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
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/593

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oai_identifier_str oai:ri.conicet.gov.ar:11336/593
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str 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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