Familial Aggregation and Segregation Analysis in Families Presenting Autoimmunity, Polyautoimmunity, and Multiple Autoimmune Syndrome

John Castiblanco, Juan Camilo Sarmiento-Monroy, Ruben Dario Mantilla, Adriana Rojas-Villarraga, Juan Manuel Anaya

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11 Citas (Scopus)

Resumen

Studies documenting increased risk of developing autoimmune diseases (ADs) have shown that these conditions share several immunogenetic mechanisms (i.e., the autoimmune tautology). This report explored familial aggregation and segregation of AD, polyautoimmunity, and multiple autoimmune syndrome (MAS) in 210 families. Familial aggregation was examined for first-degree relatives. Segregation analysis was implemented as in S.A.G.E. release 6.3. Data showed differences between late- and early-onset families regarding their age, age of onset, and sex. Familial aggregation of AD in late- and early-onset families was observed. For polyautoimmunity as a trait, only aggregation was observed between sibling pairs in late-onset families. No aggregation was observed for MAS. Segregation analyses for AD suggested major gene(s) with no clear discernible classical known Mendelian transmission in late-onset families, while for polyautoimmunity and MAS no model was implied. Data suggest that polyautoimmunity and MAS are not independent traits and that gender, age, and age of onset are interrelated factors influencing autoimmunity.

Idioma originalInglés estadounidense
Número de artículo572353
PublicaciónJournal of Immunology Research
Volumen2015
DOI
EstadoPublicada - 2015

Áreas temáticas de ASJC Scopus

  • Inmulogía y alergología
  • Inmunología

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