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Dive into the research topics where Ney Pereira Carneiro dos Santos is active.

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Featured researches published by Ney Pereira Carneiro dos Santos.


Human Mutation | 2010

Assessing individual interethnic admixture and population substructure using a 48–insertion‐deletion (INSEL) ancestry‐informative marker (AIM) panel

Ney Pereira Carneiro dos Santos; Elzemar Martins Ribeiro-Rodrigues; Ândrea Ribeiro-dos-Santos; Rui Pereira; Leonor Gusmão; António Amorim; João Farias Guerreiro; Marco A. Zago; Cecilia Helena Fricke Matte; Mara H. Hutz; Sidney Santos

Estimating the proportions of different ancestries in admixed populations is very important in population genetics studies, and it is particularly important for detecting population substructure effects in case‐control association studies. In this work, a set of 48 ancestry‐informative insertion‐deletion polymorphisms (INDELs) were selected with the goal of efficiently measuring the proportions of three different ancestries (sub‐Saharan African, European, and Native American) in mixed populations. All selected markers can be easily analyzed via multiplex PCR and detected with standard capillary electrophoresis. A total of 593 unrelated individuals representative of European, African, and Native American parental populations were typed, as were 380 individuals from three Brazilian populations with known admixture patterns. As expected, the interethnic admixture estimates show that individuals from southern Brazil present an almost exclusively European ancestry; Afro‐descendant communities in the Amazon region, apart from the major African contribution, present some degree of admixture with Europeans and Native Americans; and a sample from Belém, in the northeastern Amazon, shows a significant contribution of the three ethnic groups, although with a greater European proportion. In summary, a panel of ancestry‐informative INDELs was optimized and proven to be a valuable tool for estimating individual and global ancestry proportions in admixed populations. The ability to accurately infer interethnic admixtures highlights the usefulness of this marker set for assessing population substructure in association studies, particularly those conducted in Brazilian and other Latin American populations sharing trihybrid ancestry patterns. Hum Mutat 31:184–190, 2010.


PLOS Genetics | 2013

Continent-Wide Decoupling of Y-Chromosomal Genetic Variation from Language and Geography in Native South Americans

Lutz Roewer; Michael Nothnagel; Leonor Gusmão; Verónica Gomes; Miguel González; Daniel Corach; Andrea Sala; Evguenia Alechine; Teresinha de Jesus Brabo Ferreira Palha; Ney Pereira Carneiro dos Santos; Andrea K. Ribeiro-dos-Santos; Maria Geppert; Sascha Willuweit; Marion Nagy; Sarah Zweynert; Miriam Baeta; Carolina Núñez; Begoña Martínez-Jarreta; Fabricio González-Andrade; E.F. Carvalho; D.A. Silva; J.J. Builes; Daniel Turbón; Ana María López Parra; Eduardo Arroyo-Pardo; Ulises Toscanini; Lisbeth Borjas; Claudia Barletta; Elizabeth Ewart; Sidney Santos

Numerous studies of human populations in Europe and Asia have revealed a concordance between their extant genetic structure and the prevailing regional pattern of geography and language. For native South Americans, however, such evidence has been lacking so far. Therefore, we examined the relationship between Y-chromosomal genotype on the one hand, and male geographic origin and linguistic affiliation on the other, in the largest study of South American natives to date in terms of sampled individuals and populations. A total of 1,011 individuals, representing 50 tribal populations from 81 settlements, were genotyped for up to 17 short tandem repeat (STR) markers and 16 single nucleotide polymorphisms (Y-SNPs), the latter resolving phylogenetic lineages Q and C. Virtually no structure became apparent for the extant Y-chromosomal genetic variation of South American males that could sensibly be related to their inter-tribal geographic and linguistic relationships. This continent-wide decoupling is consistent with a rapid peopling of the continent followed by long periods of isolation in small groups. Furthermore, for the first time, we identified a distinct geographical cluster of Y-SNP lineages C-M217 (C3*) in South America. Such haplotypes are virtually absent from North and Central America, but occur at high frequency in Asia. Together with the locally confined Y-STR autocorrelation observed in our study as a whole, the available data therefore suggest a late introduction of C3* into South America no more than 6,000 years ago, perhaps via coastal or trans-Pacific routes. Extensive simulations revealed that the observed lack of haplogroup C3* among extant North and Central American natives is only compatible with low levels of migration between the ancestor populations of C3* carriers and non-carriers. In summary, our data highlight the fact that a pronounced correlation between genetic and geographic/cultural structure can only be expected under very specific conditions, most of which are likely not to have been met by the ancestors of native South Americans.


