Homozygosity analysis in autoimmunity affected individuals and multiplex autoimmune disease families
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...
- Autores:
- Tipo de recurso:
- Fecha de publicación:
- 2017
- Institución:
- Universidad del Rosario
- Repositorio:
- Repositorio EdocUR - U. Rosario
- Idioma:
- eng
- OAI Identifier:
- oai:repository.urosario.edu.co:10336/26397
- Acceso en línea:
- https://doi.org/10.4172/1745-7580.10000136
https://repository.urosario.edu.co/handle/10336/26397
- Palabra clave:
- Autoimmunity
Autoimmune disease
Familial autoimmunity
Homozygosity
Polyautoimmunity
Multiple autoimmune syndrome
Late-onset
Early-onset
- Rights
- License
- Abierto (Texto Completo)
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dc.title.spa.fl_str_mv |
Homozygosity analysis in autoimmunity affected individuals and multiplex autoimmune disease families |
dc.title.TranslatedTitle.spa.fl_str_mv |
Análisis de homocigosidad en individuos afectados de autoinmunidad y familias de enfermedades autoinmunes multiplex |
title |
Homozygosity analysis in autoimmunity affected individuals and multiplex autoimmune disease families |
spellingShingle |
Homozygosity analysis in autoimmunity affected individuals and multiplex autoimmune disease families Autoimmunity Autoimmune disease Familial autoimmunity Homozygosity Polyautoimmunity Multiple autoimmune syndrome Late-onset Early-onset |
title_short |
Homozygosity analysis in autoimmunity affected individuals and multiplex autoimmune disease families |
title_full |
Homozygosity analysis in autoimmunity affected individuals and multiplex autoimmune disease families |
title_fullStr |
Homozygosity analysis in autoimmunity affected individuals and multiplex autoimmune disease families |
title_full_unstemmed |
Homozygosity analysis in autoimmunity affected individuals and multiplex autoimmune disease families |
title_sort |
Homozygosity analysis in autoimmunity affected individuals and multiplex autoimmune disease families |
dc.subject.keyword.spa.fl_str_mv |
Autoimmunity Autoimmune disease Familial autoimmunity Homozygosity Polyautoimmunity Multiple autoimmune syndrome Late-onset Early-onset |
topic |
Autoimmunity Autoimmune disease Familial autoimmunity Homozygosity Polyautoimmunity Multiple autoimmune syndrome Late-onset Early-onset |
description |
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. |
publishDate |
2017 |
dc.date.created.spa.fl_str_mv |
2017-07-07 |
dc.date.issued.none.fl_str_mv |
2017-07-07 |
dc.date.accessioned.none.fl_str_mv |
2020-08-06T16:21:34Z |
dc.date.available.none.fl_str_mv |
2020-08-06T16:21:34Z |
dc.type.eng.fl_str_mv |
article |
dc.type.coarversion.fl_str_mv |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
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http://purl.org/coar/resource_type/c_6501 |
dc.type.spa.spa.fl_str_mv |
Artículo |
dc.identifier.doi.none.fl_str_mv |
https://doi.org/10.4172/1745-7580.10000136 |
dc.identifier.issn.none.fl_str_mv |
EISSN: 1745-7580 |
dc.identifier.uri.none.fl_str_mv |
https://repository.urosario.edu.co/handle/10336/26397 |
url |
https://doi.org/10.4172/1745-7580.10000136 https://repository.urosario.edu.co/handle/10336/26397 |
identifier_str_mv |
EISSN: 1745-7580 |
dc.language.iso.spa.fl_str_mv |
eng |
language |
eng |
dc.relation.citationIssue.none.fl_str_mv |
No. 3 |
dc.relation.citationTitle.none.fl_str_mv |
