Genomic ancestry evaluated by ancestry-informative markers in patients with sickle cell disease

Nascimento, A.F.; Oliveira, J.S.; Silva, Juvenal Cordeiro; Barbosa, Ana Angélica Leal

doi:10.4238/gmr.15017604

Cited by 3 publications

(9 citation statements)

References 12 publications

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“…31 Chronic heart failureOpen Hearttransversal362General 61% White 80% Brown 58% Black 32%General 29% White12% Brown 31% Black 61% General 6% White 8% Brown 11% Black 7%Nascimento et al . 32 Sickle cell diseaseGenetics and Molecular Researchtransversal20 44% 42%11%Rolim et al . 33 PCG e Journal Glaucomacase-control90 case 78.4% control 73.0%case 14.9% control 13.2%case 6.7% control 13.8%Ramos et al .…”

Section: Resultsmentioning

confidence: 99%

“…31 362Chronic heart failureSoutheastSNPs101 3482016Nascimento et al . 32 20Sickle cell diseaseNortheastSNPs82016Rolim et al . 33 90PCG f SoutheastINDELs402016Ramos et al .…”

Section: Resultsmentioning

confidence: 99%

“…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.…”

Section: Resultsmentioning

confidence: 99%

“…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. It should be noted that 30.76% of the selected studies were pioneer investigations in applying the AIM methodology for Brazilian populations, comprising the following outcomes: HF, a major morbidity and mortality cause worldwide, with a significant impact on health systems 31 ; NMO and MS, rare demyelinating neurological diseases affecting the central nervous system 25 ; PTL and PPROM, which contribute significantly to neonatal mortality and morbidity worldwide 36 , and primary PCG, a rare disease which is a major cause of blindness 33 .…”

Section: Resultsmentioning

confidence: 99%

“…30.76% of the studies, in malaria 29 , NMO and MS cases 25 , and for patients presenting PCa 30 and SLE 24 . The other studies chose either INDELs 27,33,35,36 ; SNPs 26,31,32,34 or STRs 28 . No study applied mtDNA or NRY markers to investigate ancestry contributions.…”

Section: Resultsmentioning

confidence: 99%

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

Pereira

Guimarães

Lucidi

et al. 2019

Sci Rep

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The variables such as race, skin colour and ethnicity have become intensely discussed in medicine research, as a response to the rising debate over the importance of the ethnic-racial dimension in the scope of health-disease processes. The aim of this study was to identify the European (EUR), African (AFR) and Amerindian (AMR) ancestries on Brazilian health outcomes through a systematic literature review. This study was carried out by searching in three electronic databases, for studies published between 2005 and 2017. A total of 13 papers were eligible. The search identified the following health outcomes: visceral leishmaniosis, malaria, Alzheimer’s disease, neuromyelitis optica, multiple sclerosis, prostate cancer, non-syndromic cleft lip/palate, chronic heart failure, sickle cell disease, primary congenital glaucoma, preterm labour, preterm premature rupture of membranes, systemic lupus erythematosus and type 1 diabetes mellitus. Research paper assessments were guided by the STROBE instrument, and agreements between results were determined by comparing the points attributed by two authors. Increased EUR ancestry was identified from preterm labour (PTL), type 1 diabetes (T1D) and non-syndromic cleft lip with or without cleft palate (NSCL), as well as in patients presenting aggressive prostate cancer prognoses. On the other hand, the highest AFR ancestral component was verified from systemic lupus erythematosus (SLE) and primary congenital glaucoma (PCG) cases, presenting worse prognoses. AMR ancestry may be a protective factor in the development of Alzheimer’s disease (AD). The worst hemodynamic parameters in cases of heart failure (HF) were identified among individuals with greater AMR and AFR ancestry indices.

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Section: Resultsmentioning

confidence: 99%

“…31 362Chronic heart failureSoutheastSNPs101 3482016Nascimento et al . 32 20Sickle cell diseaseNortheastSNPs82016Rolim et al . 33 90PCG f SoutheastINDELs402016Ramos et al .…”

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

See 3 more Smart Citations

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

Pereira

Guimarães

Lucidi

et al. 2019

Sci Rep

View full text Add to dashboard Cite

show abstract

A systematic scoping review of the genetic ancestry of the Brazilian population

et al. 2019

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The genetic background of the Brazilian population is mainly characterized by three parental populations: European, African, and Native American. The aim of this study was to overview the genetic ancestry estimates for different Brazilian geographic regions and analyze factors involved in these estimates. In this systematic scoping review were included 51 studies, comprehending 81 populations of 19 states from five regions of Brazil. To reduce the potential of bias from studies with different sampling methods, we calculated the mean genetic ancestry weighted by the number of individuals. The weighted mean proportions of European, African, and Native American ancestries were 68.1%, 19.6%, and 11.6%, respectively. At the regional level, the highest European contribution occurred in the South, while the highest African and Native American contributions occurred in the Northeastern and Northern regions, respectively. Among states in the Northeast region, Bahia and Ceará showed significant differences, suggesting distinct demographic histories. This review contributes for a broader understanding of the Brazilian ancestry and indicates that the ancestry estimates are influenced by the type of molecular marker and the sampling method.

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CCR5Δ32 in Brazil: Impacts of a European Genetic Variant on a Highly Admixed Population

Kulmann-Leal

Ellwanger

2021

Front. Immunol.

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The genetic background of Brazilians encompasses Amerindian, African, and European components as a result of the colonization of an already Amerindian inhabited region by Europeans, associated to a massive influx of Africans. Other migratory flows introduced into the Brazilian population genetic components from Asia and the Middle East. Currently, Brazil has a highly admixed population and, therefore, the study of genetic factors in the context of health or disease in Brazil is a challenging and remarkably interesting subject. This phenomenon is exemplified by the genetic variant CCR5Δ32, a 32 base-pair deletion in the CCR5 gene. CCR5Δ32 originated in Europe, but the time of origin as well as the selective pressures that allowed the maintenance of this variant and the establishment of its current frequencies in the different human populations is still a field of debates. Due to its origin, the CCR5Δ32 allele frequency is high in European-derived populations (~10%) and low in Asian and African native human populations. In Brazil, the CCR5Δ32 allele frequency is intermediate (4-6%) and varies on the Brazilian States, depending on the migratory history of each region. CCR5 is a protein that regulates the activity of several immune cells, also acting as the main HIV-1 co-receptor. The CCR5 expression is influenced by CCR5Δ32 genotypes. No CCR5 expression is observed in CCR5Δ32 homozygous individuals. Thus, the CCR5Δ32 has particular effects on different diseases. At the population level, the effect that CCR5Δ32 has on European populations may be different than that observed in highly admixed populations. Besides less evident due to its low frequency in admixed groups, the effect of the CCR5Δ32 variant may be affected by other genetic traits. Understanding the effects of CCR5Δ32 on Brazilians is essential to predict the potential use of pharmacological CCR5 modulators in Brazil. Therefore, this study reviews the impacts of the CCR5Δ32 on the Brazilian population, considering infectious diseases, inflammatory conditions, and cancer. Finally, this article provides a general discussion concerning the impacts of a European-derived variant, the CCR5Δ32, on a highly admixed population.

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Genomic ancestry evaluated by ancestry-informative markers in patients with sickle cell disease

Cited by 3 publications

References 12 publications

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

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

A systematic scoping review of the genetic ancestry of the Brazilian population

CCR5Δ32 in Brazil: Impacts of a European Genetic Variant on a Highly Admixed Population

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