivils, K. M., James, J. A., Kamen, D. L., Gilkeson, G. S., Niewold, T. B., D'Alfonso, Sandra, Merrill, J. T., Martín, J., Scofield, R. H., Chang, D. M., Criswell, L. A., Langefeld, C. D., Stevens, A. M., Cantor, R. M., Frostegård, Johan, Boackle, S. A., Kim, J. H., Choi, J., Pons-Estel, B. A., Freedman, Barry I., Sabio, José Mario, Anaya, J. M., Ortego-Centeno, N., Callejas-Rubio, J. L., González-Escribano, María Francisca, Buchanan, G., Graf, C. E., Paira, S., Galeazzi, M., Witte, Torsten, Lauwerys, B. R., Endreffy, E., Kovács, L., Vasconcelos, C., Silva, B. M. da, Scherbarth, H. R., Catoggio, L. J., Manni, J., Caprarulo, C., Guillerón, C., Marino, P. C., Motta, E. L., Gamron, S., Drenkard, C., Menso, E., Allievi, A., Roverano, S., Tate, G. A., Bertero, E., Presas, J. L., Navarro, S. M., Parque, S., Grimaudo, S., Palatnik, S. A., Abdala, M., Acevedo, E., Bearzotti, M., Santos, C. D., Alvarellos, A., Berbotto, G. A., Jorfen, M., Marcos, A. I., Perandones, C. E., Cucho, M., Torre, I. G. de la, Ríos, M. C., Moctezuma, J. F., Ceceña, M. M., Petri, M. A., Vilá, Luis M., Reveille, J. D., and Alarcón, G. S.

Abstract

Immunoregulatory cytokine interleukin-10 (IL-10) is elevated in sera from patients with systemic lupus erythematosus (SLE) correlating with disease activity. The established association of IL10 with SLE and other autoimmune diseases led us to fine map causal variant(s) and to explore underlying mechanisms. We assessed 19 tag SNPs, covering the IL10 gene cluster including IL19, IL20 and IL24, for association with SLE in 15,533 case and control subjects from four ancestries. The previously reported IL10 variant, rs3024505 located at 1 kb downstream of IL10, exhibited the strongest association signal and was confirmed for association with SLE in European American (EA) (P = 2.7×10-8, OR = 1.30), but not in non-EA ancestries. SNP imputation conducted in EA dataset identified three additional SLE-associated SNPs tagged by rs3024505 (rs3122605, rs3024493 and rs3024495 located at 9.2 kb upstream, intron 3 and 4 of IL10, respectively), and SLE-risk alleles of these SNPs were dose-dependently associated with elevated levels of IL10 mRNA in PBMCs and circulating IL-10 protein in SLE patients and controls. Using nuclear extracts of peripheral blood cells from SLE patients for electrophoretic mobility shift assays, we identified specific binding of transcription factor Elk-1 to oligodeoxynucleotides containing the risk (G) allele of rs3122605, suggesting rs3122605 as the most likely causal variant regulating IL10 expression. Elk-1 is known to be activated by phosphorylation and nuclear localization to induce transcription. Of interest, phosphorylated Elk-1 (p-Elk-1) detected only in nuclear extracts of SLE PBMCs appeared to increase with disease activity. Co-expression levels of p-Elk-1 and IL-10 were elevated in SLE T, B cells and monocytes, associated with increased disease activity in SLE B cells, and were best downregulated by ERK inhibitor. Taken together, our data suggest that preferential binding of activated Elk-1 to the IL10 rs3122605-G allele upregulates IL10 expressio

Published
2013

5. Kallikrein genes are associated with lupus and glomerular basement membrane-specific antibody-induced nephritis in mice and humans

