Genetic Background and Climatic Droplet Keratopathy Incidence in a Mapuche Population from Argentina
- Autores
- Schurr, Theodore G.; Dulik, Matthew C.; Cafaro, Thamara Analia; Suarez, Maria Fernanda; Urrets-Zavalia, Julio A.; Serra, Horacio Marcelo
- Año de publicación
- 2013
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- Purpose To determine whether the incidence of and susceptibility to climatic droplet keratopathy (CDK), an acquired, often bilateral degenerative corneal disease, is influenced by the genetic background of the individuals who exhibit the disorder. Methods To determine whether the disease expression was influenced by the genetic ancestry of CDK cases in native Mapuche of the northwest area of Patagonia in Argentina, we examined mitochondrial DNA and Y-chromosome variation in 53 unrelated individuals. Twenty-nine of them were part of the CDK (patient) population, while 24 were part of the control group. The analysis revealed the maternal and paternal lineages that were present in the two study groups. Results This analysis demonstrated that nearly all persons had a Native American mtDNA background, whereas 50% of the CDK group and 37% of the control group had Native American paternal ancestry, respectively. There was no significant difference in the frequencies of mtDNA haplogroups between the CDK patient and control groups. Although the Y-chromosome data revealed differences in specific haplogroup frequencies between these two groups, there was no statistically significant relationship between individual paternal genetic backgrounds and the incidence or stage of disease. Conclusions These results indicate a lack of correlation between genetic ancestry as represented by haploid genetic systems and the incidence of CDK in Mapuche populations. In addition, the mtDNA appears to play less of a role in CDK expression than for other complex diseases linked to bioenergetic processes. However, further analysis of the mtDNA genome sequence and other genes involved in corneal function may reveal the more precise role that mitochondria play in the expression of CDK.
Fil: Schurr, Theodore G.. University Of Pennsylvania. Penn Museum Of Archaeology And Anthropology; United State of America;
Fil: Dulik, Matthew C.. University Of Pennsylvania. Penn Museum Of Archaeology And Anthropology; United State of America;
Fil: Cafaro, Thamara Analia. Consejo Nacional de Investigaciones Científicas y Técnicas.Centro Científico Tecnológico - CONICET - Cordoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentina;
Fil: Suarez, Maria Fernanda. Consejo Nacional de Investigaciones Científicas y Técnicas.Centro Científico Tecnológico - CONICET - Cordoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentina;
Fil: Urrets-Zavalia, Julio A.. Universidad Catolica de Cordoba. Facultad de Medicina. Clinica Universitaria Reina Fabiola. Dto de Oftalmologia;
Fil: Serra, Horacio Marcelo. Consejo Nacional de Investigaciones Científicas y Técnicas.Centro Científico Tecnológico - CONICET - Cordoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentina; - Materia
-
CDK
CORNEA
MAPUCHE - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
- Repositorio
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/593
Ver los metadatos del registro completo
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CONICET Digital (CONICET) |
spelling |
Genetic Background and Climatic Droplet Keratopathy Incidence in a Mapuche Population from ArgentinaSchurr, Theodore G.Dulik, Matthew C.Cafaro, Thamara AnaliaSuarez, Maria FernandaUrrets-Zavalia, Julio A.Serra, Horacio MarceloCDKCORNEAMAPUCHEhttps://purl.org/becyt/ford/3https://purl.org/becyt/ford/3.3Purpose To determine whether the incidence of and susceptibility to climatic droplet keratopathy (CDK), an acquired, often bilateral degenerative corneal disease, is influenced by the genetic background of the individuals who exhibit the disorder. Methods To determine whether the disease expression was influenced by the genetic ancestry of CDK cases in native Mapuche of the northwest area of Patagonia in Argentina, we examined mitochondrial DNA and Y-chromosome variation in 53 unrelated individuals. Twenty-nine of them were part of the CDK (patient) population, while 24 were part of the control group. The analysis revealed the maternal and paternal lineages that were present in the two study groups. Results This analysis demonstrated that nearly all persons had a Native American mtDNA background, whereas 50% of the CDK group and 37% of the control group had Native American paternal ancestry, respectively. There was no significant difference in the frequencies of mtDNA haplogroups between the CDK patient and control groups. Although the Y-chromosome data revealed differences in specific haplogroup frequencies between these two groups, there was no statistically significant relationship between individual paternal genetic backgrounds and the incidence or stage of disease. Conclusions These results indicate a lack of correlation between genetic ancestry as represented by haploid genetic systems and the