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ÍtemSolo MetadatosBcl-2 antagonist killer 1 (BAK1) polymorphisms influence the risk of developing autoimmune rheumatic diseases in women(2010) Delgado-Vega, A M; Castiblanco, J; Gómez, L M; Diaz-Gallo, L-M; Rojas-Villarraga, A; Anaya, Juan-ManuelObjective: Bcl-2 antagonist killer 1 (BAK1) is a Bcl-2 family proapoptotic member suggested as a candidate gene for autoimmune diseases. The influence of BAK1 polymorphisms on the risk of developing autoimmune rheumatic diseases (AIRDs) in women was investigated. Methods: A total of 719 Colombian women were included in the present study: 209 had systemic lupus erythematosus, 99 primary Sjögren syndrome, 159 rheumatoid arthritis and 252 were healthy matched controls. Tag single nucleotide polymorphisms (SNPs) and potentially functional variants were typed by TaqMan allele discrimination assays. HLA-DRB1 and HLA-DQB1 typing was performed by reverse dot-blot hybridisation and linkage disequilibrium (LD) with BAK1 SNPs was assessed. Results: SNPs rs513349 (odds ratio (OR) 0.57, 95% CI 0.46 to 0.72, p= less than 0.001) and rs5745582 (OR 1.61, 95% CI 1.26 to 2.04, p= less than 0.001) were associated with the AIRDs included in this study. There was a significant increase of the rs513349G-rs561276C-rs5745582A (GCA) haplotype in each patient cohort as compared to controls (OR 1.95, 95% CI 1.50 to 2.54, p= less than 0.001). These SNPs were not in LD with HLA-DRB1 or HLA-DQB1 genes. Conclusions: The results indicate that the BAK1 polymorphisms influence the risk of acquiring AIRDs in the population studied and are consistent with the paradigm that autoimmune diseases are likely to share common susceptibility variants.- ÍtemSolo MetadatosInfluence of STAT4 polymorphism in primary Sjögren's syndrome(2010) Palomino-Morales R.J.; Diaz-Gallo L.-M.; Witte T.; Anaya, Juan-Manuel; Martín J.Objective. To examine the influence of STAT4 rs7574865 gene polymorphism on patients with primary Sjögren's syndrome (SS). Methods. Two different cohorts were studied: 69 patients with primary SS and 296 controls from Colombia and 108 patients with primary SS and 227 controls from Germany. Samples were genotyped for the STAT4 rs7574865 single-nucleotide polymorphism with a predesigned TaqMan single-nucleotide polymorphism genotyping assay. We carried out a metaanalysis of our results combined with data published to date. Results. Although no significant differences were observed in the allele frequencies of STAT4 rs7574865 gene polymorphism between patients and controls in Colombians (p = 0.28, OR 1.24, 95% CI 0.82-1.87) and Germans (p = 0.08, OR 1.40, 95% CI 0.96-2.02), the metaanalysis disclosed a significant effect of the T allele on disease (p = 4.7 = 10-6, OR 1.40, 95% CI 1.21-1.62). Conclusion. These data reinforce the influence of STAT4 gene on primary SS and as a general autoimmune gene. The Journal of Rheumatology Copyright © 2010. All rights reserved.
