Search

Your search keyword '"Vandenbroeck, K"' showing total 255 results
Start Over Author "Vandenbroeck, K"
255 results on '"Vandenbroeck, K"'

3. Response to interferon-beta treatment in multiple sclerosis patients: a genome-wide association study

Author

Mahurkar, S, Moldovan, M, Suppiah, V, Sorosina, M, Clarelli, F, Liberatore, G, Malhotra, S, Montalban, X, Antigüedad, A, Krupa, M, Jokubaitis, V G, McKay, F C, Gatt, P N, Fabis-Pedrini, M J, Martinelli, V, Comi, G, Lechner-Scott, J, Kermode, A G, Slee, M, Taylor, B V, Vandenbroeck, K, Comabella, M, Boneschi, F M, Australian, The, and King, C

Published
2016
Full Text
View/download PDF

5. ANKRD55 and DHCR7 are novel multiple sclerosis risk loci

Author

Alloza, I, Otaegui, D, de Lapuente, A Lopez, Antigüedad, A, Varadé, J, Núñez, C, Arroyo, R, Urcelay, E, Fernandez, O, Leyva, L, Fedetz, M, Izquierdo, G, Lucas, M, Oliver-Martos, B, Alcina, A, Saiz, A, Blanco, Y, Comabella, M, Montalban, X, Olascoaga, J, Matesanz, F, and Vandenbroeck, K

Published
2012
Full Text
View/download PDF

10. NLRP3 inflammasome as prognostic factor and therapeutic target in primary progressive multiple sclerosis patients

Author

Malhotra, S., Costa, C., Eixarch, H., Keller, C.W., Amman, L., Martínez-Banaclocha, H., Midaglia, L., Sarró, E., Machín-Díaz, Isabel, Villar, L.M., Triviño, J.C., Oliver-Martos, Begoña, Parladé, L.N., Calvo-Barreiro, L., Matesanz, F., Vandenbroeck, K., Urcelay, E., Martínez-Ginés, M.L., Tejeda-Velarde, A., Fissolo, N., Castilló, J., Sanchez, A., Robertson, A.A.B., Clemente, Diego, Prinz, M., Pelegrín, Pablo, Lünemann, J.D., Espejo, C., Montalbán, Xavier, Comabella, Manuel, Malhotra, S., Costa, C., Eixarch, H., Keller, C.W., Amman, L., Martínez-Banaclocha, H., Midaglia, L., Sarró, E., Machín-Díaz, Isabel, Villar, L.M., Triviño, J.C., Oliver-Martos, Begoña, Parladé, L.N., Calvo-Barreiro, L., Matesanz, F., Vandenbroeck, K., Urcelay, E., Martínez-Ginés, M.L., Tejeda-Velarde, A., Fissolo, N., Castilló, J., Sanchez, A., Robertson, A.A.B., Clemente, Diego, Prinz, M., Pelegrín, Pablo, Lünemann, J.D., Espejo, C., Montalbán, Xavier, and Comabella, Manuel

Abstract

Primary progressive multiple sclerosis is a poorly understood disease entity with no specific prognostic biomarkers and scarce therapeutic options. We aimed to identify disease activity biomarkers in multiple sclerosis by performing an RNA sequencing approach in peripheral blood mononuclear cells from a discovery cohort of 44 untreated patients with multiple sclerosis belonging to different clinical forms and activity phases of the disease, and 12 healthy control subjects. A validation cohort of 58 patients with multiple sclerosis and 26 healthy control subjects was included in the study to replicate the RNA sequencing findings. The RNA sequencing revealed an interleukin 1 beta (IL1B) signature in patients with primary progressive multiple sclerosis. Subsequent immunophenotyping pointed to blood monocytes as responsible for the IL1B signature observed in this group of patients. Functional experiments at baseline measuring apoptosis-associated speck-like protein containing a CARD (ASC) speck formation showed that the NOD-leucine rich repeat and pyrin containing protein 3 (NLRP3) inflammasome was overactive in monocytes from patients with primary progressive multiple sclerosis, and canonical NLRP3 inflammasome activation with a combination of ATP plus lipopolysaccharide was associated with increased IL1B production in this group of patients. Primary progressive multiple sclerosis patients with high IL1B gene expression levels in peripheral blood mononuclear cells progressed significantly faster compared to patients with low IL1B levels based on the time to reach an EDSS of 6.0 and the Multiple Sclerosis Severity Score. In agreement with peripheral blood findings, both NLRP3 and IL1B expression in brain tissue from patients with primary progressive multiple sclerosis was mainly restricted to cells of myeloid lineage. Treatment of mice with a specific NLRP3 inflammasome inhibitor attenuated established experimental autoimmune encephalomyelitis disease severity and impro

