Breast cancer risk and genetic ancestry: a case-control study in Uruguay

Persistent Link:
http://hdl.handle.net/10150/610306
Title:
Breast cancer risk and genetic ancestry: a case-control study in Uruguay
Author:
Bonilla, Carolina; Bertoni, Bernardo; Hidalgo, Pedro C.; Artagaveytia, Nora; Ackermann, Elizabeth; Barreto, Isabel; Cancela, Paula; Cappetta, Mónica; Egaña, Ana; Figueiro, Gonzalo; Heinzen, Silvina; Hooker, Stanley; Román, Estela; Sans, Mónica; Kittles, Rick A.
Affiliation:
School of Social and Community Medicine, University of Bristol; Departamento de Genética, Facultad de Medicina, Universidad del la República; Polo de Desarrollo Universitario “Variabilidad Genética Humana”, Centro Universitario de Tacuarembó, Universidad de la República; Departamento Básico de Medicina, Hospital de Clínicas, Facultad de Medicina, Universidad de la República; Laboratorio de Oncología Básica y Biología Molecular (LOBBM), Facultad de Medicina, Universidad de la República; Departamento de Antropología Biológica, Instituto de Ciencias Antropológicas, Facultad de Humanidades y Ciencias de la Educación, Universidad de la República; Polo de Desarrollo Universitario “Centro de investigaciones interdisciplinarias sobre la presencia indígena misionera en el territorio: patrimonio, región y fronteras culturales”, Centro Universitario de Tacuarembó, Universidad de la República; Unidad Académica de la Licenciatura en Biología Humana, Centro Universitario de Paysandú, Universidad de la República; Section of Genetic Medicine, Department of Medicine, Pritzker School of Medicine, University of Chicago; Department of Molecular and Human Genetics, Baylor College of Medicine; Department of Medicine, Section of Hematology and Oncology, University of Illinois at Chicago; Center for Population Genetics, The University of Arizona College of Medicine
Issue Date:
2015
Publisher:
BioMed Central Ltd
Citation:
Bonilla et al. BMC Women's Health (2015) 15:11 DOI 10.1186/s12905-015-0171-8
Journal:
BMC Women's Health
Rights:
© 2015 Bonilla et al.; licensee BioMed Central. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0)
Collection Information:
This item is part of the UA Faculty Publications collection. For more information this item or other items in the UA Campus Repository, contact the University of Arizona Libraries at repository@u.library.arizona.edu.
Abstract:
BACKGROUND: Uruguay exhibits one of the highest rates of breast cancer in Latin America, similar to those of developed nations, the reasons for which are not completely understood. In this study we investigated the effect that ancestral background has on breast cancer susceptibility among Uruguayan women. METHODS: We carried out a case-control study of 328 (164 cases, 164 controls) women enrolled in public hospitals and private clinics across the country. We estimated ancestral proportions using a panel of nuclear and mitochondrial ancestry informative markers (AIMs) and tested their association with breast cancer risk. RESULTS: Nuclear individual ancestry in cases was (mean ± SD) 9.8 ± 7.6% African, 13.2 ± 10.2% Native American and 77.1 ± 13.1% European, and in controls 9.1 ± 7.5% African, 14.7 ± 11.2% Native American and 76.2 ± 14.2% European. There was no evidence of a difference in nuclear or mitochondrial ancestry between cases and controls. However, European mitochondrial haplogroup H was associated with breast cancer (OR = 2.0; 95% CI 1.1, 3.5). CONCLUSIONS: We have not found evidence that overall genetic ancestry differs between breast cancer patients and controls in Uruguay but we detected an association of the disease with a European mitochondrial lineage, which warrants further investigation.
EISSN:
1472-6874
DOI:
10.1186/s12905-015-0171-8
Keywords:
Breast cancer; Population admixture; Ancestry informative markers; Mitochondrial haplogroups; Latin America; Uruguay
Version:
Final published version
Additional Links:
http://www.biomedcentral.com/1472-6874/15/11