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The impact of rheumatoid foot on disability in Colombian patients with rheumatoid arthritis(2009) Rojas-Villarraga, Adriana; Bayona, Javier; Zuluaga, Natalia; Mejia, Santiago; Hincapie, Maria-Eugenia; Anaya, Juan-ManuelBackground. Alterations in the feet of patients with rheumatoid arthritis (RA) are a cause of disability in this population. The purpose of this research was to evaluate the impact that foot impairment has on the patients' global quality of life (QOL) based on validated scales and its relationship to disease activity. Methods. This was a cross-sectional study in which 95 patients with RA were enrolled. A complete physical examination, including a full foot assessment, was done. The Spanish versions of the Health Assessment Questionnaire (HAQ) Disability Index and of the Disease Activity Score (DAS 28) were administered. A logistic regression model was used to analyze data and obtain adjusted odds ratios (AORs). Results. Foot deformities were observed in 78 (82%) of the patients; hallux valgus (65%), medial longitudinal arch flattening (42%), claw toe (lesser toes) (39%), dorsiflexion restriction (tibiotalar) (34%), cock-up toe (lesser toes) (25%), and transverse arch flattening (25%) were the most frequent. In the logistic regression analysis (adjusted for age, gender and duration of disease), forefoot movement pain, subtalar movement pain, tibiotalar movement pain and plantarflexion restriction (tibiotalar) were strongly associated with disease activity and disability. The positive squeeze test was significantly associated with disability risk (AOR = 6,3; 95% CI, 1.2830.96; P = 0,02); hallux valgus, and dorsiflexion restriction (tibiotalar) were associated with disease activity. Conclusion. Foot abnormalities are associated with active joint disease and disability in RA. Foot examinations provide complementary information related to the disability as an indirect measurement of quality of life and activity of disease in daily practice. © 2009 Rojas-Villarraga et al; licensee BioMed Central Ltd. - ÍtemSolo MetadatosLaminin-1 (LM-111) in preeclampsia and systemic lupus erythematosus(2013) Páez, Maria-Carolina; Matsuura, Eiji; Díaz, Luis A.; Shoenfeld, Yehuda; Serrano, Norma C.; Anaya, Juan-ManuelBackground: Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by the production of antibodies. SLE has been associated with placental pathology, a finding that is also the determinant in preeclampsia (PE). Genetic evidence and serologic reports suggest laminin-1 (LM-111) as an immunogenic molecule and its polymorphic gene as a candidate gene for both disorders. Objective: To evaluate the association between LAMA1 (rs543355) and LAMC1 (rs20563) polymorphisms and the presence of SLE and PE as well as to determine serum levels of anti-LM-111 autoantibodies in the PE group. Methods: Group A: 169 women with PE and 172 healthy pregnant women. Group B: 204 women with SLE and 204 healthy women. Anti-LM-111 for group A was measured by ELISA and the genotyping was done by using a PCR system. Results: Group A: Levels of anti-LM-111 was similar in women with PE and the control group (p = 0.3). The allelic frequencies and genotypes did not show statistically significant differences for LAMA1 and LAMC1 polymorphisms. Group B: Significant differences between SLE patients and controls for rs543355 polymorphism were not observed. Nevertheless, LAMC1 rs20563 A-allele provided protection against the development of SLE (OR 0.73, 95%CI 0.55-0.96). Conclusions: Serum levels of anti-LM-111 at the third trimester of gestation do not seem to have any direct relationship with the presence of PE, and the SNPs evaluated are not associated with the risk of developing this disorder. LAMC1 polymorphism could be a protective factor for SLE. © Informa UK, Ltd.
- ÍtemSolo MetadatosGluten sensitivity in multiple sclerosis: Experimental myth or clinical truth(2009) Shor, Dana Ben?Ami; Barzilai, Ori; Ram, Maya; Izhaky, David; Porat?Katz, Bat Sheva; Chapman, Joab; Blank, Miri; Anaya, Juan-Manuel; Shoenfeld, YehudaPatients with neurological disease of unknown etiology sometimes present with antigliadin and antitissue transglutaminase antibodies. The association between these antibodies and multiple sclerosis has been previously suggested. The purpose of this study was to determine the prevalence of these antibodies in multiple sclerosis patients. We determined the level of serum immunoglobulin A and immunoglobulin G antigliadin and antitissue transglutaminase antibodies in 98 patients with multiple sclerosis. We found a highly significant increase in titers of immunoglobulin G antibodies against gliadin and tissue transglutaminase in the multiple sclerosis patients. Seven patients had a positive IgG AGA, whereas only 2 controls presented positive titers (P = 0.03). Four patients had positive IgG anti-tTG while all the controls tested negative (P = 0.02). However, immunoglobulin A antibodies against gliadin and tissue transglutaminase were not statistically higher in the multiple sclerosis group in comparison to the control group. Our findings support the associations between antibodies against gliadin and tissue transglutaminase to multiple sclerosis. The specific role of these antibodies in the pathogenesis of multiple sclerosis remains uncertain and requires additional research. A gluten free diet should be considered in specific cases of patients who present with gluten antibodies. © 2009 New York Academy of Sciences.
