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

Lill, C. M., Schjeide, B. M., Graetz, C., Ban, M., Alcina, A., Ortiz, M. A., et al. (2013). MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis. Brain, 136(6), 1778-1782. doi:Doi 10.1093/Brain/Awt101.

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International Multiple Sclerosis Genetics Consortium.pdf (Publisher version), 220KB
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The Author (2013). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved.




Lill, C. M.1, Author              
Schjeide, B. M.1, Author              
Graetz, C., Author
Ban, M., Author
Alcina, A., Author
Ortiz, M. A., Author
Perez, J., Author
Damotte, V., Author
Booth, D., Author
de Lapuente, A. L., Author
Broer, L., Author
Schilling, M., Author
Akkad, D. A., Author
Aktas, O., Author
Alloza, I., Author
Antiguedad, A., Author
Arroyo, R., Author
Blaschke, P., Author
Buttmann, M., Author
Chan, A., Author
Compston, A., AuthorCournu-Rebeix, I., AuthorDorner, T., AuthorEpplen, J. T., AuthorFernandez, O., AuthorGerdes, L. A., AuthorGuillot-Noel, L., AuthorHartung, H. P., AuthorHoffjan, S., AuthorIzquierdo, G., AuthorKemppinen, A., AuthorKroner, A., AuthorKubisch, C., AuthorKumpfel, T., AuthorLi, S. C., AuthorLindenberger, U., AuthorLohse, P., AuthorLubetzki, C., AuthorLuessi, F., AuthorMalhotra, S., AuthorMescheriakova, J., AuthorMontalban, X., AuthorPapeix, C., AuthorParedes, L. F., AuthorRieckmann, P., AuthorSteinhagen-Thiessen, E., AuthorWinkelmann, A., AuthorZettl, U. K., AuthorHintzen, R., AuthorVandenbroeck, K., AuthorStewart, G., AuthorFontaine, B., AuthorComabella, M., AuthorUrcelay, E., AuthorMatesanz, F., AuthorSawcer, S., AuthorBertram, L.1, Author              Zipp, F., AuthorGenetics, Int Multiple Sclerosis, Author more..
1Neuropsychiatric Genetics (Lars Bertram), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479655              


Free keywords: multiple sclerosis complex genetics genetic risk immunogenetics genetic association diagnostic-criteria human genome association guidelines linkage
 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.


Language(s): eng - English
 Dates: 2013-01-082013-02-252013
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: Other: WOS:000320114400011
DOI: Doi 10.1093/Brain/Awt101
ISSN: 0006-8950
URI: ://WOS:000320114400011http://brain.oxfordjournals.org/content/136/6/1778.full.pdf
 Degree: -



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Title: Brain
  Alternative Title : Brain
Source Genre: Journal
Publ. Info: Oxford
Pages: 5 Volume / Issue: 136 (6) Sequence Number: - Start / End Page: 1778 - 1782 Identifier: ISSN: 1778-1782