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Homozygosity analysis in autoimmunity affected individuals and multiplex autoimmune disease families
| dc.creator | Castiblanco, John | spa |
| dc.creator | Anaya, Juan-Manuel | |
| dc.date.accessioned | 2020-08-06T16:21:34Z | |
| dc.date.available | 2020-08-06T16:21:34Z | |
| dc.date.created | 2017-07-07 | spa |
| dc.date.issued | 2017-07-07 | |
| 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. | eng |
| dc.format.mimetype | application/pdf | |
| dc.identifier.doi | https://doi.org/10.4172/1745-7580.10000136 | |
| dc.identifier.issn | EISSN: 1745-7580 | |
| dc.identifier.uri | https://repository.urosario.edu.co/handle/10336/26397 | |
| dc.language.iso | eng | spa |
| dc.publisher | Longdom Group | spa |
| dc.relation.citationIssue | No. 3 | |
| dc.relation.citationTitle | Immunome Research | |
| dc.relation.citationVolume | Vol. 13 | |
| dc.relation.ispartof | Immunome Research, EISSN :1745-7580, Vol.13, No.3 (2017); 8 pp. | spa |
| dc.relation.uri | https://www.longdom.org/open-access/homozygosity-analysis-in-autoimmunity-affected-individuals-andmultiplex-autoimmune-disease-families-1745-7580-10000136.pdf | spa |
| dc.rights.accesRights | info:eu-repo/semantics/openAccess | |
| dc.rights.acceso | Abierto (Texto Completo) | spa |
| dc.source | Immunome Research | spa |
| dc.source.instname | instname:Universidad del Rosario | |
| dc.source.reponame | reponame:Repositorio Institucional EdocUR | |
| dc.subject.keyword | Autoimmunity | spa |
| dc.subject.keyword | Autoimmune disease | spa |
| dc.subject.keyword | Familial autoimmunity | spa |
| dc.subject.keyword | Homozygosity | spa |
| dc.subject.keyword | Polyautoimmunity | spa |
| dc.subject.keyword | Multiple autoimmune syndrome | spa |
| dc.subject.keyword | Late-onset | spa |
| dc.subject.keyword | Early-onset | spa |
| dc.title | Homozygosity analysis in autoimmunity affected individuals and multiplex autoimmune disease families | spa |
| dc.title.TranslatedTitle | Análisis de homocigosidad en individuos afectados de autoinmunidad y familias de enfermedades autoinmunes multiplex | spa |
| dc.type | article | eng |
| dc.type.hasVersion | info:eu-repo/semantics/publishedVersion | |
| dc.type.spa | Artículo | spa |
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