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

Abstract

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.

A systematic literature review on the European, African and Amerindian genetic ancestry components on Brazilian health outcomes

“…25 NMO a and MS b Plos Onecase-control344 NMO 68.7% MS 78.5% NMO 20.5% MS 12.5%NMO 10.8% MS 9%Oliveira et al . 30 Prostate CancerGenetics and Molecular Researchcase-control213 case 46% control 61%case 44% control 33%case 10% control 6%Messetti et al . 35 Non-syndromic cleft lipJournal Oral Pathol Medcase-control1478 NSCL c ± P 82.0% NSCPO d 76.4% Control 84.3%NSCL ± P 16.2% NSCPO 21.4% Control 14.0%NSCL ± P 1.8% NSCPO 2.2% Control 1.7%Bernardez-Pereira et al .…”

“…25 344NMO d and MS e Southeast Center-WestNortheastSNPsINDELsAlu122016Oliveira et al . 30 213Prostate CancerNortheastSNPsINDELs112016Messetti et al . 35 1478Non-syndromic cleft lipSouth NortheastINDELs402016Bernardez-Pereira et al .…”

“…All nine clinical specialties discussed ancestry genetic components: three of the 13 studies discussed infectology 27–29 , and two are neurology papers 25,26 . Publications at 1/13 data were autoimmune disease 24 , urology 30 , cardiology 31 , hematology 32 , ophthalmology 33,34 , bucomaxillae 35 , obstetrics 36 . The case-control study design 24,25,27,29,30,33–36 , represented 69.23% of the studies analysed in this review.…”

“…Publications at 1/13 data were autoimmune disease 24 , urology 30 , cardiology 31 , hematology 32 , ophthalmology 33,34 , bucomaxillae 35 , obstetrics 36 . The case-control study design 24,25,27,29,30,33–36 , represented 69.23% of the studies analysed in this review. Cross-sectional designs 28,31,32 and longitudinal studies 26 accounted for 23.07% and 7.69%, respectively.…”

Revisión sobre los marcadores del origen biogeográfico y su aplicación en la investigación forense

“…Existen estudios epidemiológi-cos en los que se ha demostrado que la asignacion geográfica genética es más precisa que la referida por el propio individuo [50,51].…”