Published
2020

24. Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease

Author

Canada Research Chairs, Michael Smith Foundation for Health Research, Canadian Institutes of Health Research, Vancouver Coastal Health Research Institute, Milan & Maureen Ilich Foundation, Vancouver Foundation, Red Española de Esclerosis Múltiple, Ministerio de Economía y Competitividad (España), Junta de Andalucía, Vilariño-Güell, C., Zimprich, A., Martinelli-Boneschi, F., Herculano, B., Wang, Z., Matesanz, F., Urcelay, E., Vandenbroeck, K., Leyva, L., Gris, D., Massaad, C., Quandt, J.A., Traboulsee, A.L., Encarnacion, M., Bernales, C.Q., Follett, J., Yee, I.M., Criscuoli, M.G., Deutschländer, A., Reinthaler, E.M., Zrzavy, T., Mascia, E., Zauli, A., Esposito, Federica, Alcina, Antonio, Izquierdo, G., Espino-Paisan, Laura, Mena, J., Antigüedad, A., Urbaneja-Romero, P., Ortega-Pinazo, J., Song, W., Sadovnick, A.D., Canada Research Chairs, Michael Smith Foundation for Health Research, Canadian Institutes of Health Research, Vancouver Coastal Health Research Institute, Milan & Maureen Ilich Foundation, Vancouver Foundation, Red Española de Esclerosis Múltiple, Ministerio de Economía y Competitividad (España), Junta de Andalucía, Vilariño-Güell, C., Zimprich, A., Martinelli-Boneschi, F., Herculano, B., Wang, Z., Matesanz, F., Urcelay, E., Vandenbroeck, K., Leyva, L., Gris, D., Massaad, C., Quandt, J.A., Traboulsee, A.L., Encarnacion, M., Bernales, C.Q., Follett, J., Yee, I.M., Criscuoli, M.G., Deutschländer, A., Reinthaler, E.M., Zrzavy, T., Mascia, E., Zauli, A., Esposito, Federica, Alcina, Antonio, Izquierdo, G., Espino-Paisan, Laura, Mena, J., Antigüedad, A., Urbaneja-Romero, P., Ortega-Pinazo, J., Song, W., and Sadovnick, A.D.

Abstract

Multiple sclerosis (MS) is an inflammatory disease of the central nervous system characterized by myelin loss and neuronal dysfunction. Although the majority of patients do not present familial aggregation, Mendelian forms have been described. We performed whole-exome sequencing analysis in 132 patients from 34 multi-incident families, which nominated likely pathogenic variants for MS in 12 genes of the innate immune system that regulate the transcription and activation of inflammatory mediators. Rare missense or nonsense variants were identified in genes of the fibrinolysis and complement pathways (PLAU, MASP1, C2), inflammasome assembly (NLRP12), Wnt signaling (UBR2, CTNNA3, NFATC2, RNF213), nuclear receptor complexes (NCOA3), and cation channels and exchangers (KCNG4, SLC24A6, SLC8B1). These genes suggest a disruption of interconnected immunological and pro-inflammatory pathways as the initial event in the pathophysiology of familial MS, and provide the molecular and biological rationale for the chronic inflammation, demyelination and neurodegeneration observed in MS patients.

Published
2019

28. MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis

Author

Lill, C., Schjeide, B., Graetz, C., Ban, M., Alcina, A., Ortiz, M., Perez, J., Damotte, V., Booth, D., de Lapuente, A., Broer, L., Schilling, M., Akkad, D., Aktas, O., Alloza, I., Antiguedad, A., Arroyo, R., Blaschke, P., Buttmann, M., Chan, A., Compston, A., Cournu-Rebeix, I., Dorner, T., Epplen, J., Fernandez, O., Gerdes, L., Guillot-Noel, L., Hartung, H., Hoffjan, S., Izquierdo, G., Kemppinen, A., Kroner, A., Kubisch, C., Kumpfel, T., Li, S., Lindenberger, U., Lohse, P., Lubetzki, C., Luessi, F., Malhotra, S., Mescheriakova, J., Montalban, X., Papeix, C., Paredes, L., Rieckmann, P., Steinhagen-Thiessen, E., Winkelmann, A., Zettl, U., Hintzen, R., Vandenbroeck, K., Stewart, G., Fontaine, B., Comabella, M., Urcelay, E., Matesanz, F., Sawcer, S., Bertram, L., Zipp, F., Genetics, I., Epidemiology, Neurology, and International Multiple Sclerosis Genetics Consortium

