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...

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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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oai_identifier_str oai:repository.urosario.edu.co:10336/26397
network_acronym_str EDOCUR2
network_name_str Repositorio EdocUR - U. Rosario
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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
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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
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https://repository.urosario.edu.co/handle/10336/26397
identifier_str_mv EISSN: 1745-7580
dc.language.iso.spa.fl_str_mv eng
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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
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dc.publisher.spa.fl_str_mv Longdom Group
dc.source.spa.fl_str_mv Immunome Research
institution Universidad del Rosario
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spelling 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