Genetic heterogeneity within the HLA region in three distinct clinical subgroups of myasthenia gravis
This study aims to investigate genetic susceptibility to early-onset and late-onset anti-acetylcholine receptor antibody positive myasthenia gravis (EOMG and LOMG) and anti-muscle specific kinase antibody positive MG (MuSK-MG) at genome-wide level in a single population. Using a custom-designed arra...
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| Hauptverfasser: | , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
12 May 2016
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| In: |
Clinical immunology
Year: 2016, Jahrgang: 166-167, Pages: 81-88 |
| ISSN: | 1521-7035 |
| DOI: | 10.1016/j.clim.2016.05.003 |
| Online-Zugang: | Verlag, Volltext: https://doi.org/10.1016/j.clim.2016.05.003 Verlag, Volltext: http://www.sciencedirect.com/science/article/pii/S1521661616300766 
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| Verfasserangaben: | Güher Saruhan-Direskeneli, Travis Hughes, Vuslat Yilmaz, Hacer Durmus, Adam Adler, Mahdi Alahgholi-Hajibehzad, Fikret Aysal, Sibel P. Yentür, Mehmet Ali Akalin, Oner Dogan, Alexander Marx, Yesim Gülsen-Parman, Piraye Oflazer, Feza Deymeer, Amr H. Sawalha |
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| 245 | 1 | 0 | |a Genetic heterogeneity within the HLA region in three distinct clinical subgroups of myasthenia gravis |c Güher Saruhan-Direskeneli, Travis Hughes, Vuslat Yilmaz, Hacer Durmus, Adam Adler, Mahdi Alahgholi-Hajibehzad, Fikret Aysal, Sibel P. Yentür, Mehmet Ali Akalin, Oner Dogan, Alexander Marx, Yesim Gülsen-Parman, Piraye Oflazer, Feza Deymeer, Amr H. Sawalha |
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| 520 | |a This study aims to investigate genetic susceptibility to early-onset and late-onset anti-acetylcholine receptor antibody positive myasthenia gravis (EOMG and LOMG) and anti-muscle specific kinase antibody positive MG (MuSK-MG) at genome-wide level in a single population. Using a custom-designed array and imputing additional variants and the classical HLA alleles in 398 patients, we detected distinct associations. In EOMG, rs113519545 in the HLA class I region (OR=5.71 [3.77-8.66], P=2.24x10-16), HLA-B*08:01 (OR=7.04 [3.95-12.52], P=3.34x10-11) and HLA-C*07:01 (OR=2.74 [1.97-3.81], P=2.07-9), in LOMG, rs111256513 in the HLA class II region (OR=2.22 [1.59-3.09], P=2.48x10-6) and in MuSK-MG, an intronic variant within HLA-DQB1 (rs68081734, OR=5.86, P=2.25x10-14) and HLA-DQB1*05:02 (OR=8.56, P=6.88x10-13) revealed the most significant associations for genome-wide significance. Differential genetic susceptibility within the HLA to EOMG, LOMG and MuSK-MG has been established in a population from Turkey. | ||
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