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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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  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/56575</identifier>
  <creators>
    <creator>
      <creatorName>Saruhan-Direskeneli, Guher</creatorName>
      <givenName>Guher</givenName>
      <familyName>Saruhan-Direskeneli</familyName>
      <affiliation>Istanbul Univ, Istanbul Fac Med, Dept Physiol, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Hughes, Travis</creatorName>
      <givenName>Travis</givenName>
      <familyName>Hughes</familyName>
    </creator>
    <creator>
      <creatorName>Yilmaz, Vuslat</creatorName>
      <givenName>Vuslat</givenName>
      <familyName>Yilmaz</familyName>
      <affiliation>Istanbul Univ, Istanbul Fac Med, Dept Physiol, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Durmus, Hacer</creatorName>
      <givenName>Hacer</givenName>
      <familyName>Durmus</familyName>
      <affiliation>Istanbul Univ, Istanbul Fac Med, Dept Neurol, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Adler, Adam</creatorName>
      <givenName>Adam</givenName>
      <familyName>Adler</familyName>
      <affiliation>Oklahoma Med Res Fdn, Arthrit &amp; Clin Immunol, 825 NE 13th St, Oklahoma City, OK 73104 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Alahgholi-Hajibehzad, Mandi</creatorName>
      <givenName>Mandi</givenName>
      <familyName>Alahgholi-Hajibehzad</familyName>
      <affiliation>Istanbul Univ, Istanbul Fac Med, Dept Physiol, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Aysal, Fikret</creatorName>
      <givenName>Fikret</givenName>
      <familyName>Aysal</familyName>
      <affiliation>Bakirkoy Res &amp; Training Hosp Psychiat &amp; Neurol Di, Dept Neurol, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Yentur, Sibel P.</creatorName>
      <givenName>Sibel P.</givenName>
      <familyName>Yentur</familyName>
      <affiliation>Istanbul Univ, Istanbul Fac Med, Dept Physiol, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Akalin, Mehmet Ali</creatorName>
      <givenName>Mehmet Ali</givenName>
      <familyName>Akalin</familyName>
      <affiliation>Istanbul Univ, Cerrahpasa Med Fac, Dept Neurol, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Dogan, Oner</creatorName>
      <givenName>Oner</givenName>
      <familyName>Dogan</familyName>
      <affiliation>Istanbul Univ, Istanbul Fac Med, Dept Pathol, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Marx, Alexander</creatorName>
      <givenName>Alexander</givenName>
      <familyName>Marx</familyName>
      <affiliation>Heidelberg Univ, Univ Med Ctr Mannheim, Inst Pathol, Mannheim, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Gulsen-Parman, Yesim</creatorName>
      <givenName>Yesim</givenName>
      <familyName>Gulsen-Parman</familyName>
      <affiliation>Istanbul Univ, Istanbul Fac Med, Dept Neurol, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Oflazer, Piraye</creatorName>
      <givenName>Piraye</givenName>
      <familyName>Oflazer</familyName>
      <affiliation>Istanbul Univ, Istanbul Fac Med, Dept Neurol, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Deymeer, Feza</creatorName>
      <givenName>Feza</givenName>
      <familyName>Deymeer</familyName>
      <affiliation>Istanbul Univ, Istanbul Fac Med, Dept Neurol, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Sawalha, Amr H.</creatorName>
      <givenName>Amr H.</givenName>
      <familyName>Sawalha</familyName>
      <affiliation>Univ Michigan, Dept Internal Med, Div Rheumatol, Ann Arbor, MI 48109 USA</affiliation>
    </creator>
  </creators>
  <titles>
    <title>Genetic Heterogeneity Within The Hla Region In Three Distinct Clinical Subgroups Of Myasthenia Gravis</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2016</publicationYear>
  <dates>
    <date dateType="Issued">2016-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/56575</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1016/j.clim.2016.05.003</relatedIdentifier>
  </relatedIdentifiers>
  <rightsList>
    <rights rightsURI="http://www.opendefinition.org/licenses/cc-by">Creative Commons Attribution</rights>
    <rights rightsURI="info:eu-repo/semantics/openAccess">Open Access</rights>
  </rightsList>
  <descriptions>
    <description descriptionType="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 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.</description>
  </descriptions>
</resource>
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