Immunome Research |
dc.relation.citationVolume.none.fl_str_mv |
Vol. 13 |
dc.relation.ispartof.spa.fl_str_mv |
Immunome Research, EISSN :1745-7580, Vol.13, No.3 (2017); 8 pp. |
dc.relation.uri.spa.fl_str_mv |
https://www.longdom.org/open-access/homozygosity-analysis-in-autoimmunity-affected-individuals-andmultiplex-autoimmune-disease-families-1745-7580-10000136.pdf |
dc.rights.coar.fl_str_mv |
http://purl.org/coar/access_right/c_abf2 |
dc.rights.acceso.spa.fl_str_mv |
Abierto (Texto Completo) |
rights_invalid_str_mv |
Abierto (Texto Completo) http://purl.org/coar/access_right/c_abf2 |
dc.format.mimetype.none.fl_str_mv |
application/pdf |
dc.publisher.spa.fl_str_mv |
Longdom Group |
dc.source.spa.fl_str_mv |
Immunome Research |
institution |
Universidad del Rosario |
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reponame:Repositorio Institucional EdocUR |
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51cf37f6-25b0-4152-ae95-bb2b21ce5d7e194747786002020-08-06T16:21:34Z2020-08-06T16:21:34Z2017-07-072017-07-07Autoimmune 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.application/pdfhttps://doi.org/10.4172/1745-7580.10000136EISSN: 1745-7580https://repository.urosario.edu.co/handle/10336/26397engLongdom GroupNo. 3Immunome ResearchVol. 13Immunome Research, EISSN :1745-7580, Vol.13, No.3 (2017); 8 pp.https://www.longdom.org/open-access/homozygosity-analysis-in-autoimmunity-affected-individuals-andmultiplex-autoimmune-disease-families-1745-7580-10000136.pdfAbierto (Texto Completo)http://purl.org/coar/access_right/c_abf2Immunome Researchinstname:Universidad del Rosarioreponame:Repositorio Institucional EdocURAutoimmunityAutoimmune diseaseFamilial autoimmunityHomozygosityPolyautoimmunityMultiple autoimmune syndromeLate-onsetEarly-onsetHomozygosity analysis in autoimmunity affected individuals and multiplex autoimmune disease familiesAnálisis de homocigosidad en individuos afectados de autoinmunidad y familias de enfermedades autoinmunes multiplexarticleArtículohttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_6501Castiblanco, JohnAnaya, Juan-ManuelORIGINALhomozygosity-analysis-in-autoimmunity-affected-individuals-andmultiplex-autoimmune-disease-families-1745-7580-10000136.pdfapplication/pdf993095https://repository.urosario.edu.co/bitstreams/89a63460-85b5-4f47-b188-e7ed81e0c731/download1464e68e5aeeb172a77460f40122f32fMD51TEXThomozygosity-analysis-in-autoimmunity-affected-individuals-andmultiplex-autoimmune-disease-families-1745-7580-10000136.pdf.txthomozygosity-analysis-in-autoimmunity-affected-individuals-andmultiplex-autoimmune-disease-families-1745-7580-10000136.pdf.txtExtracted texttext/plain48213https://repository.urosario.edu.co/bitstreams/90bdb148-bf79-412e-8351-c2ce7e4eea23/downloadbe8e238ce25229f33d04f3b176dfaae2MD52THUMBNAILhomozygosity-analysis-in-autoimmunity-affected-individuals-andmultiplex-autoimmune-disease-families-1745-7580-10000136.pdf.jpghomozygosity-analysis-in-autoimmunity-affected-individuals-andmultiplex-autoimmune-disease-families-1745-7580-10000136.pdf.jpgGenerated Thumbnailimage/jpeg5279https://repository.urosario.edu.co/bitstreams/aed4d850-e7e1-42d2-9266-e9a9170da147/download1196c46b4a0d2dbc43c8f7ef731ed817MD5310336/26397oai:repository.urosario.edu.co:10336/263972022-03-05 22:15:18.481https://repository.urosario.edu.coRepositorio institucional EdocURedocur@urosario.edu.co |