International Journal of Legal Medicine | 2010

X-linked insertion/deletion polymorphisms: forensic applications of a 33-markers panel

Natalle S.C. Freitas; Rafael Lima Resque; Elzemar Martins Ribeiro-Rodrigues; João Farias Guerreiro; Ney Pereira Carneiro dos Santos; Ândrea Ribeiro-dos-Santos; Sidney Santos

Insertion/deletion (INDEL) polymorphisms are diallelic markers with potential characteristics for use in forensics and biological anthropology, including: the simplicity of laboratory analysis, the possibility of genotyping many markers in a single PCR multiplex reaction, as well as analyzing markers with special inheritance types, such as those linked to the X chromosome (X-INDEL). In this work we developed a laboratory analysis methodology using a 33-INDEL marker panel for the X chromosome in a single PCR multiplex reaction, followed by a capillary electrophoresis run. We employed the panel to genotype a sample of 351 individuals of a mixed population from the Brazilian Amazon. The results demonstrate that the measurement of biostatistical parameters for forensic use in this population is compatible with prior estimates from other populations using current X-STR panels.


Malaria Journal | 2012

IL1B, IL4R, IL12RB1 and TNF gene polymorphisms are associated with Plasmodium vivax malaria in Brazil

Vinicius de Albuquerque Sortica; Maristela G. Cunha; Maria Deise de Oliveira Ohnishi; José Maria de Souza; Ândrea Ribeiro-dos-Santos; Ney Pereira Carneiro dos Santos; Sidia M. Callegari-Jacques; Sidney Santos; Mara H. Hutz

BackgroundMalaria is among the most prevalent parasitic diseases worldwide. In Brazil, malaria is concentrated in the northern region, where Plasmodium vivax accounts for 85% disease incidence. The role of genetic factors in host immune system conferring resistance/susceptibility against P. vivax infections is still poorly understood.MethodsThe present study investigates the influence of polymorphisms in 18 genes related to the immune system in patients with malaria caused by P. vivax. A total of 263 healthy individuals (control group) and 216 individuals infected by P. vivax (malaria group) were genotyped for 33 single nucleotide polymorphisms (SNPs) in IL1B, IL2, IL4, IL4R, IL6, IL8, IL10, IL12A, IL12B, IL12RB1, SP110, TNF, TNFRSF1A, IFNG, IFNGR1, VDR, PTPN22 and P2X7 genes. All subjects were genotyped with 48 ancestry informative insertion-deletion polymorphisms to determine the proportion of African, European and Amerindian ancestry. Only 13 SNPs in 10 genes with differences lower than 20% between cases and controls in a Poisson Regression model with age as covariate were further investigated with a structured population association test.ResultsThe IL1B gene -5839C > T and IL4R 1902A > G polymorphisms and IL12RB1 -1094A/-641C and TNF -1031 T/-863A/-857 T/-308 G/-238 G haplotypes were associated with malaria susceptibility after population structure correction (p = 0.04, p = 0.02, p = 0.01 and p = 0.01, respectively).ConclusionPlasmodium vivax malaria pathophysiology is still poorly understood. The present findings reinforce and increase our understanding about the role of the immune system in malaria susceptibility.


