| Literature DB >> 27181991 |
Güher Saruhan-Direskeneli1, Travis Hughes2, Vuslat Yilmaz3, Hacer Durmus4, Adam Adler5, Mahdi Alahgholi-Hajibehzad3, Fikret Aysal6, Sibel P Yentür3, Mehmet Ali Akalin7, Oner Dogan8, Alexander Marx9, Yesim Gülsen-Parman4, Piraye Oflazer4, Feza Deymeer4, Amr H Sawalha10.
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-B*08:01 (OR=7.04 [3.95-12.52], P=3.34×10(-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=2.48×10(-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.Entities:
Keywords: EOMG; Genome-wide association; LOMG; MuSK-MG; Myasthenia gravis
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Year: 2016 PMID： 27181991 DOI： 10.1016/j.clim.2016.05.003
Source DB: PubMed Journal: Clin Immunol ISSN： 1521-6616 Impact factor: 3.969