Common interacting genetic variation shapes susceptibility to type 1 diabetes in a Colombian Caribbean community: In search of shared genetic markers

In summary, our study outlines oligogenic common variation underpinning the susceptibility to develop T1D. These genetic polymorphisms are also shared by patients suffering from other diseases such as LN and JIA, indicating that the shared genetic architecture defined by pleiotropy and epistasis sha...

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Autores:
Garavito-De Egea, Gloria
Domínguez-Vargas, Alex
Vélez, Jorge I.
Aroca, Gustavo
Fang, Luis
Navarro-Quiroz, Elkin
Espitaleta, Zilac
Del Toro-Camargo, Kenny
Martínez-Ariza, Leticia
González-Vargas, Tatiana
García, Susana
Arcos-Burgos, Mauricio
Tipo de recurso:
Fecha de publicación:
2024
Institución:
Universidad Simón Bolívar
Repositorio:
Repositorio Digital USB
Idioma:
eng
OAI Identifier:
oai:bonga.unisimon.edu.co:20.500.12442/14702
Acceso en línea:
https://hdl.handle.net/20.500.12442/14702
https://doi.org/10.1016/j.gendis.2023.06.027
https://www.sciencedirect.com/science/article/pii/S2352304223003392?via%3Dihub
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openAccess
License
Attribution-NonCommercial-NoDerivs 3.0 United States
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dc.title.eng.fl_str_mv Common interacting genetic variation shapes susceptibility to type 1 diabetes in a Colombian Caribbean community: In search of shared genetic markers
title Common interacting genetic variation shapes susceptibility to type 1 diabetes in a Colombian Caribbean community: In search of shared genetic markers
spellingShingle Common interacting genetic variation shapes susceptibility to type 1 diabetes in a Colombian Caribbean community: In search of shared genetic markers
title_short Common interacting genetic variation shapes susceptibility to type 1 diabetes in a Colombian Caribbean community: In search of shared genetic markers
title_full Common interacting genetic variation shapes susceptibility to type 1 diabetes in a Colombian Caribbean community: In search of shared genetic markers
title_fullStr Common interacting genetic variation shapes susceptibility to type 1 diabetes in a Colombian Caribbean community: In search of shared genetic markers
title_full_unstemmed Common interacting genetic variation shapes susceptibility to type 1 diabetes in a Colombian Caribbean community: In search of shared genetic markers
title_sort Common interacting genetic variation shapes susceptibility to type 1 diabetes in a Colombian Caribbean community: In search of shared genetic markers
dc.creator.fl_str_mv Garavito-De Egea, Gloria
Domínguez-Vargas, Alex
Vélez, Jorge I.
Aroca, Gustavo
Fang, Luis
Navarro-Quiroz, Elkin
Espitaleta, Zilac
Del Toro-Camargo, Kenny
Martínez-Ariza, Leticia
González-Vargas, Tatiana
García, Susana
Arcos-Burgos, Mauricio
dc.contributor.author.none.fl_str_mv Garavito-De Egea, Gloria
Domínguez-Vargas, Alex
Vélez, Jorge I.
Aroca, Gustavo
Fang, Luis
Navarro-Quiroz, Elkin
Espitaleta, Zilac
Del Toro-Camargo, Kenny
Martínez-Ariza, Leticia
González-Vargas, Tatiana
García, Susana
Arcos-Burgos, Mauricio
description In summary, our study outlines oligogenic common variation underpinning the susceptibility to develop T1D. These genetic polymorphisms are also shared by patients suffering from other diseases such as LN and JIA, indicating that the shared genetic architecture defined by pleiotropy and epistasis shapes the genetic susceptibility of these disorders in this multiethnic population. Given the predicted functional nature of these genetic variants, it is very likely that in this understudied multiethnic population, genes harboring these mutations are major contributors to AID immunopathology and provide new insights into the autoimmune tautology in this group of diseases.