Author

Liu, Kui, Li, Quan-Zhen, Delgado-Vega, Angelica M., Abelson, Anna-Karin, Sánchez, Elena, Kelly, Jennifer A., Li, Li, Liu, Yang, Zhou, Jinchun, Yan, Mei, Ye, Qiu, Liu, Shenxi, Xie, Chun, Zhou, Xin J., Chung, Sharon A., Pons-Estel, Bernardo, Witte, Torsten, de Ramón, Enrique, Bae, Sang-Cheol, Barizzone, Nadia, Sebastiani, Gian Domenico, Merrill, Joan T., Gregersen, Peter K., Gilkeson, Gary G., Kimberly, Robert P., Vyse, Timothy J., Kim, Il, D'Alfonso, Sandra, Martin, Javier, Harley, John B., Criswell, Lindsey A., Wakeland, Edward K., Alarcón-Riquelme, Marta E., Mohan, Chandra, Danieli, M.G., Galeazzi, M., Querini, P.R., Migliaresi, S., Scherbarth, H.R., Lopez, J.A., 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., Guillerón, 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., Battagliotti, C.G., Armadi-Simab, K., Gross, W.L., Gromica-Ihle, E., Peter, H.H., Manger, K., Schnarr, S., Zeidler, H., Schmidt, R.E., Ortego, N., Callejas, J.L., Jiménez-Alonso, J., Sabio, M., Sánchez-Román, J., Garcia-Hernandez, F.J., Camps, M., López-Nevot, M.A., González-Escribano, M.F., Harley, J.H., Riquelme, M.A., Kimberly, R., Criswell, L., Langefeld, C., Tsao, B., Jacob, C., Liu, Kui, Li, Quan-Zhen, Delgado-Vega, Angelica M., Abelson, Anna-Karin, Sánchez, Elena, Kelly, Jennifer A., Li, Li, Liu, Yang, Zhou, Jinchun, Yan, Mei, Ye, Qiu, Liu, Shenxi, Xie, Chun, Zhou, Xin J., Chung, Sharon A., Pons-Estel, Bernardo, Witte, Torsten, de Ramón, Enrique, Bae, Sang-Cheol, Barizzone, Nadia, Sebastiani, Gian Domenico, Merrill, Joan T., Gregersen, Peter K., Gilkeson, Gary G., Kimberly, Robert P., Vyse, Timothy J., Kim, Il, D'Alfonso, Sandra, Martin, Javier, Harley, John B., Criswell, Lindsey A., Wakeland, Edward K., Alarcón-Riquelme, Marta E., Mohan, Chandra, Danieli, M.G., Galeazzi, M., Querini, P.R., Migliaresi, S., Scherbarth, H.R., Lopez, J.A., 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., Guillerón, 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., Battagliotti, C.G., Armadi-Simab, K., Gross, W.L., Gromica-Ihle, E., Peter, H.H., Manger, K., Schnarr, S., Zeidler, H., Schmidt, R.E., Ortego, N., Callejas, J.L., Jiménez-Alonso, J., Sabio, M., Sánchez-Román, J., Garcia-Hernandez, F.J., Camps, M., López-Nevot, M.A., González-Escribano, M.F., Harley, J.H., Riquelme, M.A., Kimberly, R., Criswell, L., Langefeld, C., Tsao, B., and Jacob, C.

Abstract

Immune-mediated nephritis contributes to disease in systemic lupus erythematosus, Goodpasture syndrome (caused by antibodies specific for glomerular basement membrane [anti-GBM antibodies]), and spontaneous lupus nephritis. Inbred mouse strains differ in susceptibility to anti-GBM antibody-induced and spontaneous lupus nephritis. This study sought to clarify the genetic and molecular factors that maybe responsible for enhanced immune-mediated renal disease in these models. When the kidneys of 3 mouse strains sensitive to anti-GBM antibody-induced nephritis were compared with those of 2 control strains using microarray analysis, one-fifth of the underexpressed genes belonged to the kallikrein gene family,which encodes serine esterases. Mouse strains that upregulated renal and urinary kallikreins exhibited less evidence of disease. Antagonizing the kallikrein pathway augmented disease, while agonists dampened the severity of anti-GBM antibody-induced nephritis. In addition, nephritis-sensitive mouse strains had kallikrein haplotypes that were distinct from those of control strains, including several regulatory polymorphisms,some of which were associated with functional consequences. Indeed, increased susceptibility to anti-GBM antibody-induced nephritis and spontaneous lupus nephritis was achieved by breeding mice with a genetic interval harboring the kallikrein genes onto a disease-resistant background. Finally, both human SLE and spontaneous lupus nephritis were found to be associated with kallikrein genes, particularly KLK1 and the KLK3 promoter, when DNA SNPs from independent cohorts of SLE patients and controls were compared. Collectively, these studies suggest that kallikreins are protective disease-associated genes in anti-GBM antibody-induced nephritis and lupus.