incidence of CDK in Mapuche populations. In addition, the mtDNA appears to play less of a role in CDK expression than for other complex diseases linked to bioenergetic processes. However, further analysis of the mtDNA genome sequence and other genes involved in corneal function may reveal the more precise role that mitochondria play in the expression of CDK.Fil: Schurr, Theodore G.. University Of Pennsylvania. Penn Museum Of Archaeology And Anthropology; United State of America;Fil: Dulik, Matthew C.. University Of Pennsylvania. Penn Museum Of Archaeology And Anthropology; United State of America;Fil: Cafaro, Thamara Analia. Consejo Nacional de Investigaciones Científicas y Técnicas.Centro Científico Tecnológico - CONICET - Cordoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentina;Fil: Suarez, Maria Fernanda. Consejo Nacional de Investigaciones Científicas y Técnicas.Centro Científico Tecnológico - CONICET - Cordoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentina;Fil: Urrets-Zavalia, Julio A.. Universidad Catolica de Cordoba. Facultad de Medicina. Clinica Universitaria Reina Fabiola. Dto de Oftalmologia;Fil: Serra, Horacio Marcelo. Consejo Nacional de Investigaciones Científicas y Técnicas.Centro Científico Tecnológico - CONICET - Cordoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentina;Public Library Science2013-09info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/593Schurr, Theodore G.; Dulik, Matthew C.; Cafaro, Thamara Analia; Suarez, Maria Fernanda; Urrets-Zavalia, Julio A.; Serra, Horacio Marcelo; GENETIC BACKGROUND AND CLIMATIC DROPLET KERATOPATHY INCIDENCE IN A MAPUCHE POPULATION FROM ARGENTINA; Public Library Science; Plos One; 8; 9; 9-2013; e74593;1932-6203enginfo:eu-repo/semantics/altIdentifier/doi/10.1371/journal.pone.0074593info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:29:08Zoai:ri.conicet.gov.ar:11336/593instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 10:29:08.815CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
dc.title.none.fl_str_mv |
Genetic Background and Climatic Droplet Keratopathy Incidence in a Mapuche Population from Argentina |
title |
Genetic Background and Climatic Droplet Keratopathy Incidence in a Mapuche Population from Argentina |
spellingShingle |
Genetic Background and Climatic Droplet Keratopathy Incidence in a Mapuche Population from Argentina Schurr, Theodore G. CDK CORNEA MAPUCHE |
title_short |
Genetic Background and Climatic Droplet Keratopathy Incidence in a Mapuche Population from Argentina |
title_full |
Genetic Background and Climatic Droplet Keratopathy Incidence in a Mapuche Population from Argentina |
title_fullStr |
Genetic Background and Climatic Droplet Keratopathy Incidence in a Mapuche Population from Argentina |
title_full_unstemmed |
Genetic Background and Climatic Droplet Keratopathy Incidence in a Mapuche Population from Argentina |
title_sort |
Genetic Background and Climatic Droplet Keratopathy Incidence in a Mapuche Population from Argentina |
dc.creator.none.fl_str_mv |
Schurr, Theodore G. Dulik, Matthew C. Cafaro, Thamara Analia Suarez, Maria Fernanda Urrets-Zavalia, Julio A. Serra, Horacio Marcelo |
author |
Schurr, Theodore G. |
author_facet |
Schurr, Theodore G. Dulik, Matthew C. Cafaro, Thamara Analia Suarez, Maria Fernanda Urrets-Zavalia, Julio A. Serra, Horacio Marcelo |
author_role |
author |
author2 |
Dulik, Matthew C. Cafaro, Thamara Analia Suarez, Maria Fernanda Urrets-Zavalia, Julio A. Serra, Horacio Marcelo |
author2_role |
author author author author author |
dc.subject.none.fl_str_mv |
CDK CORNEA MAPUCHE |
topic |
CDK CORNEA MAPUCHE |
purl_subject.fl_str_mv |
https://purl.org/becyt/ford/3 https://purl.org/becyt/ford/3.3 |
dc.description.none.fl_txt_mv |
Purpose To determine whether the incidence of and susceptibility to climatic droplet keratopathy (CDK), an acquired, often bilateral degenerative corneal disease, is influenced by the genetic background of the individuals who exhibit the disorder. Methods To determine whether the disease expression was influenced by the genetic ancestry of CDK cases in native Mapuche of the northwest area of Patagonia in Argentina, we examined mitochondrial DNA and Y-chromosome variation in 53 unrelated individuals. Twenty-nine of them were part of the CDK (patient) population, while 24 were part of the control group. The analysis revealed the maternal and paternal lineages that were present in the two study groups. Results This analysis demonstrated that nearly all persons had a Native American mtDNA background, whereas 50% of the CDK group and 37% of the control group had Native American paternal ancestry, respectively. There was no significant difference in the frequencies of mtDNA haplogroups between the CDK patient and control groups. Although the Y-chromosome data revealed differences in specific haplogroup frequencies between these two groups, there was no statistically significant relationship between individual paternal genetic backgrounds and the incidence or stage of disease. Conclusions These results indicate a lack of correlation between