Subjects
Male, Receptors, CXCR5, Oncology, medicine.medical_specialty, Multiple Sclerosis, Single-nucleotide polymorphism, Immunogenetics, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, alpha-Mannosidase, Polymorphism (computer science), Internal medicine, Databases, Genetic, medicine, Humans, Genetic Predisposition to Disease, Risk factor, 030304 developmental biology, Genetic association, Genetics, 0303 health sciences, SOXE Transcription Factors, Multiple sclerosis, Case-control study, Ribosomal Protein S6 Kinases, 70-kDa, Original Articles, Odds ratio, medicine.disease, 3. Good health, Genetic Loci, Case-Control Studies, Female, Neurology (clinical), 030217 neurology & neurosurgery, Transcription Factors
Abstract

A recent genome-wide association study reported five loci for which there was strong, but sub-genome-wide significant evidence for association with multiple sclerosis risk. The aim of this study was to evaluate the role of these potential risk loci in a large and independent data set of similar to 20 000 subjects. We tested five single nucleotide polymorphisms rs228614 (MANBA), rs630923 (CXCR5), rs2744148 (SOX8), rs180515 (RPS6KB1), and rs6062314 (ZBTB46) for association with multiple sclerosis risk in a total of 8499 cases with multiple sclerosis, 8765 unrelated control subjects and 958 trios of European descent. In addition, we assessed the overall evidence for association by combining these newly generated data with the results from the original genome-wide association study by meta-analysis. All five tested single nucleotide polymorphisms showed consistent and statistically significant evidence for association with multiple sclerosis in our validation data sets (rs228614: odds ratio = 0.91, P = 2.4 x 10(-6); rs630923: odds ratio = 0.89, P = 1.2 x 10(-4); rs2744148: odds ratio = 1.14, P = 1.8 x 10(-6); rs180515: odds ratio = 1.12, P = 5.2 x 10(-7); rs6062314: odds ratio = 0.90, P = 4.3 x 10(-3)). Combining our data with results from the previous genome-wide association study by meta-analysis, the evidence for association was strengthened further, surpassing the threshold for genome-wide significance (P < 5 x 10(-8)) in each case. Our study provides compelling evidence that these five loci are genuine multiple sclerosis susceptibility loci. These results may eventually lead to a better understanding of the underlying disease pathophysiology.

Published
2013

29. Response to interferon-beta treatment in multiple sclerosis patients: A genome-wide association study

Author

Mahurkar, S., Moldovan, M., Suppiah, V., Sorosina, M., Clarelli, F., Liberatore, G., Malhotra, S., Montalban, X., Antigüedad, A., Krupa, M., Jokubaitis, V.G., McKay, F.C., Gatt, P.N., Fabis-Pedrini, M.J., Martinelli, V., Comi, G., Lechner-Scott, J., Kermode, A.G., Slee, M., Taylor, B.V., Vandenbroeck, K., Comabella, M., Boneschi, F.M., King, C., Mahurkar, S., Moldovan, M., Suppiah, V., Sorosina, M., Clarelli, F., Liberatore, G., Malhotra, S., Montalban, X., Antigüedad, A., Krupa, M., Jokubaitis, V.G., McKay, F.C., Gatt, P.N., Fabis-Pedrini, M.J., Martinelli, V., Comi, G., Lechner-Scott, J., Kermode, A.G., Slee, M., Taylor, B.V., Vandenbroeck, K., Comabella, M., Boneschi, F.M., and King, C.

Abstract

Up to 50% of multiple sclerosis (MS) patients do not respond to interferon-beta (IFN-β) treatment and determination of response requires lengthy clinical follow-up of up to 2 years. Response predictive genetic markers would significantly improve disease management. We aimed to identify IFN-β treatment response genetic marker(s) by performing a two-stage genome-wide association study (GWAS). The GWAS was carried out using data from 151 Australian MS patients from the ANZgene/WTCCC2 MS susceptibility GWAS (responder (R)=51, intermediate responders=24 and non-responders (NR)=76). Of the single-nucleotide polymorphisms (SNP) that were validated in an independent group of 479 IFN-β-treated MS patients from Australia, Spain and Italy (R=273 and NR=206), eight showed evidence of association with treatment response. Among the replicated associations, the strongest was observed for FHIT (Fragile Histidine Triad; combined P-value 6.74 × 10−6) and followed by variants in GAPVD1 (GTPase activating protein and VPS9 domains 1; combined P-value 5.83 × 10−5) and near ZNF697 (combined P-value 8.15 × 10−5).

