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

Saruhan-Direskeneli, Guher; Hughes, Travis; Yilmaz, Vuslat; Durmus, Hacer; Adler, Adam; Alahgholi-Hajibehzad, Mandi; Aysal, Fikret; Yentur, Sibel P.; Akalin, Mehmet Ali; Dogan, Oner; Marx, Alexander; Gulsen-Parman, Yesim; Oflazer, Piraye; Deymeer, Feza; Sawalha, Amr H.


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    "creators": [
      {
        "affiliation": "Istanbul Univ, Istanbul Fac Med, Dept Physiol, Istanbul, Turkey", 
        "name": "Saruhan-Direskeneli, Guher"
      }, 
      {
        "name": "Hughes, Travis"
      }, 
      {
        "affiliation": "Istanbul Univ, Istanbul Fac Med, Dept Physiol, Istanbul, Turkey", 
        "name": "Yilmaz, Vuslat"
      }, 
      {
        "affiliation": "Istanbul Univ, Istanbul Fac Med, Dept Neurol, Istanbul, Turkey", 
        "name": "Durmus, Hacer"
      }, 
      {
        "affiliation": "Oklahoma Med Res Fdn, Arthrit & Clin Immunol, 825 NE 13th St, Oklahoma City, OK 73104 USA", 
        "name": "Adler, Adam"
      }, 
      {
        "affiliation": "Istanbul Univ, Istanbul Fac Med, Dept Physiol, Istanbul, Turkey", 
        "name": "Alahgholi-Hajibehzad, Mandi"
      }, 
      {
        "affiliation": "Bakirkoy Res & Training Hosp Psychiat & Neurol Di, Dept Neurol, Istanbul, Turkey", 
        "name": "Aysal, Fikret"
      }, 
      {
        "affiliation": "Istanbul Univ, Istanbul Fac Med, Dept Physiol, Istanbul, Turkey", 
        "name": "Yentur, Sibel P."
      }, 
      {
        "affiliation": "Istanbul Univ, Cerrahpasa Med Fac, Dept Neurol, Istanbul, Turkey", 
        "name": "Akalin, Mehmet Ali"
      }, 
      {
        "affiliation": "Istanbul Univ, Istanbul Fac Med, Dept Pathol, Istanbul, Turkey", 
        "name": "Dogan, Oner"
      }, 
      {
        "affiliation": "Heidelberg Univ, Univ Med Ctr Mannheim, Inst Pathol, Mannheim, Germany", 
        "name": "Marx, Alexander"
      }, 
      {
        "affiliation": "Istanbul Univ, Istanbul Fac Med, Dept Neurol, Istanbul, Turkey", 
        "name": "Gulsen-Parman, Yesim"
      }, 
      {
        "affiliation": "Istanbul Univ, Istanbul Fac Med, Dept Neurol, Istanbul, Turkey", 
        "name": "Oflazer, Piraye"
      }, 
      {
        "affiliation": "Istanbul Univ, Istanbul Fac Med, Dept Neurol, Istanbul, Turkey", 
        "name": "Deymeer, Feza"
      }, 
      {
        "affiliation": "Univ Michigan, Dept Internal Med, Div Rheumatol, Ann Arbor, MI 48109 USA", 
        "name": "Sawalha, Amr H."
      }
    ], 
    "description": "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 x 10(-16)), HLA-B*08:01 (OR = 7.04 [3.95-12.52], P = 3.34 x 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 x 10(-6)) and in MuSK-MG, an intronic variant within HLA-DQB1 (rs68081734, OR = 5.86, P = 2.25 x 10(-14)) and HIA-DQB1*05:02 (OR = 8.56, P = 6.88 x 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. (C) 2016 Elsevier Inc. All rights reserved.", 
    "doi": "10.1016/j.clim.2016.05.003", 
    "has_grant": false, 
    "journal": {
      "pages": "81-88", 
      "title": "CLINICAL IMMUNOLOGY", 
      "volume": "166"
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    }, 
    "publication_date": "2016-01-01", 
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    "title": "Genetic heterogeneity within the HLA region in three distinct clinical subgroups of myasthenia gravis"
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