Full metadata record

DC FieldValue Language
dc.contributor.authorBonilla, Carolinaen
dc.contributor.authorBertoni, Bernardoen
dc.contributor.authorHidalgo, Pedro C.en
dc.contributor.authorArtagaveytia, Noraen
dc.contributor.authorAckermann, Elizabethen
dc.contributor.authorBarreto, Isabelen
dc.contributor.authorCancela, Paulaen
dc.contributor.authorCappetta, Mónicaen
dc.contributor.authorEgaña, Anaen
dc.contributor.authorFigueiro, Gonzaloen
dc.contributor.authorHeinzen, Silvinaen
dc.contributor.authorHooker, Stanleyen
dc.contributor.authorRomán, Estelaen
dc.contributor.authorSans, Mónicaen
dc.contributor.authorKittles, Rick A.en
dc.date.accessioned2016-05-20T09:03:47Z-
dc.date.available2016-05-20T09:03:47Z-
dc.date.issued2015en
dc.identifier.citationBonilla et al. BMC Women's Health (2015) 15:11 DOI 10.1186/s12905-015-0171-8en
dc.identifier.doi10.1186/s12905-015-0171-8en
dc.identifier.urihttp://hdl.handle.net/10150/610306-
dc.description.abstractBACKGROUND: Uruguay exhibits one of the highest rates of breast cancer in Latin America, similar to those of developed nations, the reasons for which are not completely understood. In this study we investigated the effect that ancestral background has on breast cancer susceptibility among Uruguayan women. METHODS: We carried out a case-control study of 328 (164 cases, 164 controls) women enrolled in public hospitals and private clinics across the country. We estimated ancestral proportions using a panel of nuclear and mitochondrial ancestry informative markers (AIMs) and tested their association with breast cancer risk. RESULTS: Nuclear individual ancestry in cases was (mean ± SD) 9.8 ± 7.6% African, 13.2 ± 10.2% Native American and 77.1 ± 13.1% European, and in controls 9.1 ± 7.5% African, 14.7 ± 11.2% Native American and 76.2 ± 14.2% European. There was no evidence of a difference in nuclear or mitochondrial ancestry between cases and controls. However, European mitochondrial haplogroup H was associated with breast cancer (OR = 2.0; 95% CI 1.1, 3.5). CONCLUSIONS: We have not found evidence that overall genetic ancestry differs between breast cancer patients and controls in Uruguay but we detected an association of the disease with a European mitochondrial lineage, which warrants further investigation.en
dc.language.isoenen
dc.publisherBioMed Central Ltden
dc.relation.urlhttp://www.biomedcentral.com/1472-6874/15/11en
dc.rights© 2015 Bonilla et al.; licensee BioMed Central. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0)en
dc.subjectBreast canceren
dc.subjectPopulation admixtureen
dc.subjectAncestry informative markersen
dc.subjectMitochondrial haplogroupsen
dc.subjectLatin Americaen
dc.subjectUruguayen
dc.titleBreast cancer risk and genetic ancestry: a case-control study in Uruguayen
dc.typeArticleen
dc.identifier.eissn1472-6874en
dc.contributor.departmentSchool of Social and Community Medicine, University of Bristolen
dc.contributor.departmentDepartamento de Genética, Facultad de Medicina, Universidad del la Repúblicaen
dc.contributor.departmentPolo de Desarrollo Universitario “Variabilidad Genética Humana”, Centro Universitario de Tacuarembó, Universidad de la Repúblicaen
dc.contributor.departmentDepartamento Básico de Medicina, Hospital de Clínicas, Facultad de Medicina, Universidad de la Repúblicaen
dc.contributor.departmentLaboratorio de Oncología Básica y Biología Molecular (LOBBM), Facultad de Medicina, Universidad de la Repúblicaen
dc.contributor.departmentDepartamento de Antropología Biológica, Instituto de Ciencias Antropológicas, Facultad de Humanidades y Ciencias de la Educación, Universidad de la Repúblicaen
dc.contributor.departmentPolo de Desarrollo Universitario “Centro de investigaciones interdisciplinarias sobre la presencia indígena misionera en el territorio: patrimonio, región y fronteras culturales”, Centro Universitario de Tacuarembó, Universidad de la Repúblicaen
dc.contributor.departmentUnidad Académica de la Licenciatura en Biología Humana, Centro Universitario de Paysandú, Universidad de la Repúblicaen
dc.contributor.departmentSection of Genetic Medicine, Department of Medicine, Pritzker School of Medicine, University of Chicagoen
dc.contributor.departmentDepartment of Molecular and Human Genetics, Baylor College of Medicineen
dc.contributor.departmentDepartment of Medicine, Section of Hematology and Oncology, University of Illinois at Chicagoen
dc.contributor.departmentCenter for Population Genetics, The University of Arizona College of Medicineen
dc.identifier.journalBMC Women's Healthen
dc.description.collectioninformationThis item is part of the UA Faculty Publications collection. For more information this item or other items in the UA Campus Repository, contact the University of Arizona Libraries at repository@u.library.arizona.edu.en
dc.eprint.versionFinal published versionen
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