American Journal of Human Biology | 2009

Assessing interethnic admixture using an X‐linked insertion‐deletion multiplex

Elzemar Martins Ribeiro-Rodrigues; Ney Pereira Carneiro dos Santos; Ândrea Kely Campos Ribeiro dos Santos; Rui Pereira; António Amorim; Leonor Gusmão; Marco A. Zago; Sidney Santos

In this study, a PCR multiplex was optimized, allowing the simultaneous analysis of 13 X‐chromosome Insertion/deletion polymorphisms (INDELs). Genetic variation observed in Africans, Europeans, and Native Americans reveals high inter‐population variability. The estimated proportions of X‐chromosomes in an admixed population from the Brazilian Amazon region show a predominant Amerindian contribution (≅41%), followed by European (≅32%) and African (≅27%) contributions. The proportion of Amerindian contribution based on X‐linked data is similar to the expected value based on mtDNA and Y‐chromosome information. The accuracy for assessing interethnic admixture, and the high differentiation between African, European, and Native American populations, demonstrates the suitability of this INDEL set to measure ancestry proportions in three‐hybrid populations, as it is the case of Latin American populations. Am. J. Hum. Biol. 2009.


BMC Gastroenterology | 2012

hTERT, MYC and TP53 deregulation in gastric preneoplastic lesions

Tanielly Cristina Raiol Silva; Mariana Ferreira Leal; Danielle Queiroz Calcagno; Carolina Rosal Teixeira de Souza; André Salim Khayat; Ney Pereira Carneiro dos Santos; Raquel Carvalho Montenegro; Silvia Helena Barem Rabenhorst; Mayara Quaresma Nascimento; Paulo Pimentel Assumpção; Marília de Arruda Cardoso Smith; Rommel Rodríguez Burbano

BackgroundGastric cancer is a serious public health problem in Northern Brazil and in the world due to its high incidence and mortality. Despite the severity of the disease, more research is needed to better understand the molecular events involved in this intestinal-type gastric carcinogenesis process. Since precancerous lesions precede intestinal-type gastric cancer, here, we evaluated the hTERT, MYC, and TP53 mRNA and protein expression, as well as TP33 copy number, in gastric preneoplastic lesions.MethodsWe evaluated 19 superficial gastritis, 18 atrophic gastritis, and 18 intestinal metaplasia from cancer-free individuals of Northern Brazil. Quantitative reverse transcription PCR was used to analyze the mRNA expression and immunohistochemical methods were used to assess protein immunoreactivity in tissue samples. The number of TP53 gene copies was investigated in gastric diseases by quantitative PCR.ResultsWe observed hTERT, MYC, and p53 immunoreactivity only in intestinal metaplasia samples. The immunoreactivity of these proteins was strongly associated with each other. A significantly higher MYC mRNA expression was observed in intestinal metaplasia compared to gastritis samples. Loss of TP53 was also only detected in intestinal metaplasia specimens.ConclusionsWe demonstrated that hTERT, MYC, and TP53 are deregulated in intestinal metaplasia of individuals from Northern Brazil and these alterations may facilitate tumor initiation.


American Journal of Human Biology | 2010

Estimates of Interethnic Admixture in the Brazilian Population Using a Panel of 24 X-Linked Insertion/Deletion Markers

Rafael Lima Resque; Natalle S.C. Freitas; Elzemar Martins Ribeiro Rodrigues; João Farias Guerreiro; Ney Pereira Carneiro dos Santos; Ândrea Kely Campos Ribeiro dos Santos; Marco A. Zago; Sidney Santos

Objectives. In this study, we aimed to identify ancestry informative haplotypes and make interethnic admixture estimates using X‐chromosome markers.


Clinical and Vaccine Immunology | 2013

Haplotypes of the IL10 gene as potential protection factors in leprosy patients.

Patricia Garcia; Dayse O. Alencar; Pablo Pinto; Ney Pereira Carneiro dos Santos; Claudio Guedes Salgado; Vinicius de Albuquerque Sortica; Mara H. Hutz; Ândrea Ribeiro-dos-Santos; Sidney Santos

ABSTRACT Leprosy is an infectious disease caused by Mycobacterium leprae characterized by dermatoneurological signs and symptoms that has a large number of new cases worldwide. Several studies have associated interleukin 10 with susceptibility/resistance to several diseases. We investigated haplotypes formed by three single nucleotide polymorphisms (SNPs) located in the IL10 gene (A-1082G, C-819T, and C-592A) in order to better understand the susceptibility to and severity of leprosy in an admixed northern Brazil population, taking into account estimates of interethnic admixture. We observed the genotypes ACC/ACC (P = 0.021, odds ratio [OR] [95% confidence interval (CI)] = 0.290 [0.085 to 0823]) and ACC/GCC (P = 0.003, OR [95% CI] = 0.220 [0.504 to 0.040]) presenting significant results for protection against leprosy development, framed in the profiles of low and medium interleukin production, respectively. Therefore, we suggest that genotypes A-1082G, C-819T, and C-592A formed by interleukin-10 polymorphisms are closely related to protection of the leprosy development in an admixed northern Brazil population, in particular ACC/ACC and ACC/GCC genotypes.


