1 Ocak 2016 Dergi makalesi Açık Erişim

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.

Citation Style Language JSON

{
  "DOI": "10.1016/j.clim.2016.05.003", 
  "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.", 
  "author": [
    {
      "family": "Saruhan-Direskeneli", 
      "given": " Guher"
    }, 
    {
      "family": "Hughes", 
      "given": " Travis"
    }, 
    {
      "family": "Yilmaz", 
      "given": " Vuslat"
    }, 
    {
      "family": "Durmus", 
      "given": " Hacer"
    }, 
    {
      "family": "Adler", 
      "given": " Adam"
    }, 
    {
      "family": "Alahgholi-Hajibehzad", 
      "given": " Mandi"
    }, 
    {
      "family": "Aysal", 
      "given": " Fikret"
    }, 
    {
      "family": "Yentur", 
      "given": " Sibel P."
    }, 
    {
      "family": "Akalin", 
      "given": " Mehmet Ali"
    }, 
    {
      "family": "Dogan", 
      "given": " Oner"
    }, 
    {
      "family": "Marx", 
      "given": " Alexander"
    }, 
    {
      "family": "Gulsen-Parman", 
      "given": " Yesim"
    }, 
    {
      "family": "Oflazer", 
      "given": " Piraye"
    }, 
    {
      "family": "Deymeer", 
      "given": " Feza"
    }, 
    {
      "family": "Sawalha", 
      "given": " Amr H."
    }
  ], 
  "container_title": "CLINICAL IMMUNOLOGY", 
  "id": "56575", 
  "issued": {
    "date-parts": [
      [
        2016, 
        1, 
        1
      ]
    ]
  }, 
  "page": "81-88", 
  "title": "Genetic heterogeneity within the HLA region in three distinct clinical subgroups of myasthenia gravis", 
  "type": "article-journal", 
  "volume": "166"
}