- ÍtemSolo MetadatosQuality of life in multiple sclerosis and other chronic autoimmune and non-autoimmune diseases(2009) Hincapié-Zapata M.E.; Suárez-Escudero J.C.; Pineda-Tamayo R.; Anaya, Juan-ManuelIntroduction. Diseases that involve the nervous system and the musculoskeletal system are particularly likely to produce different limitations and deficits, and to affect the individual conception of quality of life. Aim. To determine the impact on quality of life generated by chronic autoimmune diseases like multiple sclerosis (MS), rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), Sjogren's syndrome (SS), ankylosing spondylitis (AS) and chronic musculotendinous diseases like osteoarthritis (OA) and fibromyalgia (FM), using the Short Form 36-item (SF-36) health questionnaire. Patients and methods. A descriptive cross-sectional study was conducted between January 2004 and June 2006 and included 509 individuals, of whom 56 had MS, 36 SS, 24 AS, 200 RA, 65 SLE, 54 OA and 74 FM. Guided interviews were conducted to evaluate each sphere of the SF-36 health questionnaire. The statistical analysis was performed using the general lineal model, with means differences according to each diagnosis. Results. Compared to patients with RA, those with MS showed significant differences in the physical functioning and social functioning dimensions. The lowest score was recorded in those with FM, except in physical functioning, where MS had the lowest mean. No differences were found in the mean scores on general conception of the state of health in each condition analysed. Conclusions. Different neurological functions deteriorate progressively in MS, which has repercussions on the musculoskeletal system; this leads to a poorer quality of life, mainly in the physical and social functions. The disability generated is not only defined by deficit but also by the degrees of functional limitation within the context of personal health. Quality of life thus becomes a global biopsychosocial phenomenon. © 2009, REVISTA DE NEUROLOGÍA.
- ÍtemAcceso AbiertoThe simultaneous presence of IL-1B and TNFA two-positions risk haplotypes enhances the susceptibility for celiac disease(2008) Cherñavsky, Alejandra Claudia; Páez, María Carolina; Periolo, Natalia; Correa, Paula; Guillén, Laura; Niveloni, Sonia Isabel; Mauriño, Eduardo; Bai, Julio César; Anaya, Juan-ManuelTo assess the joint contribution of interleukin 1 beta (IL-1B) and tumor necrosis factor alpha (TNF?) to the genetic risk of developing celiac disease (CD), we analyzed four biallelic polymorphisms of TNFA and IL-1B genes in 228 patients and 244 healthy controls. The individual contribution of TNFA -308A and IL-1B -511C alleles was weak (OR 1.47 and 1.66, respectively) and was null for TNFA -238 A/G and IL-1B +3953 C/T single nucleotide polymorphisms (SNPs). Due to the potential linkage disequilibrium between TNFA, human leukocyte antigen (HLA) -DQA1 and HLA-DQB1 genes, only individuals carrying DQ2 antigen (DQ2-positive) were considered to perform haplotype analyses. Two-position risk haplotypes were first defined by the combined presence of -511C and +3953T alleles for IL-1B (OR 9.402) or -308A and -238A alleles for TNFA (OR 15.389). The TNFA/IL-1B combined haplotype-stratified association analysis showed that the simultaneous presence of TNFA risk and IL-1B non-risk haplotypes (OR 13.32) but not TNFA non-risk and IL-1B risk haplotypes (OR 0.71) is associated with CD. Interestingly, our data suggest that the coexistence of both risk haplotypes seems to work synergistically (OR 29.59), which enhances the risk of developing CD. © 2008 Elsevier Ltd. All rights reserved.
