The Role of Genetic Ancestry in Brazilian Patients With Primary Congenital Glaucoma

Rolim, Hévila; Cronemberger, Sebastião; Rangel, Hayana; Batista, Wagner Duarte; Bastos‐Rodrigues, Luciana; Marco, Luiz

doi:10.1097/ijg.0000000000000167

Cited by 9 publications

(17 citation statements)

References 17 publications

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“…The ancestry estimation in SLE patients and healthy individuals based on a set of 345 SNP‐AIMs showed that both groups had major European ancestral contributions, followed by African and Amerindian (Figure ). This finding is consistent with the ancestral composition of Southeastern Brazilian population that exhibited 60–80% of European contribution followed by minor contributions from African and Amerindian ancestral populations (Ferreira et al., ; Muniz et al., ; Pena et al., ; Rolim et al., ; Egan et al., ).…”

Section: Discussionsupporting

confidence: 84%

Ancestry Informative Marker Panel to Estimate Population Stratification Using Genome‐wide Human Array

Barbosa

Cagnin

Simioni

et al. 2017

Annals of Human Genetics

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Case-control studies are a powerful strategy to identify candidate genes in complex diseases. In admixed populations, association studies can be affected by population stratification, leading to spurious genetic associations. Ancestry informative markers (AIMs) can be used to minimise this effect. The aim of this work was to select a set of AIMs to estimate population stratification in a Brazilian case-control study performed using a genome-wide array. A total of 345 single nucleotide polymorphism (SNP) AIMs, selected from the Cytoscan HD array and based on previously reported panels, was used to discriminate between European, African, and Amerindian populations. These SNP-AIMs were used to infer ancestry in systemic lupus erythematosus (SLE) patients (n = 23) and in healthy subjects (n = 110). Moderate population substructure was observed between SLE and control groups (F 0.0113). Although patients and controls have shown a major European genomic contribution, significant differences in the European (P = 6.47 × 10 ) and African (P = 1.14 × 10 ) ancestries were detected between the two groups. We performed a two-step validation of the 345 SNP-AIMs panel estimating the ancestral contributions using a panel of 12 AIMs and approximately 70K SNPs from the array. Evaluation of population substructure in case-control studies, avoiding spurious genetic associations, can be performed using our panel of 345 SNP-AIMs.

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Section: Discussionsupporting

confidence: 84%

Ancestry Informative Marker Panel to Estimate Population Stratification Using Genome‐wide Human Array

Barbosa

Cagnin

Simioni

et al. 2017

Annals of Human Genetics

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“…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 . 36 PTL f and PPROM g BMC Pregnancy and Childbirthcase-control735 PTL 70.5% PPROM 67.7% control 64.4% PTL 14.1% PPROM 15.1% control 17.8%PTL 12.1% PPROM 12.8% control 11.7%Furini et al .…”

Section: Resultsmentioning

confidence: 99%

“…32 20Sickle cell diseaseNortheastSNPs82016Rolim et al . 33 90PCG f SoutheastINDELs402016Ramos et al . 36 414PTL g and PPROM h SoutheastINDELs612016Furini et al .…”

Section: Resultsmentioning

confidence: 99%

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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“…Brazil is a country with a highly admixed population, composed mainly of European, African, Amerindian and Asian ancestry. Many studies in this country have highlighted differences between these ancestries and the Brazilian regions [7][8][9][10][11], including aspects of cancer development [12]. This is also notable by the higher incidence of GC in northern Brazil in comparison to the general rates of this country and the world [13].…”

Section: Introductionmentioning

confidence: 99%

Investigation of INDEL variants in apoptosis: the relevance to gastric cancer

et al. 2020

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Background Apoptosis is a type of cell death involved in different pathways inherent to the cell and the evasion from this mechanism has been related to cancer, although this process remains not very well comprehended. Gastric cancer (GC) is one of the most incident and aggressive types of cancer worldwide. In this study, we analyzed the distribution of INDEL variants in GC patients (Case) and individuals from the general population (Control) from the Amazon region, in which GC is remarkably frequent. Methods A panel of nine INDEL markers in apoptosis-related genes (BCL2 rs11269260, CASP3 rs4647655, CASP8 rs3834129 and rs59308963, CASP9 rs4645982 and rs61079693, FADD rs4197, FAS rs10562972 and TP53 rs17880560) was developed and genotyped by multiplex PCR in both groups. Results In our analyses, only marker rs4197 (FADD gene) was associated to GC development as follows: INS/DEL genotype of rs4197 increasing in about 2-fold the chances of developing this type of cancer (P = 0.046; OR = 1.940; 95%CI = 1.011–3.725). Conclusion Our results suggest that rs4197 (FADD gene) might play a role in gastric carcinogenesis in the investigated population. More studies are needed to clarify this relation. Here, we highlight the importance of investigating INDEL variants in genes involved in apoptosis.

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The Role of Genetic Ancestry in Brazilian Patients With Primary Congenital Glaucoma

Cited by 9 publications

References 17 publications

Ancestry Informative Marker Panel to Estimate Population Stratification Using Genome‐wide Human Array

Ancestry Informative Marker Panel to Estimate Population Stratification Using Genome‐wide Human Array

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

Investigation of INDEL variants in apoptosis: the relevance to gastric cancer

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