Published
2017

31. Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in Europeans

Author

Games Collaborative Group, Ban, M, Booth, D, Heard, R, Stewart, G, Goris, A, Vandenbroeck, K, Dubois, B, Laaksonen, M, Ilonen,J, Alizadeh, M, Edan, G, Babron, MC, Brassat, D, Clanet, M, Cournu Rebeix, I, Fontaine, B, Semana, G, Goedde, R, Epplen, J, Weber, A, Infante Duarte, C, Zipp, F, Rajda, C, Bencsik, K, Vécsei, L, Heggarty, S, Graham, C, Hawkins, S, Liguori,M, Momigliano Richiardi,P, Caputo, D, Grimaldi, LM, Leone, M, Massacesi, L, Milanese, C, Salvetti, M, Trojano, M, Bielecki, B, Mycko, MP, Selmaj, K, Santos, M, Maciel,P, Pereira,C, Silva,A, Silva,BM, Coraddu,F, Marrosu,MG, Akesson,E, Hillert,J, Datta,P, Oturai, A, Harbo, HF, Spurkland,A, Goertsches,R, Villoslada, P, Eraksoy, M, Hensiek,A, Compston,A, Setakis,E, Gray,J, Yeo,TW, Sawcer, S., SAVETTIERI, Giovanni, Games Collaborative Group, Ban, M, Booth, D, Heard, R, Stewart, G, Goris, A, Vandenbroeck, K, Dubois, B, Laaksonen, M, Ilonen,J, Alizadeh, M, Edan, G, Babron, MC, Brassat, D, Clanet, M, Cournu-Rebeix, I, Fontaine, B, Semana, G, Goedde, R, Epplen, J, Weber, A, Infante-Duarte, C, Zipp, F, Rajda, C, Bencsik, K, Vécsei, L, Heggarty, S, Graham, C, Hawkins, S, Liguori,M, Momigliano-Richiardi,P, Caputo, D, Grimaldi, LM, Leone, M, Massacesi, L, Milanese, C, Salvetti, M, Savettieri, G, Trojano, M, Bielecki, B, Mycko, MP, Selmaj, K, Santos, M, Maciel,P, Pereira,C, Silva,A, Silva,BM, Coraddu,F, Marrosu,MG, Akesson,E, Hillert,J, Datta,P, Oturai, A, Harbo, HF, Spurkland,A, Goertsches,R, Villoslada, P, Eraksoy, M, Hensiek,A, Compston,A, Setakis,E, Gray,J, Yeo,TW, and Sawcer, S.

Subjects
Multiple sclerosis, Genome screen, Linkage disequilibrium, Meta-analysi, Settore MED/26 - Neurologia, JAG1, POU2AF1
Abstract

By combining all the data available from the Genetic Analysis of Multiple sclerosis in EuropeanS (GAMES) project, we have been able to identify 17 microsatellite markers showing consistent evidence for apparent association. As might be expected five of these markers map within the Major Histocompatibility Complex (MHC) and are in LD with HLA-DRB1. Individual genotyping of the 12 non-MHC markers confirmed association for three of them — D11S1986, D19S552 and D20S894. Association mapping across the candidate genes implicated by these markers in 937 UK trio families revealed modestly associated haplotypes in JAG1 (p=0.019) on chromosome 20p12.2 and POU2AF1 (p=0.003) on chromosome 11q23.1.

Published
2006

32. Recycling Technologies to Close the Loop for PV Materials

Author

Meskers, C.E.M., Vandenbroeck, K., Vliegen, J., De Ruijter, I., Dalle, T., and Rigby, P.

Subjects
Manufacturing Issues and Processing, Thin Film Solar Cells
Abstract

25th European Photovoltaic Solar Energy Conference and Exhibition / 5th World Conference on Photovoltaic Energy Conversion, 6-10 September 2010, Valencia, Spain; 3683-3687, The present and future growth of the photovoltaic industry will place strong demands on certain PV metals or “critical” materials, which has led to a debate on their future availability. Typical for the PV metals silver, indium, selenium, tellurium, germanium, gallium and cadmium is that their primary supply mostly depends on the mining of major metals such as copper, lead or zinc. This coupled production affects metal supply. Effective recycling becomes a key issue in reducing the risk of potential supply shortages. A significant source of material is the waste created during cell and module manufacturing. The often complex nature of the material requires new technological solutions. Umicore has developed and operates an efficient and environmentally sound recycling process to recover Cu, In, Ga and Se from CIGS production scraps in addition to its existing spent ITO target recycling process. The processes close the metal loop by making material again available for manufacturing, and reduce the impact of price fluctuations as the supplier may remain owner of the metals during the recycling process. Lastly, being more cost and energy efficient than primary production recycling further enhances the green nature of PV technology.