- ÍtemAcceso AbiertoNon-synonymous variant (Gly307Ser) in CD226 is associated with susceptibility to multiple autoimmune diseases(2010) Maiti, Amit K.; Kim-Howard, Xana; Viswanathan, Parvathi; Guillén, Laura; Qian, Xiaoxia; Rojas-Villarraga, Adriana; Sun, Celi; Cañas, Carlos; Tobón, Gabriel J.; Matsuda, Koichi; Shen, Nan; Cherñavsky, Alejandra C.; Anaya, Juan-Manuel; Nath, Swapan K.Objectives. Recently, a non-synonymous (Gly307Ser) variant, rs763361, in the CD226 gene was shown to be associated with multiple autoimmune diseases (ADs) in European Caucasian populations. However, shared autoimmunity with CD226 has not been evaluated in non-European populations. The aim of the present study is to assess the association of this single nucleotide polymorphism (SNP) with ADs in non-European populations. Methods. To replicate this association in non-European populations, we evaluated case-control association between rs763361 and coeliac disease (CED) samples from Argentina; SLE, RA, type-1 diabetes (T1D) and primary SS (pSS) from Colombia; and SLE samples from China and Japan. We genotyped rs763361 and evaluated its genetic association with multiple ADs, using ?2-test. For each association, odds ratio (OR) and 95% CI were calculated. Results. We show that rs763361 is significantly associated with Argentinean CED (P = 0.0009, OR= 1.60). We also observed a trend of possible association with Chinese SLE (P = 0.01, OR= 1.19), RA (P = 0.047, OR= 1.25), SLE (P = 0.0899, OR= 1.24) and pSS (P = 0.09, OR= 1.33) in Colombians. Meta-analyses for SLE (using our three populations) and T1D (our population and three published populations) yielded significant association with rs763361, P = 0.009 (OR = 1.16) and P = 1.1.46×10-9 (OR = 1.14), respectively. Conclusions. Our results demonstrate that the coding variant rs763361 in CD226 gene is associated with multiple ADs in non-European populations. © The Author 2010. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org.
- ÍtemAcceso AbiertoSjögren's syndrome at the crossroad of polyautoimmunity(2012) Amador-Patarroyo, Manuel J.; Arbelaez, Juan Guillermo; Mantilla, Ruben D.; Rodriguez-Rodriguez, Alberto; Cárdenas-Roldán, Jorge; Pineda-Tamayo, Ricardo; Guarin, Mayra R.; Kleine, Liliana Lopez; Rojas-Villarraga, Adriana; Anaya, Juan-ManuelThe coexistence of autoimmune diseases (i.e., polyautoimmunity) in Sjögren's syndrome (SS) was investigated in a cross-sectional study involving 410 patients. Logistic regression analysis and the Rogers and Tanimoto index were used to evaluate risk factors and clustering, respectively. There were 134 (32.6%) patients with polyautoimmunity. The most frequent and closer coexistent diseases were autoimmune thyroid disease (21.5%), rheumatoid arthritis (8.3%), systemic lupus erythematosus (7.6%), and inflammatory bowel disease (0.7%) which together constituted a cluster group. There were 35 (8.5%) patients with multiple autoimmune syndrome. Besides disease duration, a history of habitual smoking and spontaneous abortion were found to be risk factors for the developing of polyautoimmunity. This study discloses a high prevalence of polyautoimmunity in SS, its associated risk factors and the grouping pattern of such a condition. These results may serve to define plausible approaches to study the common mechanisms of autoimmune diseases. © 2012 Elsevier Ltd.
- ÍtemSolo MetadatosAutonomic symptoms following Zika virus infection(2018) Rodríguez Velandia, Yhojan Alexis; Rojas M.; Ramírez Santana, Heily Carolina; Acosta Ampudia, Yeny Yasbleidy; Monsalve Carmona, Diana Marcela; Anaya, Juan-ManuelPurpose: To determine if autonomic symptoms are associated with previous Zika virus infection. Methods: Case–control study including 35 patients with Zika virus infection without evidence of neurological disease and 105 controls. Symptoms of autonomic dysfunction were assessed with the composite autonomic symptom scale 31 (COMPASS-31). Results: Patients with previous Zika virus infection had significantly higher COMPASS-31 score than controls regardless of age and sex (p = 0.007). The main drivers for the higher scores where orthostatic intolerance (p = 0.003), secretomotor (p = 0.04) and bladder symptoms (p less than 0.001). Conclusion: Zika virus infection is associated with autonomic dysfunction. The mechanisms remain to be elucidated. © 2018, Springer-Verlag GmbH Germany, part of Springer Nature.
