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dc.contributor.author
Schurr, Theodore G.
dc.contributor.author
Dulik, Matthew C.
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Cafaro, Thamara Analia
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Suarez, Maria Fernanda
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Urrets-Zavalia, Julio A.
dc.contributor.author
Serra, Horacio Marcelo
dc.date.available
2015-06-03T19:24:28Z
dc.date.issued
2013-09
dc.identifier.citation
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;
dc.identifier.issn
1932-6203
dc.identifier.uri
http://hdl.handle.net/11336/593
dc.description.abstract
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.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Public Library Science
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Cdk
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Cornea
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Mapuche
dc.subject.classification
Ciencias Médicas y de la Salud
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Ciencias de la Salud
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Otras Ciencias de la Salud
dc.title
Genetic Background and Climatic Droplet Keratopathy Incidence in a Mapuche Population from Argentina
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2016-03-30 10:35:44.97925-03
dc.journal.volume
8
dc.journal.number
9
dc.journal.pagination
e74593
dc.journal.pais
Estados Unidos
dc.journal.ciudad
San Francisco
dc.description.fil
Fil: Schurr, Theodore G.. University Of Pennsylvania. Penn Museum Of Archaeology And Anthropology; United State of America;
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Fil: Dulik, Matthew C.. University Of Pennsylvania. Penn Museum Of Archaeology And Anthropology; United State of America;
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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;
dc.description.fil
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;
dc.description.fil
Fil: Urrets-Zavalia, Julio A.. Universidad Catolica de Cordoba. Facultad de Medicina. Clinica Universitaria Reina Fabiola. Dto de Oftalmologia;
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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;
dc.journal.title
Plos One
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1371/journal.pone.0074593
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