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- ÍtemAcceso Abierto
STAT4 but not TRAF1/C5 variants influence the risk of developing rheumatoid arthritis and systemic lupus erythematosus in Colombians(2008) Palomino-Morales, R J; Rojas-Villarraga, A; González, C I; Ramírez, G; Anaya, Juan-Manuel; Martín, JThe aim of this study was to determine the influence of STAT4 (rs7574865) and TRAF1/C5 (rs10818488 and rs2900180) gene polymorphisms on the risk of developing rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) in a Colombian population. This was a case-control study in which 839 individuals with RA (N = 274) and SLE (N = 144) and matched healthy controls (N = 421) were included. Genotyping was performed by using a polymerase chain reaction system with pre-developed TaqMan allelic discrimination assay. STAT4 rs7574865T allele disclosed a significant influence on the risk of developing SLE (P = 0.0005; OR 1.62, 95% CI 1.22-2.16) and RA (P = 0.008; OR 1.36; 95% CI 1.08-1.71), whereas no effect on these autoimmune diseases was observed for the TRAF1/C5 polymorphisms examined. Our data strengthen STAT4 rs7574865 polymorphism as a susceptibility factor for RA and SLE and provide further evidence for a common origin of autoimmune diseases. 
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.
- ÍtemAcceso AbiertoThe 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.
- ÍtemAcceso AbiertoNerve conduction patterns in Guillain-Barré syndrome associated with zika virus infection in Cucuta, Colombia(2018-04-10) González-Bravo, Diana; Uncini, Antonino; Ojeda, Ernesto C.; Rodríguez Velandia, Yhojan Alexis; Monsalve Carmona, Diana Marcela; Vega, Daniel; Paipilla, Deyanira; Torres, Leidy; Osorio, Jorge E.; Anaya, Juan-Manuel; Acosta Ampudia, Yeny Yasbleidy; Ramírez Santana, Heily Carolina; Molano González, Nicolás; Anaya, Juan-Manuel; Molano González, NicolásBackground: Zika virus (ZIKV) infection has been associated with an increased incidence of Guillain-Barré syndrome (GBS) but the relative frequency of acute inflammatory demyelinating polyradiculoneuropathy (AIDP) and axonal GBS subtypes is controversial. Methods: Twenty-three GBS patients diagnosed according to Brighton criteria during the ZIKV outbreak in Cúcuta, Colombia, were evaluated clinically and electrophysiologically. Electrodiagnosis of GBS subtypes was made according to a recently described criteria set that proved to have a high diagnostic accuracy on the basis of a single test. The electrophysiological features of 34 Italian AIDP patients were used as control. Results: All patients had symptoms compatible with ZIKV infection before the onset of the GBS and the diagnosis of ZIKV infection was confirmed in 69.5 % of patients. Median time from onset of ZIKV infection symptoms to onset of GBS was 6 days (interquartile range, 6-14 days). Cranial nerve palsy was present in 82.6% of patients, facial palsy in 65.2%, autonomic dysfunction in 69.5%, and 43.4% of patients required mechanical ventilation. AIDP was diagnosed in 73.9% of patients. About 50% of nerves of the AIDP patients showed a prevalent demyelinating distal involvement but this pattern was not different from Italian AIDP patients without ZIKV infection. Conclusions: GBS associated with ZIKV infection is clinically characterized by a high frequency of cranial nerve involvement, autonomic dysfunction and necessity of mechanical ventilation indicating an aggressive and severe course. AIDP is the most frequent electrophysiological subtype. Demyelination is prevalently distal but this pattern is not specific of ZIKV infection.
- 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.
- ÍtemSolo MetadatosGender differences in latin-american patients with rheumatoid arthritis(2012) Barragán-Martínez, Carolina; Amaya-Amaya, Jenny; Pineda-Tamayo, Ricardo; Mantilla, Rubén D.; la Hoz, Juan Castellanos-de; Bernal-Macías, Santiago; Rojas-Villarraga, Adriana; Anaya, Juan-ManuelBackground: Data on the effect of gender in rheumatoid arthritis (RA) in non-Caucasian populations is scarce. Latin America and the Caribbean (LAC) is a large population with unique characteristics, including high admixture. Objective: Our aim was to examine the effect of gender in patients with RA in LAC. Methods: This was a 2-phase study. First we conducted a cross-sectional and analytical study in which 1128 consecutive Colombian patients with RA were assessed. Second, a systematic review of the literature was done to evaluate the effect of gender in LAC patients with RA. Results: Our results show a high prevalence of RA in LAC women with a ratio of 5.2 women per man. Colombian women with RA are more at risk of having an early age at onset and developing polyautoimmunity and abdominal obesity, and they perform more household duties than their male counterparts. However, male gender was associated with the presence of extra-articular manifestations. Of a total of 641 potentially relevant articles, 38 were considered for final analysis, in which several factors and outcomes related to gender were identified. Conclusions: RA in LAC women is not only more common but presents with some clinical characteristics that differ from RA presentation in men. Some of those characteristics could explain the high rates of disability and worse prognosis observed in women with RA in LAC. © 2012 Elsevier HS Journals, Inc.