Published
2010
Full Text
View/download PDF

33. IL28B polymorphisms are not associated with the response to interferon-beta in multiple sclerosis

Author

Malhotra, S., Morcillo-Suárez, C., Brassat, D., Goertsches, R., Lechner-Scott, J., Urcelay, E., Fernández, O., Drulovic, J., García-Merino, A., Martinelli Boneschi, F., Chan, A., Vandenbroeck, K., Navarro, A., Bustamante, M.F., Río, J., Akkad, D.A., Giacalone, G., Sánchez, A.J., Leyva, L., Alvarez-Lafuente, R., Zettl, U.K., Oksenberg, J., Montalban, X., and Comabella, M.

Published
2011
Full Text
View/download PDF

35. TNFRSF1A polymorphisms rs1800693 and rs4149584 in patients with multiple sclerosis

Author

Comabella, M., primary, Caminero, A. B., additional, Malhotra, S., additional, Agullo, L., additional, Fernandez, O., additional, Reverter, F., additional, Vandenbroeck, K., additional, Rodriguez-Antiguedad, A., additional, Matesanz, F., additional, Izquierdo, G., additional, Urcelay, E., additional, Lopez-Larios, A., additional, Sanchez, A., additional, Otero, S., additional, Tintore, M., additional, and Montalban, X., additional

Published
2013
Full Text
View/download PDF

36. Chitinase 3-like 1 plasma levels are increased in patients with progressive forms of multiple sclerosis

Author

Cantó, E, primary, Reverter, F, additional, Morcillo-Suárez, C, additional, Matesanz, F, additional, Fernández, O, additional, Izquierdo, G, additional, Vandenbroeck, K, additional, Rodríguez-Antigüedad, A, additional, Urcelay, E, additional, Arroyo, R, additional, Otaegui, D, additional, Olascoaga, J, additional, Saiz, A, additional, Navarro, A, additional, Sanchez, A, additional, Domínguez, C, additional, Caminero, A, additional, Horga, A, additional, Tintoré, M, additional, Montalban, X, additional, and Comabella, M, additional

Published
2011
Full Text
View/download PDF

37. ANKRD55 and DHCR7 are novel multiple sclerosis risk loci

Author

Alloza, I, primary, Otaegui, D, additional, de Lapuente, A Lopez, additional, Antigüedad, A, additional, Varadé, J, additional, Núñez, C, additional, Arroyo, R, additional, Urcelay, E, additional, Fernandez, O, additional, Leyva, L, additional, Fedetz, M, additional, Izquierdo, G, additional, Lucas, M, additional, Oliver-Martos, B, additional, Alcina, A, additional, Saiz, A, additional, Blanco, Y, additional, Comabella, M, additional, Montalban, X, additional, Olascoaga, J, additional, Matesanz, F, additional, and Vandenbroeck, K, additional

Published
2011
Full Text
View/download PDF

38. A cytokine gene screen uncovers SOCS1 as genetic risk factor for multiple sclerosis

Author

Vandenbroeck, K, primary, Alvarez, J, additional, Swaminathan, B, additional, Alloza, I, additional, Matesanz, F, additional, Urcelay, E, additional, Comabella, M, additional, Alcina, A, additional, Fedetz, M, additional, Ortiz, M A, additional, Izquierdo, G, additional, Fernandez, O, additional, Rodriguez-Ezpeleta, N, additional, Matute, C, additional, Caillier, S, additional, Arroyo, R, additional, Montalban, X, additional, Oksenberg, J R, additional, Antigüedad, A, additional, and Aransay, A, additional

Published
2011
Full Text
View/download PDF

39. Replication of top markers of a genome-wide association study in multiple sclerosis in Spain

Author

Cavanillas, M L, primary, Fernández, O, additional, Comabella, M, additional, Alcina, A, additional, Fedetz, M, additional, Izquierdo, G, additional, Lucas, M, additional, Cénit, M C, additional, Arroyo, R, additional, Vandenbroeck, K, additional, Alloza, I, additional, García-Barcina, M, additional, Antigüedad, A, additional, Leyva, L, additional, Gómez, C L, additional, Olascoaga, J, additional, Otaegui, D, additional, Blanco, Y, additional, Saiz, A, additional, Montalbán, X, additional, Matesanz, F, additional, and Urcelay, E, additional

