Genetic heterogeneity within the HLA region in three distinct clinical subgroups of myasthenia gravis.

Abstract	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=2.24×10(-16)), HLA-B08:01 (OR=7.04 [3.95-12.52], P=3.34×10(-11)) and HLA-C07:01 (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=2.48×10(-6)) and in MuSK-MG, an intronic variant within HLA-DQB1 (rs68081734, OR=5.86, P=2.25×10(-14)) and HLA-DQB1*05:02 (OR=8.56, P=6.88×10(-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.
Authors	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
Journal	Clinical immunology (Orlando, Fla.) (Clin Immunol) Vol. 166-167 Pg. 81-8 (05 2016) ISSN: 1521-7035 [Electronic] United States
PMID	27181991 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Copyright	Copyright © 2016 Elsevier Inc. All rights reserved.
Chemical References	HLA-B Antigens HLA-C Antigens HLA-DQ beta-Chains HLA-DQB1 antigen Receptors, Cholinergic MUSK protein, human Receptor Protein-Tyrosine Kinases
Topics	Age of Onset Alleles Female Gene Frequency Genetic Heterogeneity Genetic Predisposition to Disease (genetics) Genome, Human (genetics) Genome-Wide Association Study (methods) Genotype HLA-B Antigens (genetics, immunology) HLA-C Antigens (genetics, immunology) HLA-DQ beta-Chains (genetics, immunology) Humans Linkage Disequilibrium Male Myasthenia Gravis (epidemiology, genetics, immunology) Polymorphism, Single Nucleotide Receptor Protein-Tyrosine Kinases (immunology) Receptors, Cholinergic (immunology) Turkey (epidemiology)

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