- ÍtemAcceso AbiertoPolyautoimmunity and familial autoimmunity in systemic sclerosis(2008) Hudson, Marie; Rojas-Villarraga, Adriana; Coral-Alvarado, Paola; López Guzmán, Silvia; Mantilla, Ruben D.; Chalem, Philippe; Group, Canadian Scleroderma Research; Group, Colombian Scleroderma Research; Baron, Murray; Anaya, Juan-ManuelCharacterization of the extent to which particular combinations of autoimmune diseases occur in excess of that expected by chance may offer new insights into possible common pathophysiological mechanisms. The goal of this study was to investigate the spectrum of polyautoimmunity (i.e. autoimmune diseases co-occurring within patients) and familial autoimmunity (i.e. diverse autoimmune diseases co-occurring within families) in patients with systemic sclerosis (SSc). A cross-sectional study of two convenience samples of patients with SSc, one in Canada and the other in Colombia, was performed. History of other autoimmune diseases in the SSc patients as well as a family history of autoimmunity was obtained. Of 719 patients, 273 (38%) had at least one other autoimmune disease. A total of 366 autoimmune diseases were reported, of which the most frequent were autoimmune thyroid disease (AITD, 38%), rheumatoid arthritis (RA, 21%), Sjögren's syndrome (18%), and primary biliary cirrhosis (4%). There were 260 (36%) patients with first-degree relatives with at least one autoimmune disease, of which the most frequent were RA (18%) and AITD (9%). Having at least one first-degree relative with autoimmune disease was a significant predictor of polyautoimmunity in SSc patients. No significant differences in polyautoimmunity or familial autoimmunity were noted between diffuse and limited subsets of disease. Our results indicate that polyautoimmunity is frequent in patients with SSc and autoimmune diseases cluster within families of these patients. Clinically different autoimmune phenotypes might share common susceptibility variants, which acting in epistatic pleiotropy may represent risk factors for autoimmunity. © 2008 Elsevier Ltd. All rights reserved.
- ÍtemAcceso AbiertoA comprehensive analysis and immunobiology of autoimmune neurological syndromes during the Zika virus outbreak in Cúcuta, Colombia(2017) Anaya, Juan-Manuel; Rodríguez Velandia, Yhojan Alexis; Monsalve Carmona, Diana Marcela; Vega, Daniel; Ojeda, Ernesto; Gonzalez-Bravo, Diana; Rodríguez Jiménez, Mónica María del Pilar; Pinto-Díaz, Carlos A.; Chaparro, Pablo; Gunturiz, María L.; Ansari, Aftab A.; Gershwin, M. Eric; Molano González, Nicolás; Ramírez Santana, Heily Carolina; Acosta Ampudia, Yeny YasbleidyWe have focused on the epidemiology and immunobiology of Zika virus (ZIKV) infection and factors associated with the development of Guillain-Barré syndrome (GBS) and other neurological syndromes in Cúcuta, the capital of North Santander department, Colombia. Data of patients with ZIKV disease reported to the national population-based surveillance system were used to calculate the basic reproduction number (R0) and the attack rates (ARs) as well as to develop epidemiological maps. Patients with neurological syndromes were contacted and their diagnoses were confirmed. A case-control study in which 29 patients with GBS associated with ZIKV compared with 74-matched control patients with ZIKV infection alone was undertaken. Antibodies against arboviruses and other infections that may trigger GBS were evaluated. The estimated value of R0 ranged between 2.68 (95% CI 2.54–2.67) to 4.57 (95% CI 4.18–5.01). The sex-specific ARs were 1306 per 100,000 females, and 552 per 100,000 males. A non-linear interaction between age and gender on the ARs was observed. The incidence of GBS in Cúcuta increased 4.41 times secondary to ZIKV infection. The lag time between ZIKV infection and neurological symptoms was 7 days (interquartile range 2–14.5). Patients with GBS appeared to represent a lower socioeconomic status and were living near to environmentally contaminated areas. All GBS patients were positive for IgG antibodies against both ZIKV and Dengue virus, and 69% were positive for Chikungunya virus. Noteworthy, GBS was associated with a previous infection with M. pneumoniae (OR: 3.95; 95% CI 1.44–13.01; p = 0.006). No differences in antibody levels against C. jejuni, Epstein-Barr virus and cytomegalovirus were observed. High rates of cranial nerves involvement and dysautonomia were present in 82% and 75.9%, respectively. Intensive care unit (ICU) admission was necessary in 69% of the GBS patients. Most of the patients disclosed a high disability condition (Hughes grade 4). Dysautonomia was the main risk factor of poor GBS prognosis (i.e., ICU admission and disability). Thirteen patients were diagnosed with other neurological syndromes different to GBS (6 with transverse myelitis, 3 with encephalitis, 3 with peripheral facial palsy and one with thoraco-lumbosacral myelopathy). Our data confirm an increased transmission of ZIKV in Cúcuta, and provide support to the view that severe neurological syndromes are related to ZIKV disease. The complex ways by which previous infections and socioeconomic status interact to increase the risk of GBS in people infected by ZIKV should be further investigated. © 2016 The Authors
- ÍtemSolo MetadatosAutoimmunity in Guillain-Barré syndrome associated with Zika virus infection and beyond(2017) Pinto-Díaz C.A.; Rodríguez Velandia, Yhojan Alexis; Monsalve Carmona, Diana Marcela; Acosta Ampudia, Yeny Yasbleidy; Molano González, Nicolás; Anaya, Juan-Manuel; Ramírez Santana, Heily CarolinaAutoimmune diseases share common immunopathogenic mechanisms (i.e., the autoimmune tautology), which explain the clinical similarities among them as well as their familial clustering. Guillain-Barré syndrome (GBS), an autoimmune peripheral neuropathy, has been recently associated with Zika virus (ZIKV) infection. Based on a series of cases, this review article provides a comparative analysis of GBS associated with ZIKV infection, contrasted with the general characteristics of GBS in light of the autoimmune tautology, including gender differences in prevalence, subphenotypes, polyautoimmunity, familial autoimmunity, age at onset, pathophysiology, ecology, genetics, ancestry, and treatment. © 2017 Elsevier B.V.
