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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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{
  "@context": "https://schema.org/", 
  "@id": 56575, 
  "@type": "ScholarlyArticle", 
  "creator": [
    {
      "@type": "Person", 
      "affiliation": "Istanbul Univ, Istanbul Fac Med, Dept Physiol, Istanbul, Turkey", 
      "name": "Saruhan-Direskeneli, Guher"
    }, 
    {
      "@type": "Person", 
      "name": "Hughes, Travis"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Istanbul Univ, Istanbul Fac Med, Dept Physiol, Istanbul, Turkey", 
      "name": "Yilmaz, Vuslat"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Istanbul Univ, Istanbul Fac Med, Dept Neurol, Istanbul, Turkey", 
      "name": "Durmus, Hacer"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Oklahoma Med Res Fdn, Arthrit & Clin Immunol, 825 NE 13th St, Oklahoma City, OK 73104 USA", 
      "name": "Adler, Adam"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Istanbul Univ, Istanbul Fac Med, Dept Physiol, Istanbul, Turkey", 
      "name": "Alahgholi-Hajibehzad, Mandi"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Bakirkoy Res & Training Hosp Psychiat & Neurol Di, Dept Neurol, Istanbul, Turkey", 
      "name": "Aysal, Fikret"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Istanbul Univ, Istanbul Fac Med, Dept Physiol, Istanbul, Turkey", 
      "name": "Yentur, Sibel P."
    }, 
    {
      "@type": "Person", 
      "affiliation": "Istanbul Univ, Cerrahpasa Med Fac, Dept Neurol, Istanbul, Turkey", 
      "name": "Akalin, Mehmet Ali"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Istanbul Univ, Istanbul Fac Med, Dept Pathol, Istanbul, Turkey", 
      "name": "Dogan, Oner"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Heidelberg Univ, Univ Med Ctr Mannheim, Inst Pathol, Mannheim, Germany", 
      "name": "Marx, Alexander"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Istanbul Univ, Istanbul Fac Med, Dept Neurol, Istanbul, Turkey", 
      "name": "Gulsen-Parman, Yesim"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Istanbul Univ, Istanbul Fac Med, Dept Neurol, Istanbul, Turkey", 
      "name": "Oflazer, Piraye"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Istanbul Univ, Istanbul Fac Med, Dept Neurol, Istanbul, Turkey", 
      "name": "Deymeer, Feza"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Univ Michigan, Dept Internal Med, Div Rheumatol, Ann Arbor, MI 48109 USA", 
      "name": "Sawalha, Amr H."
    }
  ], 
  "datePublished": "2016-01-01", 
  "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.", 
  "headline": "Genetic heterogeneity within the HLA region in three distinct clinical subgroups of myasthenia gravis", 
  "identifier": 56575, 
  "image": "https://aperta.ulakbim.gov.tr/static/img/logo/aperta_logo_with_icon.svg", 
  "license": "http://www.opendefinition.org/licenses/cc-by", 
  "name": "Genetic heterogeneity within the HLA region in three distinct clinical subgroups of myasthenia gravis", 
  "url": "https://aperta.ulakbim.gov.tr/record/56575"
}
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