publishDate 2024
dc.date.accessioned.none.fl_str_mv 2024-05-30T19:48:12Z
dc.date.available.none.fl_str_mv 2024-05-30T19:48:12Z
dc.date.issued.none.fl_str_mv 2024
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dc.type.spa.spa.fl_str_mv Artículo científico
dc.identifier.issn.none.fl_str_mv 23523042
dc.identifier.uri.none.fl_str_mv https://hdl.handle.net/20.500.12442/14702
dc.identifier.doi.none.fl_str_mv https://doi.org/10.1016/j.gendis.2023.06.027
dc.identifier.url.none.fl_str_mv https://www.sciencedirect.com/science/article/pii/S2352304223003392?via%3Dihub
identifier_str_mv 23523042
url https://hdl.handle.net/20.500.12442/14702
https://doi.org/10.1016/j.gendis.2023.06.027
https://www.sciencedirect.com/science/article/pii/S2352304223003392?via%3Dihub
dc.language.iso.none.fl_str_mv eng
language eng
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dc.format.mimetype.none.fl_str_mv pdf
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.eng.fl_str_mv Genes & Diseases
dc.source.none.fl_str_mv Vol. 11 No. 4, (2024)
institution Universidad Simón Bolívar
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spelling Garavito-De Egea, Gloriab9d10e4e-0b5f-45a4-ad43-4d21138a1fb8-1Domínguez-Vargas, Alexd3599d9a-0024-4ac5-9bfb-269da6854041-1Vélez, Jorge I.83044e45-79cc-4eec-a9cc-72bf4514e76b-1Aroca, Gustavoe6bdfa35-1a1c-42aa-aee3-89159433d484-1Fang, Luis3961d770-1b6f-4b7f-8d1f-0697a762197b-1Navarro-Quiroz, Elkinb7f1ab18-ac07-40cf-9df1-f25f0c54e259-1Espitaleta, Zilac444ae19d-81a9-4686-821f-ce6dc31b4fa9-1Del Toro-Camargo, Kenny3636f17e-1319-4985-8f79-3ba6bf54d418-1Martínez-Ariza, Leticia420de846-86f6-4b86-9169-663e5ea0ea46-1González-Vargas, Tatiana08257016-23b2-4a58-bbd6-4062d2f7ce5c-1García, Susana2d847251-d27e-4040-81c6-f75c3e3f4c9d-1Arcos-Burgos, Mauriciob0eeb625-a6f6-4508-8925-309b5f765a14-12024-05-30T19:48:12Z2024-05-30T19:48:12Z202423523042https://hdl.handle.net/20.500.12442/14702https://doi.org/10.1016/j.gendis.2023.06.027https://www.sciencedirect.com/science/article/pii/S2352304223003392?via%3DihubIn summary, our study outlines oligogenic common variation underpinning the susceptibility to develop T1D. These genetic polymorphisms are also shared by patients suffering from other diseases such as LN and JIA, indicating that the shared genetic architecture defined by pleiotropy and epistasis shapes the genetic susceptibility of these disorders in this multiethnic population. Given the predicted functional nature of these genetic variants, it is very likely that in this understudied multiethnic population, genes harboring these mutations are major contributors to AID immunopathology and provide new insights into the autoimmune tautology in this group of diseases.pdfengElsevierAttribution-NonCommercial-NoDerivs 3.0 United Stateshttp://creativecommons.org/licenses/by-nc-nd/3.0/us/info:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2Genes & DiseasesVol. 11 No. 4, (2024)Common interacting genetic variation shapes susceptibility to type 1 diabetes in a Colombian Caribbean community: In search of shared genetic markersinfo:eu-repo/semantics/articleArtículo científicohttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_2df8fbb1Lettre G, Rioux JD. Autoimmune diseases: insights from genome-wide association studies. Hum Mol Genet. 2008;17(R2): R116eR121.Zhernakova A, van Diemen CC, Wijmenga C. Detecting shared pathogenesis from the shared genetics of immune-related diseases. Nat Rev Genet. 2009;10(1):43e55.Cotsapas C, Voight BF, Rossin E, et al. Pervasive sharing of genetic effects in autoimmune disease. PLoS Genet. 2011;7(8): e1002254.Caliskan M, Brown CD, Maranville JC. A catalog of GWAS finemapping efforts in autoimmune disease. Am J Hum Genet. 2021; 108(4):549e563.Vélez JI, Lopera F, Silva CT, et al. Familial Alzheimer’s disease and recessive modifiers. Mol Neurobiol. 2020;57(2):1035e1043.ORIGINALPDF.pdfPDF.pdfapplication/pdf461150https://bonga.unisimon.edu.co/bitstreams/c2ebe862-2fc7-4384-9469-d1bcfe597136/downloadc0c8a345678a2417921c265424ce1533MD51LICENSElicense.txtlicense.txttext/plain; charset=utf-8381https://bonga.unisimon.edu.co/bitstreams/b9fb17f1-44b5-48a7-b3fd-19474f06a4ee/download733bec43a0bf5ade4d97db708e29b185MD52CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-8905https://bonga.unisimon.edu.co/bitstreams/f76b5a77-c478-4b53-ab53-0f1a7b860e8b/download2f656a26de8af8c32aaacd5e2a33538cMD53TEXTPDF.txtPDF.txtExtracted texttext/plain14641https://bonga.unisimon.edu.co/bitstreams/e0ae455f-98b3-47d1-a711-25952643dfd7/downloade9161babbecb64edef72c047b594cd4fMD54PDF.pdf.txtPDF.pdf.txtExtracted texttext/plain14641https://bonga.unisimon.edu.co/bitstreams/0aabb5ae-24e1-41b9-a3de-0b106d03a6bc/downloade9161babbecb64edef72c047b594cd4fMD56THUMBNAILPDF.jpgPDF.jpgGenerated Thumbnailimage/jpeg6959https://bonga.unisimon.edu.co/bitstreams/048560a8-3d81-4c91-b979-c1c0814a007d/download515e71a95d1d8ccae99eded330079f74MD55PDF.pdf.jpgPDF.pdf.jpgGenerated Thumbnailimage/jpeg6959https://bonga.unisimon.edu.co/bitstreams/af7f2721-6a6c-4670-97fc-d0ab013e89f2/download515e71a95d1d8ccae99eded330079f74MD5720.500.12442/14702oai:bonga.unisimon.edu.co:20.500.12442/147022024-08-14 21:54:38.412http://creativecommons.org/licenses/by-nc-nd/3.0/us/Attribution-NonCommercial-NoDerivs 3.0 United Statesopen.accesshttps://bonga.unisimon.edu.coRepositorio Digital Universidad Simón Bolívarrepositorio.digital@unisimon.edu.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