Published
2009
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6. Amerindian ancestry in Argentina is associated with increased risk for systemic lupus erythematosus

Author

Seldin, M. F., Qi, L., Scherbarth, H. R., Tian, C., Ransom, M., Silva, G., Belmont, J. W., Gamron, S., Allievi, A., Palatnik, S. A., Saurit, V., Paira, S., Graf, C., Guillerón, C., Catoggio, L. J., Prigione, C., Berbotto, G. A., García, M. A., Perandones, C. E., Truedsson, L., Abderrahim, H., Battagliotti, C. G., Pons-Estel, B. A., Alarcon-Riquelme, Marta E., Seldin, M. F., Qi, L., Scherbarth, H. R., Tian, C., Ransom, M., Silva, G., Belmont, J. W., Gamron, S., Allievi, A., Palatnik, S. A., Saurit, V., Paira, S., Graf, C., Guillerón, C., Catoggio, L. J., Prigione, C., Berbotto, G. A., García, M. A., Perandones, C. E., Truedsson, L., Abderrahim, H., Battagliotti, C. G., Pons-Estel, B. A., and Alarcon-Riquelme, Marta E.

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 (<2%) contribution from West Africa. The results indicate that Amerindian admixture in this population is associated with a substantial increase in SLE susceptibility risk (Odds Ratio=7.94, P=0.00006). This difference was not due to known demographic factors, including site of collection, age and gender. In addition, there were trends towards significance for Amerindian ancestry influencing renal disease, age of onset and anti-SSA antibodies. These studies suggest that populations with Amerindian admixture, like those with West African admixture, should be considered in future studies to identify additional allelic variants that predispose to SLE.

Published
2008
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7. 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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8. Rheumatoid arthritis in the indigenous qom population of Rosario, Argentina: aggressive and disabling disease with inadequate adherence to treatment in a community-based cohort study.

Author

Quintana R, Goñi M, Mathern N, Jorfen M, Conti S, Nieto R, Sanabria A, Prigione C, Silvestre AMR, García V, Pons-Estel G, Cervera R, García C, Peláez-Ballestas I, Alarcón GS, and Pons-Estel BA

Subjects
Adolescent, Adult, Argentina ethnology, Arthritis, Rheumatoid diagnosis, Arthritis, Rheumatoid drug therapy, Cohort Studies, Female, Humans, Male, Middle Aged, Pilot Projects, Young Adult, Arthritis, Rheumatoid ethnology, Patient Compliance ethnology
Abstract

To describe the baseline and follow up epidemiological/clinical characteristics of rheumatoid arthritis (RA) in a community-based cohort of the qom population. RA (ACR criteria) patients identified (n = 40) or not (n = 25) in the previous study were included. Baseline and follow-up visits (3, 6, and 12 months) were performed. Treatment adherence and modification, disability (Health Assessment Questionnaire Disability Index-HAQ-DI), and Disease Activity [DAS-28 (ESR)] were ascertained. At 12 months, complete and incomplete lost to follow-up patients were identified. The estimated RA prevalence was 3%. The patients' mean (SD) disease duration was 110.5 (17.9) and their median delay in diagnosis 30.4 (IQR 52.8) months; mean (SD) age and years of formal education were 39.8 (1.6) and 5.3 (SD 0.3); 58 (89.2%) were female, and 89.2% were seropositive. At baseline, their mean DAS-28 (ESR) was 4.8 (SD 0.9) with 67.7% having high disease activity and 32.3% moderate; 76.9% reported HAQ-DI ≥ 0.8. At 12 months, three patients have died; 13 (20.9%) were "completely" and 19 (30.6%) "incompletely" lost to follow-up. There were favorable changes over time for disease activity (p ˂ 0.001), HAQ-DI (p ˂ 0.001), and treatment modifications (p ˂ 0.001) but no changes in treatment adherence (p = 0.260). The main cause of lost to follow-up was migration. This population has one of the highest RA prevalence rate reported. Patients had an aggressive and disabling disease, with poor adherence to treatment. Improvements of clinical parameters over time were observed.

