Immunome Research
Open Access

John Castiblanco

Publications

• Research Article
  Homozygosity Analysis in Autoimmunity Affected Individuals and Multiplex Autoimmune Disease Families
  Author(s): John Castiblanco and Juan-Manuel Anaya John Castiblanco and Juan-Manuel Anaya
  
  Autoimmune diseases (AD) are responsible for a substantial amount of disability and morbidity worldwide. Research generally focuses on a single disease, although autoimmune phenotypes could represent pleiotropic outcomes of non-specific disease genes underlying similar immunogenetic mechanisms. This report examined the effect and importance of the homozygosity status, using genome-wide interspersed markers, in individuals and multiplex families affected with AD. This study presented two approaches: (I) a case-control comparison and evaluation on the effect of homozygosity at the genome-wide level and per marker, including 453 unrelated individuals (121 late-, 79 early-onset AD, 40 polyautoimmunity (PolyA), 30 multiple autoimmune syndrome (MAS) and 183 healthy control individuals); and (II) a model-free affected pair linkage approach which included 35 MAS, 49 polyA, 104 late-, and 83 e.. View More»
  DOI: 10.4172/1745-7580.10000136

  Abstract PDF

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