Published
2010
Full Text
View/download PDF

40. Validation of IRF5 as multiple sclerosis risk gene: putative role in interferon beta therapy and human herpes virus-6 infection

Author

Vandenbroeck, K, primary, Alloza, I, additional, Swaminathan, B, additional, Antigüedad, A, additional, Otaegui, D, additional, Olascoaga, J, additional, Barcina, M G, additional, de las Heras, V, additional, Bartolomé, M, additional, Fernández-Arquero, M, additional, Arroyo, R, additional, Alvarez-Lafuente, R, additional, Cénit, M C, additional, and Urcelay, E, additional

Published
2010
Full Text
View/download PDF

48. Relevance of interleukin 1 receptor antagonist intron 2 polymorphism in Italian MS patients

Author

Sciacca, F.L., primary, Ferri, C., additional, Vandenbroeck, K., additional, Veglia, F., additional, Gobbi, C., additional, Martinelli, F., additional, Franciotta, D., additional, Zaffaroni, M., additional, Marrosu, M., additional, Martino, G., additional, Martinelli, V., additional, Comi, G., additional, Canal, N., additional, and Grimaldi, L.M. E., additional

Published
1999
Full Text
View/download PDF

49. Chitinase 3-like 1 plasma levels are increased in patients with progressive forms of multiple sclerosis.

Author

Cantó, E, Reverter, F, Morcillo-Suárez, C, Matesanz, F, Fernández, O, Izquierdo, G, Vandenbroeck, K, Rodríguez-Antigüedad, A, Urcelay, E, Arroyo, R, Otaegui, D, Olascoaga, J, Saiz, A, Navarro, A, Sanchez, A, Domínguez, C, Caminero, A, Horga, A, Tintoré, M, and Montalban, X

Subjects
CHITINASE, GLYCOSIDASES, BLOOD plasma, MULTIPLE sclerosis, ENZYME-linked immunosorbent assay, PATIENTS
Abstract

The article presents a study which examines the role of plasma chitinase 3-like 1 (CHI3LI) in patients with multiple sclerosis (MS) clinican course and the activity of disease. The study used enzyme-linked immunosorbent assay (ELISA) to determine the levels of plasma CHI3L1. Results showed that plasma CHI3L1 levels were importantly increased in patients with progressive for of MS compared with relapsing-remitting (RRMS) patients.

Published
2012
Full Text
View/download PDF

50. The MHC2TA−168A/G and +1614G/C polymorphisms and risk for multiple sclerosis or chronic inflammatory arthropathies.

Author

O'Doherty, C., Hawkins, S., Rooney, M., and Vandenbroeck, K.

Subjects
JOINT diseases, RHEUMATOLOGY, MULTIPLE sclerosis, DEMYELINATION, VIRUS diseases
Abstract

The −168A-G polymorphism has been shown to influence transcription of the MHC2TA gene and has been implicated in several inflammatory/autoimmune disorders. Attempts to reproduce these findings have been inconclusive. We investigated the role of this promoter single nucleotide polymorphism (SNP) in 440 multiple sclerosis (MS), 293 rheumatoid arthritis (RA), 74 juvenile idiopathic arthritis (JIA) patients and 316 healthy controls from Northern Ireland. We also genotyped a non-synonymous SNP in exon 11, +1614G/C. There was no significant difference in the −168G allele frequencies and carriage rates in the separate RA, JIA, or MS collections compared with the control group [odds ratio (OR) = 1.1, 95% confidence intervals (CI) = 0.86–1.44; OR = 1.1, 95% CI = 0.75–1.68; OR = 1.1, 95% CI = 0.84–1.35, respectively]. Assessment of the common phenotype (chronic inflammatory disease; n = 807 vs 316 controls) was negative as well. Carriage of +1614C was protective against JIA (OR = 0.6, 95% CI = 0.3–1.0) and showed a similar trend in RA and MS (OR = 0.7, 95% CI = 0.5–1.0; OR = 0.8, 95% CI = 0.6–1.0, respectively). The common phenotype (chronic inflammatory disease) was also significant (OR = 0.7, 95% CI = 0.6–1.0). [ABSTRACT FROM AUTHOR]

Published
2007
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results