Published
2018
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9. Prevalence of musculoskeletal disorders and rheumatic diseases in the indigenous Qom population of Rosario, Argentina.

Author

Quintana R, Silvestre AM, Goñi M, García V, Mathern N, Jorfen M, Miljevic J, Dhair D, Laithe M, Conti S, Midauar F, Martin MC, Barrios MC, Nieto R, Prigione C, Sanabria A, Gervasoni V, Grabbe E, Gontero R, Peláez-Ballestas I, and Pons-Estel BA

Subjects
Adult, Argentina epidemiology, Case-Control Studies, Cross-Sectional Studies, Disability Evaluation, Female, Humans, Logistic Models, Male, Middle Aged, Multivariate Analysis, Pain Measurement, Prevalence, Surveys and Questionnaires, Young Adult, Indians, South American, Musculoskeletal Pain ethnology, Rheumatic Diseases classification, Rheumatic Diseases ethnology
Abstract

This study aimed to estimate the prevalence of musculoskeletal disorders and rheumatic diseases among the indigenous Qom (Toba) population in the city of Rosario, Santa Fe, Argentina. An analytical cross-sectional study using methodology of the Community Oriented Program for the Control of Rheumatic Diseases (COPCORD) was performed. Subjects ≥18 years of age were interviewed by advanced students of medicine and nursing, bilingual translator-facilitators, and coordinators. Individuals with musculoskeletal pain (positive cases) were evaluated sequentially for 7 days by internists and rheumatologists for diagnosis and treatment. The study included 1656 individuals (77 % of the census population). Of these, 1020 (61.5 %) were female, with mean age of 35.3 (SD 13.9) years, and 1028 (62.0 %) were bilingual. The public health care system covers 87.1 % of the population. Musculoskeletal pain in the previous 7 days and/or at some time during their life was present in 890 subjects (53.7 %). Of those with pain in the last 7 days, 302 (64.1 %) subjects had an Health Assessment Questionnaire Disability Index (HAQ-DI) score ≥0.8. The most frequent pain sites were lumbar spine (19.3 %), knees (13.0 %), and hands (12.0 %). The prevalence of rheumatic diseases was as follows: mechanical back pain (20.1 %), rheumatic regional pain syndrome (2.9 %), osteoarthritis (4.0 %) rheumatoid arthritis (2.4 %), inflammatory back pain (0.2 %), systemic sclerosis (0.1 %), Sjögren syndrome (0.1 %), fibromyalgia (0.1 %), mixed connective tissue disease (0.06 %), and systemic lupus erythematosus (0.06 %). The prevalence of musculoskeletal disorders was 53.7 % and rheumatic diseases 29.6 %. Rheumatoid arthritis prevalence was 2.4 % using COPCORD methodology, one of the highest reported at present.

Published
2016
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10. Argentine population genetic structure: large variance in Amerindian contribution.

Author

Seldin MF, Tian C, Shigeta R, Scherbarth HR, Silva G, Belmont JW, Kittles R, Gamron S, Allevi A, Palatnik SA, Alvarellos A, Paira S, Caprarulo C, Guillerón C, Catoggio LJ, Prigione C, Berbotto GA, García MA, Perandones CE, Pons-Estel BA, and Alarcon-Riquelme ME

Subjects
Asian People genetics, Bayes Theorem, Black People genetics, Gene Frequency, Genetic Markers, Genetic Variation, Genetics, Population, Humans, Mexican Americans genetics, White People genetics, Indians, South American genetics
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., ((c) 2006 Wiley-Liss, Inc.)

Published
2007
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