genetic ancestry as represented by haploid genetic systems and the incidence of CDK in Mapuche populations. In addition, the mtDNA appears to play less of a role in CDK expression than for other complex diseases linked to bioenergetic processes. However, further analysis of the mtDNA genome sequence and other genes involved in corneal function may reveal the more precise role that mitochondria play in the expression of CDK. Fil: Schurr, Theodore G.. University Of Pennsylvania. Penn Museum Of Archaeology And Anthropology; United State of America; Fil: Dulik, Matthew C.. University Of Pennsylvania. Penn Museum Of Archaeology And Anthropology; United State of America; Fil: Cafaro, Thamara Analia. Consejo Nacional de Investigaciones Científicas y Técnicas.Centro Científico Tecnológico - CONICET - Cordoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentina; Fil: Suarez, Maria Fernanda. Consejo Nacional de Investigaciones Científicas y Técnicas.Centro Científico Tecnológico - CONICET - Cordoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentina; Fil: Urrets-Zavalia, Julio A.. Universidad Catolica de Cordoba. Facultad de Medicina. Clinica Universitaria Reina Fabiola. Dto de Oftalmologia; Fil: Serra, Horacio Marcelo. Consejo Nacional de Investigaciones Científicas y Técnicas.Centro Científico Tecnológico - CONICET - Cordoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentina; |
description |
Purpose To determine whether the incidence of and susceptibility to climatic droplet keratopathy (CDK), an acquired, often bilateral degenerative corneal disease, is influenced by the genetic background of the individuals who exhibit the disorder. Methods To determine whether the disease expression was influenced by the genetic ancestry of CDK cases in native Mapuche of the northwest area of Patagonia in Argentina, we examined mitochondrial DNA and Y-chromosome variation in 53 unrelated individuals. Twenty-nine of them were part of the CDK (patient) population, while 24 were part of the control group. The analysis revealed the maternal and paternal lineages that were present in the two study groups. Results This analysis demonstrated that nearly all persons had a Native American mtDNA background, whereas 50% of the CDK group and 37% of the control group had Native American paternal ancestry, respectively. There was no significant difference in the frequencies of mtDNA haplogroups between the CDK patient and control groups. Although the Y-chromosome data revealed differences in specific haplogroup frequencies between these two groups, there was no statistically significant relationship between individual paternal genetic backgrounds and the incidence or stage of disease. Conclusions These results indicate a lack of correlation between genetic ancestry as represented by haploid genetic systems and the incidence of CDK in Mapuche populations. In addition, the mtDNA appears to play less of a role in CDK expression than for other complex diseases linked to bioenergetic processes. However, further analysis of the mtDNA genome sequence and other genes involved in corneal function may reveal the more precise role that mitochondria play in the expression of CDK. |
publishDate |
2013 |
dc.date.none.fl_str_mv |
2013-09 |
dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
format |
article |
status_str |
publishedVersion |
dc.identifier.none.fl_str_mv |
http://hdl.handle.net/11336/593 Schurr, Theodore G.; Dulik, Matthew C.; Cafaro, Thamara Analia; Suarez, Maria Fernanda; Urrets-Zavalia, Julio A.; Serra, Horacio Marcelo; GENETIC BACKGROUND AND CLIMATIC DROPLET KERATOPATHY INCIDENCE IN A MAPUCHE POPULATION FROM ARGENTINA; Public Library Science; Plos One; 8; 9; 9-2013; e74593; 1932-6203 |
url |
http://hdl.handle.net/11336/593 |
identifier_str_mv |
Schurr, Theodore G.; Dulik, Matthew C.; Cafaro, Thamara Analia; Suarez, Maria Fernanda; Urrets-Zavalia, Julio A.; Serra, Horacio Marcelo; GENETIC BACKGROUND AND CLIMATIC DROPLET KERATOPATHY INCIDENCE IN A MAPUCHE POPULATION FROM ARGENTINA; Public Library Science; Plos One; 8; 9; 9-2013; e74593; 1932-6203 |
dc.language.none.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
info:eu-repo/semantics/altIdentifier/doi/10.1371/journal.pone.0074593 |
dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
eu_rights_str_mv |
openAccess |
rights_invalid_str_mv |
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
dc.format.none.fl_str_mv |
application/pdf application/pdf |
dc.publisher.none.fl_str_mv |
Public Library Science |
publisher.none.fl_str_mv |
Public Library Science |
dc.source.none.fl_str_mv |
reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas |
reponame_str |
CONICET Digital (CONICET) |
collection |
CONICET Digital (CONICET) |
instname_str |
Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.name.fl_str_mv |
CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.mail.fl_str_mv |
dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
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1844614296850399232 |
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13.070432 |