Human Biology | 2011

Afro-derived Amazonian populations: inferring continental ancestry and population substructure.

Luana Gomes; Lopes Maciel; Martins Ribeiro Rodrigues; Ney Pereira Carneiro dos Santos; Sidney Santos

Abstract A panel of Ancestry Informative Markers (AIMs) was used to identify population substructure and estimate individual and overall interethnic admixture in 294 individuals from seven African-derived communities of the Brazilian Amazon. A panel of 48 biallelic markers, representing the insertion (IN) or the deletion (DEL) of small DNA fragments, was employed for this purpose. Overall interethnic admixture estimates showed high miscegenation with other ethnic groups in all populations (between 46% and 64%). The proportion of ancestral genes varied significantly among individuals of the sample: the contribution of African genes varied between 12% and 75%; of European genes between 10% and 73%; and of Amerindians genes between 8% and 66%. The obtained data reveal a high contribution of Amerindian genes in these communities, unlike in other African-derived communities of the Northeast and the South of Brazil. In addition, the majority of the Amerindian contribution may result from the preferential inclusion of indigenous women in the African descent groups. High heterogeneity of the proportion of interethnic admixture among analyzed individuals was found when the proportion of ancestral genes of each individual of the sample was estimated. This heterogeneity is reflected in the fact that four populations can be considered as substructured and that the global African descent sample is possibly formed by two subpopulations.


BMC Research Notes | 2016

Distribution of allelic and genotypic frequencies of IL1A, IL4, NFKB1 and PAR1 variants in Native American, African, European and Brazilian populations.

Marcos Antônio Trindade Amador; Giovanna Chaves Cavalcante; Ney Pereira Carneiro dos Santos; Leonor Gusmão; João Farias Guerreiro; Ândrea Ribeiro-dos-Santos; Sidney Santos

AbstractBackground The inflammatory response plays a key role at different stages of cancer development. Allelic variants of the interleukin 1A (IL1A), interleukin 4 (IL4), nuclear factor kappa B1 (NFKB1) and protease-activated receptor 1 (PAR1) genes may influence not only the inflammatory response but also susceptibility to cancer development. Among major ethnic or continental groups, these polymorphic variants present different allelic frequencies. In admixed populations, such as the Brazilian population, data on distribution of these polymorphisms are limited. Here, we collected samples of cancer-free individuals from the north, northeast, midwest, south and southeast regions of Brazil and from the three main groups that gave rise to the Brazilian population: Native Americans from the Brazilian Amazon, Africans and Europeans. We describe the allelic distributions of four IL1A (rs3783553), IL4 (rs79071878), NFKB1 (rs28362491) and PAR1 (rs11267092) gene polymorphisms, which the literature describes as polymorphisms with a risk of cancer or worse prognosis for cancer.ResultsThe genotypic distribution of the four polymorphisms was statistically distinct between Native Americans, Africans and Europeans. For the allelic frequency of these polymorphisms, the Native American population was the most distinct among the three parental populations, and it included the greatest number of alleles with a risk of cancer or worse prognosis for cancer. The PAR1 gene polymorphism allelic distribution was similar among all Brazilian regions. For the other three markers, the northern region population was statistically distinct from other Brazilian region populations.ConclusionThe IL1A, IL4, NFKB1 and PAR1 gene polymorphism allelic distributions are homogeneous among the regional Brazilian populations, except for the northern region, which significantly differs from the other four Brazilian regions. Among the parental populations, the Native American population exhibited a higher incidence of alleles with risk of cancer or worse prognosis for cancer, which can indicate greater susceptibility to this disease. These genetic data may be useful for future studies on the association between these polymorphisms and cancer in the investigated populations.

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Sidney Santos

Federal University of Pará

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