Challenges in selecting admixture models and marker sets to infer genetic ancestry in a Brazilian admixed population

Escher, Luciana Maia; Naslavsky, Michel Satya; Scliar, Marília O.; Duarte, Yeda A. O.; Zatz, Mayana; Nunes, Kelly; Oliveira, Silviene Fabiana de

doi:10.1038/s41598-022-25521-7

Cited by 2 publications

(3 citation statements)

References 56 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…35 Understanding how genetic marker sets are assigned to Brazilian genetic ancestry is relevant to historical and public health issues. 35 Large-scale genomic discoveries in mental health and ADRD are heavily biased toward individuals of European ancestry, 36 potentially exacerbating existing health inequities. 37 It is critical to add diversity to GWAS to better understand the generalizability and transferability across GWAS.…”

Section: Research In Contextmentioning

confidence: 99%

“…Furthermore, ancestry may differ across Latinx populations, as individuals across the Caribbean, Mexico, and South America have different profiles of genetic ancestry. For example, a previous report indicated that admixed Brazilian population showed less Indigenous ancestry than several Latinx populations 35 …”

Section: Considerations For Brain Health Equity Research In the Us‐br...mentioning

confidence: 99%

“…For example, a previous report indicated that admixed Brazilian population showed less Indigenous ancestry than several Latinx populations. 35 Understanding how genetic marker sets are assigned to Brazilian genetic ancestry is relevant to historical and public health issues. 35 Large-scale genomic discoveries in mental health and ADRD are heavily biased toward individuals of European ancestry, 36 potentially exacerbating existing health inequities.…”

Section: Research In Contextmentioning

confidence: 99%

See 2 more Smart Citations

The (in)visible Brazilians: A perspective review on the need for brain health and dementia research with Brazilian immigrants in the United States

Simon,

Brucki,

Fonseca

et al. 2023

A&D Transl Res & Clin Interv

View full text Add to dashboard Cite

IntroductionThe Brazilian population in the United States (U.S.), a Latinx subgroup, is rapidly growing and aging but remains underrepresented in U.S. health research. In addition to group‐specific genetic and environmental risks, Brazilian immigrants and their offspring in the U.S. likely have cumulative risks for health inequities.It is estimated that 71% of Brazilian immigrants in the U.S. are undocumented, which may limit healthcare access/utilization. Furthermore, mental health is reported as a health priority by Brazilian immigrants in the U.S., and there is a lack of research on Alzheimer's disease and related dementia (AD/ADRD) in this population.MethodsWe reviewed the scientific literature using traditional (e.g., PubMed) sources and databases generated by U.S. and Brazilian governments, as well as international organizations, and press articles.ResultsThis perspective review lists recommendations for researchers, health providers, and policymakers to promote greater inclusion of U.S. Brazilian populations in health research and care. The review identifies research areas in need of attention to address health inequities and promote mental/brain health in Brazilian immigrants and their offspring living in the U.S. These research areas are: 1) epidemiological studies to map the prevalence and incidence of mental/brain health conditions; 2) research on aging and AD/ADRD risk factors among Brazilian populations in the U.S.; and 3) the need for greater representation of U.S‐residing Brazilian population in other relevant research areas involving genetics, neuropathology, and clinical trials.ConclusionsThe recommendation and research efforts proposed should help to pave the way for the development of community‐engagement research and to promote mental/brain health education, improvement of mental/brain health and AD/ADRD services, and the development of culturally‐informed intervention to the U.S.‐residing Brazilian communities.HIGHLIGHTS The Brazilian population in the United States is growing but is underrepresented in U.S. health research. Approximately 71% of Brazilian immigrants in the United States are undocumented, with an increased risk for health inequities. Mental health is reported as a central health priority by Brazilian immigrants in the United States. There is a lack of research on Alzheimer's disease and other dementias (ADRD) in Brazilian immigrants in the United States. Epidemiological research is needed to map the prevalence/incidence of mental health conditions and ADRD risk factors among Brazilian immigrants in the United States.

show abstract

Section: Research In Contextmentioning

confidence: 99%

Section: Considerations For Brain Health Equity Research In the Us‐br...mentioning

confidence: 99%

Section: Research In Contextmentioning

confidence: 99%

See 1 more Smart Citation

The (in)visible Brazilians: A perspective review on the need for brain health and dementia research with Brazilian immigrants in the United States

Simon,

Brucki,

Fonseca

et al. 2023

A&D Transl Res & Clin Interv

View full text Add to dashboard Cite

show abstract

Human N-acetyltransferase 2 (NAT2) gene variability in Brazilian populations from different geographical areas

Lopes,

Teixeira,

Cabello

et al. 2023

Front. Pharmacol.

View full text Add to dashboard Cite

Introduction: Several polymorphisms altering the NAT2 activity have already been identified. The geographical distribution of NAT2 variants has been extensively studied and has been demonstrated to vary significantly among different ethnic population. Here, we describe the genetic variability of human N-acetyltransferase 2 (NAT2) gene and the predominant genotype-deduced acetylation profiles of Brazilians.Methods: A total of 964 individuals, from five geographical different regions, were genotyped for NAT2 by sequencing the entire coding exon.Results: Twenty-three previously described NAT2 single nucleotide polymorphisms (SNPs) were identified, including the seven most common ones globally (c.191G>A, c.282C>T, c.341T>C, c.481C>T, c.590G>A, c.803A>G and c.857G>A). The main allelic groups were NAT2*5 (36%) and NAT2*6 (18.2%), followed to the reference allele NAT2*4 (20.4%). Combined into genotypes, the most prevalent allelic groups were NAT2*5/*5 (14.6%), NAT2*5/*6 (11.9%) and NAT2*6/*6 (6.2%). The genotype deduced NAT2 slow acetylation phenotype was predominant but showed significant variability between geographical regions. The prevalence of slow acetylation phenotype was higher in the Northeast, North and Midwest (51.3%, 45.5% and 41.5%, respectively) of the country. In the Southeast, the intermediate acetylation phenotype was the most prevalent (40.3%) and, in the South, the prevalence of rapid acetylation phenotype was significantly higher (36.7%), when compared to other Brazilian states (p < 0.0001). Comparison of the predicted acetylation profile among regions showed homogeneity among the North and Northeast but was significantly different when compared to the Southeast (p = 0.0396). The Southern region was significantly different from all other regions (p < 0.0001).Discussion: This study contributes not only to current knowledge of the NAT2 population genetic diversity in different geographical regions of Brazil, but also to the reconstruction of a more accurate phenotypic picture of NAT2 acetylator profiles in those regions.

show abstract

Challenges in selecting admixture models and marker sets to infer genetic ancestry in a Brazilian admixed population

Cited by 2 publications

References 56 publications

The (in)visible Brazilians: A perspective review on the need for brain health and dementia research with Brazilian immigrants in the United States

The (in)visible Brazilians: A perspective review on the need for brain health and dementia research with Brazilian immigrants in the United States

Human N-acetyltransferase 2 (NAT2) gene variability in Brazilian populations from different geographical areas

Contact Info

Product

Resources

About