title: Familial Aggregation and Segregation Analysis in Families Presenting Autoimmunity, Polyautoimmunity, and Multiple Autoimmune Syndrome.
abstract: 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.
authors.affiliation: Center for Autoimmune Diseases Research (CREA), School of Medicine and Health Sciences, Universidad del Rosario, Carrera 24 No. 63-C-69, Bogotá, Colombia ; Doctoral Program in Biomedical Sciences, Universidad del Rosario, Bogotá, Colombia.
authors.forename: John
authors.initials: J
authors.lastname: Castiblanco
authors.affiliation: Center for Autoimmune Diseases Research (CREA), School of Medicine and Health Sciences, Universidad del Rosario, Carrera 24 No. 63-C-69, Bogotá, Colombia.
authors.forename: Juan Camilo
authors.initials: JC
authors.lastname: Sarmiento-Monroy
authors.affiliation: Center for Autoimmune Diseases Research (CREA), School of Medicine and Health Sciences, Universidad del Rosario, Carrera 24 No. 63-C-69, Bogotá, Colombia.
authors.forename: Ruben Dario
authors.initials: RD
authors.lastname: Mantilla
authors.affiliation: Center for Autoimmune Diseases Research (CREA), School of Medicine and Health Sciences, Universidad del Rosario, Carrera 24 No. 63-C-69, Bogotá, Colombia.
authors.forename: Adriana
authors.initials: A
authors.lastname: Rojas-Villarraga
authors.affiliation: Center for Autoimmune Diseases Research (CREA), School of Medicine and Health Sciences, Universidad del Rosario, Carrera 24 No. 63-C-69, Bogotá, Colombia.
authors.forename: Juan-Manuel
authors.initials: JM
authors.lastname: Anaya
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D001327:Autoimmune Diseases / Q000453:epidemiology* / Q000235:genetics / Q000276:immunology; D015551:Autoimmunity / Q000235:genetics; D002648:Child; D003105:Colombia; D005260:Female; D005828:Genetics, Population; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D040641:Quantitative Trait Loci / Q000276:immunology; D019655:Quantitative Trait, Heritable; D012306:Risk; D012737:Sex Factors; D013577:Syndrome; D055815:Young Adult