دورية أكاديمية
Association of Genetic Markers with CSF Oligoclonal Bands in Multiple Sclerosis Patients
| العنوان: | Association of Genetic Markers with CSF Oligoclonal Bands in Multiple Sclerosis Patients |
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| المؤلفون: | Leone, Maurizio A., Barizzone, Nadia, Esposito, Federica, Lucenti, Ausiliatrice, Harbo, Hanne F., Goris, An, Kockum, Ingrid, Oturai, Annette Bang, Celius, Elisabeth Gulowsen, Mero, Inger L., Dubois, Bénédicte, Olsson, Tomas, Søndergaard, Helle Bach, Cusi, Daniele, Lupoli, Sara, Andreassen, Bettina Kulle, Barcellos, L., Booth, D., Comabella, M., Compston, A., D'Alfonso, Sandra, De Jager, P., Fontaine, B., Hafler, D., Haines, J., Hauser, S. L., Hawkins, C., Hemmer, B., Hillert, J., Ivinson, A., MARTIN, Rossella, Martinelli Boneschi, F., McCauley, J. L., Oksenberg, J., Oturai, A., Patsopoulos, N., Pericak-Vance, M., Saarela, J., Sawcer, S., Spurkland, A., Stewart, G., Zipp, F., Myhr, Kjell-Morten, Guerini, Franca R., Naldi, Paola, Galimberti, Daniela, Scarpini, Elio, Bergamaschi, Roberto, Di Sapio, Antonella, Caputo, Domenico, Rosso, Gabriella, Cordera, Susanna, Cavalla, Paola, Cavallo, Roberto, Benedetti, Maria D., Salvetti, Marco, Capra, Ruggero, Ghezzi, Angelo, Annovazzi, Pietro, Coniglio, Gabriella, Liberatore, Giuseppe, Rodegher, Mariaemma, Moiola, Lucia, Colombo, Bruno, Radaelli, Marta, Rossi, Paolo, Martinelli, Vittorio, Comi, Giancarlo, Martinelli-Boneschi, Filippo |
| المساهمون: | Leone, Maurizio A., Barizzone, Nadia, Esposito, Federica, Lucenti, Ausiliatrice, Harbo, Hanne F., Goris, An, Kockum, Ingrid, Oturai, Annette Bang, Celius, Elisabeth Gulowsen, Mero, Inger L., Dubois, Bénédicte, Olsson, Toma, Søndergaard, Helle Bach, Cusi, Daniele, Lupoli, Sara, Andreassen, Bettina Kulle, Barcellos, L., Booth, D., Comabella, M., Compston, A., D'Alfonso, Sandra, De Jager, P., Fontaine, B., Hafler, D., Haines, J., Hauser, S. L., Hawkins, C., Hemmer, B., Hillert, J., Ivinson, A., Martin, Rossella, Martinelli Boneschi, F., Mccauley, J. L., Oksenberg, J., Oturai, A., Patsopoulos, N., Pericak-Vance, M., Saarela, J., Sawcer, S., Spurkland, A., Stewart, G., Zipp, F., Myhr, Kjell-Morten, Guerini, Franca R., Naldi, Paola, Galimberti, Daniela, Scarpini, Elio, Bergamaschi, Roberto, Di Sapio, Antonella, Caputo, Domenico, Rosso, Gabriella, Cordera, Susanna, Cavalla, Paola, Cavallo, Roberto, Benedetti, Maria D., Salvetti, Marco, Capra, Ruggero, Ghezzi, Angelo, Annovazzi, Pietro, Coniglio, Gabriella, Liberatore, Giuseppe, Rodegher, Mariaemma, Moiola, Lucia, Colombo, Bruno, Radaelli, Marta, Rossi, Paolo, Martinelli, Vittorio, Comi, Giancarlo, Martinelli-Boneschi, Filippo |
| بيانات النشر: | Public Library of Science |
| سنة النشر: | 2013 |
| المجموعة: | Sapienza Università di Roma: CINECA IRIS |
| مصطلحات موضوعية: | adult, female, genetic marker, hla-drb1 chain, human, male, meta-analysis as topic, middle aged, multiple sclerosi, oligoclonal band, polymorphism, single nucleotide, young adult, genome-wide association study, biochemistry, genetics and molecular biology (all), agricultural and biological sciences (all) |
| الوصف: | Objective:to explore the association between genetic markers and Oligoclonal Bands (OCB) in the Cerebro Spinal Fluid (CSF) of Italian Multiple Sclerosis patients.Methods:We genotyped 1115 Italian patients for HLA-DRB1*15 and HLA-A*02. In a subset of 925 patients we tested association with 52 non-HLA SNPs associated with MS susceptibility and we calculated a weighted Genetic Risk Score. Finally, we performed a Genome Wide Association Study (GWAS) with OCB status on a subset of 562 patients. The best associated SNPs of the Italian GWAS were replicated in silico in Scandinavian and Belgian populations, and meta-analyzed.Results:HLA-DRB1*15 is associated with OCB+: p = 0.03, Odds Ratio (OR) = 1.6, 95% Confidence Limits (CL) = 1.1-2.4. None of the 52 non-HLA MS susceptibility loci was associated with OCB, except one SNP (rs2546890) near IL12B gene (OR: 1.45; 1.09-1.92). The weighted Genetic Risk Score mean was significantly (p = 0.0008) higher in OCB+ (7.668) than in OCB- (7.412) patients. After meta-analysis on the three datasets (Italian, Scandinavian and Belgian) for the best associated signals resulted from the Italian GWAS, the strongest signal was a SNP (rs9320598) on chromosome 6q (p = 9.4×10-7) outside the HLA region (65 Mb).Discussion:genetic factors predispose to the development of OCB. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/23785401; info:eu-repo/semantics/altIdentifier/wos/WOS:000321038800116; volume:8; issue:6; firstpage:1; lastpage:5; numberofpages:5; journal:PLOS ONE; http://hdl.handle.net/11573/1140155Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84879052306 |
| DOI: | 10.1371/journal.pone.0064408 |
| الإتاحة: | https://doi.org/10.1371/journal.pone.0064408Test http://hdl.handle.net/11573/1140155Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.F08FDCB8 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1371/journal.pone.0064408 |
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