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dc.creatorCastiblanco, John 
dc.creatorAnaya, Juan-Manuel 
dc.date.accessioned2020-08-06T16:21:34Z
dc.date.available2020-08-06T16:21:34Z
dc.date.created2017-07-7
dc.identifier.issnEISSN: 1745-7580
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/26397
dc.description.abstract"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 early-onset multiplex families. A total of 372 genome-wide markers were used in the analysis. The standardized observed homozygosity (SOH) was calculated and the association of the homozygosity status and the autoimmune trait was evaluated. The multipoint model-free linkage analysis was applied by using RELPAL from S.A.G.E v6.3. Results for the SOH showed significant differences between controls and early-onset individuals, where early-onset affected individuals showed lower homozygosity relative to controls. No differences were observed relative to controls for MAS, polyA and late-onset disease at the genome-wide level. The local marker homozygosity effect showed share and specific risk and/or protective effects for 24 markers. The model-free affected pair linkage approach lacked any suggestive linkage signals, but marginal signals displayed excess allele sharing for extreme phenotypes in autoimmunity. This study presumed autoimmunity as a trait rather than a clinical phenotype and tried to approach AD as a continuous trait presenting extreme phenotypes. Future approaches would be expected to dwell on the data presented here to corroborate and expand on sample size, marker coverage and their effects."
dc.format.mimetypeapplication/pdf
dc.language.isoeng
dc.relation.ispartofImmunome Research, EISSN :1745-7580, Vol.13, No.3 (2017); 8 pp.
dc.relation.urihttps://www.longdom.org/open-access/homozygosity-analysis-in-autoimmunity-affected-individuals-andmultiplex-autoimmune-disease-families-1745-7580-10000136.pdf
dc.sourceImmunome Research
dc.titleHomozygosity analysis in autoimmunity affected individuals and multiplex autoimmune disease families
dc.typearticle
dc.publisherLongdom Group
dc.subject.keywordAutoimmunity
dc.subject.keywordAutoimmune disease
dc.subject.keywordFamilial autoimmunity
dc.subject.keywordHomozygosity
dc.subject.keywordPolyautoimmunity
dc.subject.keywordMultiple autoimmune syndrome
dc.subject.keywordLate-onset
dc.subject.keywordEarly-onset
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.type.spaArtículo
dc.rights.accesoAbierto (Texto Completo)
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.identifier.doihttps://doi.org/10.4172/1745-7580.10000136
dc.title.TranslatedTitleAnálisis de homocigosidad en individuos afectados de autoinmunidad y familias de enfermedades autoinmunes multiplex
dc.relation.citationIssueNo. 3
dc.relation.citationTitleImmunome Research
dc.relation.citationVolumeVol. 13


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