Self-reported skin color, genomic ancestry and the distribution of GST polymorphisms

Suarez‐Kurtz, Guilherme; Vargens, Daniela D.; Struchiner, Cláudio J.; Bastos‐Rodrigues, Luciana; Pena, Sérgio Danilo Junho

doi:10.1097/fpc.0b013e3281c10e52

Cited by 69 publications

(70 citation statements)

References 18 publications

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“…Methods that determine genetic ancestry using patient genotype data reflect differences in allele frequencies significantly more accurately. 4,16,34 Preferably, these methods should be fast and easy to use even on large datasets without the need for Figure 3 Scatter plot of PC1 and PC2 of GATC samples with self-reported geographic origin from Canada. PCA shows that the genetic structure of most of these individuals is similar to Europeans.…”

Section: Discussionmentioning

confidence: 99%

“…It is vital to control for the genetic ancestry of each sample. However, commonly used ethnic labels are often insufficient and inaccurate proxies of genetic ancestry especially in populations with extensive admixture 16 and some individuals do not know or wrongly assume their ethnicity. It is therefore imperative to apply other methods to determine genetic ancestry.…”

Section: Introductionmentioning

confidence: 99%

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Application of principal component analysis to pharmacogenomic studies in Canada

et al. 2009

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Ethnicity can confound results in pharmacogenomic studies. Allele frequencies of loci that influence drug metabolism can vary substantially between different ethnicities and underlying ancestral genetic differences can lead to spurious findings in pharmacogenomic association studies. We evaluated the application of principal component analysis (PCA) in a pharmacogenomic study in Canada to detect and correct for genetic ancestry differences using genotype data from 2094 loci in 220 key drug biotransformation genes. Using 89 Coriell worldwide reference samples, we observed a strong correlation between principal component values and geographic origin. We further applied PCA to accurately infer the genetic ancestry in our ethnically diverse Canadian cohort of 524 patients from the GATC study of severe adverse drug reactions. We show that PCA can be successfully applied in pharmacogenomic studies using a limited set of markers to detect underlying differences in genetic ancestry thereby maximizing power and minimizing false-positive findings.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Application of principal component analysis to pharmacogenomic studies in Canada

et al. 2009

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“…By default, genetic studies of US population samples categorize individuals as European American, African American, Hispanic, or Asian (42,51,74,94,105). In Ibero-America, such categorization of research subjects is not standard, but studies of this type have been performed for some urban population samples (particularly in Brazil) (70,72,93,101) and for certain historic isolates (e.g., African-derived Brazilian Quilombos) (79). Studies in Ibero-America use the terms "white" and "black" as ancestry equivalents to the European American and African American categories used in the United States, we therefore focused on a comparison of these two categories across the continent.…”

Section: Genetic Ancestry In European Americans and African Americansmentioning

confidence: 99%

The Genetic Diversity of the Americas

Adhikari

Chacón-Duque

Mendoza‐Revilla

et al. 2017

Annu. Rev. Genom. Hum. Genet.

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The history of the Americas involved the encounter of millions of Native Americans, Europeans, and Africans. A variable admixture of these three continental groups has taken place between them throughout the continent, influenced by demography and a range of social factors. These events have had a major influence on the genetic makeup of populations across the continent. Here, we summarize the demographic history of the region, highlight some social factors that affected historical admixture, and review major patterns of diversity across the Western Hemisphere based on genetic data.2

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“…However, stratification based on skin color does not reflect actual ancestral genetic contribution Pimenta et al, 2006;Suarez-Kurtz et al, 2007;Santos et al, 2009;Beuten et al, 2011;Lins et al, 2011;Pena et al, 2009Pena et al, , 2011. For instance, in Brazil, skin pigmentation correlates poorly with African ancestry .…”

Section: Introductionmentioning

confidence: 99%

Self-declared ethnicity and genomic ancestry in prostate cancer patients from Brazil

et al. 2016

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ABSTRACT. Some studies of polymorphisms in prostate cancer (PCa) analyze individuals in a uniform manner, regardless of genetic ancestry. However, PCa aggressiveness differs between subjects of African descent and those of European extraction. Thus, genetic ancestry analysis may be used to detect population stratification in case-control association studies. We genotyped 11 ancestry informative markers to estimate the contributions of African, European, and Amerindian ancestries in a case-control sample of 213 individuals from Bahia State, Northeast Brazil, including 104 PCa patients. We compared this data with self-reported ancestry and the stratification of cases by PCa aggressiveness according to Gleason score. A larger African genetic contribution (44%) was detected among cases, and a greater European contribution (61%) among controls. Self-declaration data revealed that 74% of PCa patients considered themselves non-white (black and brown), and 41.3% of controls viewed themselves as white. Our data showed a higher degree of European ancestry among fast-growing cancer cases than those of intermediate and slow development. This differs from many previous studies, in which the prevalence of African ancestry has been reported for all grades. Differences were observed between degrees of PCa aggressiveness in terms of genetic ancestry. In particular, the greater European contribution among patients with highgrade PCa indicates that a population's genetic structure can influence case-control studies. This investigation contributes to our understanding of the genetic basis of tumor aggressiveness among groups of different genetic ancestries, especially admixed populations, and has significant implications for the assessment of inter-population heterogeneity in drug treatment effects.

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Self-reported skin color, genomic ancestry and the distribution of GST polymorphisms

Cited by 69 publications

References 18 publications

Application of principal component analysis to pharmacogenomic studies in Canada

Application of principal component analysis to pharmacogenomic studies in Canada

The Genetic Diversity of the Americas

Self-declared ethnicity and genomic ancestry in prostate cancer patients from Brazil

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