The online version of this article (doi:10.1186/s12905-015-0171-8) contains supplementary material, which is available to authorized users.
The authors declare that they have no competing interests.
CB, BB, PCH, NA, MS and RAK designed the study. BB, NA and MS coordinated volunteer recruitment, laboratory and data analyses in Uruguay. RAK oversaw laboratory analyses in USA. EA, IB, PC, AE, SiH and ER participated in volunteer recruitment and interviewing, and data entering. EA, PC, MC, GF, SiH, StH and ER carried out laboratory assays. CB, BB, PCH and MS analyzed the data. CB wrote the manuscript with contributions from BB, PCH, NA, AE, MS and RAK. All authors read and approved the final manuscript.
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.
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.
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).
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.
Additional file 1: Table S1. Ancestry informative markers (AIMs) used in the estimation of ancestral contributions to Uruguayan women. Table S2: Primers and restriction sites used for mitochondrial DNA haplogroup assignment. Table S3: Potential confounders and nuclear individual ancestry in Uruguayan controls. Table S4: Association of ancestry informative markers with breast cancer risk (Cochran-Armitage test). Table S5: Association of ancestry informative markers with breast cancer risk (logistic regression). Table S6: Potential confounders and mitochondrial DNA ancestry in Uruguayan controls.12905_2015_171_MOESM1_ESM.docx
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- Breast cancer risk and genetic ancestry: a case–control study in Uruguay
Pedro C Hidalgo
Rick A Kittles
- BioMed Central
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