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au:"Petzl-Erler, Maria Luiza"

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An immunogenetic view of COVID-19
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Aguiar, Vitor R. C.

; Augusto, Danillo G.

; Castelli, Erick C.

; Hollenbach, Jill A.

; Meyer, Diogo

; Nunes, Kelly

; Petzl-Erler, Maria Luiza

Genetics and Molecular Biology

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2021, Volume 44 N. 1 elocation e20210036

Abstract: En | Text: En | PDF: En

Abstract Meeting the challenges brought by the COVID-19 pandemic requires an interdisciplinary approach. In this context, integrating knowledge of immune function with an understanding of how genetic variation influences the nature of immunity is a key challenge. Immunogenetics can help explain the heterogeneity of susceptibility and protection to the viral infection and disease progression. Here, we review the knowledge developed so far, discussing fundamental genes for triggering the innate and adaptive immune responses associated with a viral infection, especially with the SARS-CoV-2 mechanisms. We emphasize the role of the HLA and KIR genes, discussing what has been uncovered about their role in COVID-19 and addressing methodological challenges of studying these genes. Finally, we comment on questions that arise when studying admixed populations, highlighting the case of Brazil. We argue that the interplay between immunology and an understanding of genetic associations can provide an important contribution to our knowledge of COVID-19.

https://doi.org/10.1590/1678-4685-gmb-2021-0036 351 downloads

Blood groups in Native Americans: a look beyond ABO and Rh
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Rodrigues, Mirelen Moura de Oliveira

; Höher, Gabriela

; Waskow, Gabriela

; Hutz, Mara Helena

; Lindenau, Juliana Dal-Ri

; Petzl-Erler, Maria Luiza

; Callegari-Jacques, Sidia Maria

; Almeida, Silvana

; Fiegenbaum, Marilu

Genetics and Molecular Biology

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2021, Volume 44 N. 2 elocation e20200255

Abstract: En | Text: En | PDF: En

Abstract The study presents comparisons between blood group frequencies beyond ABO and Rh blood systems in Native American populations and previously published data from Brazilian blood donors. The frequencies of Diego (c.2561C>T, rs2285644), Kell (c.578C>T, rs8176058), Duffy (c.125A>G, rs12075, c.1−67T>C, rs2814778) and Kidd (c.838A>G, rs1058396) variants in Kaingang (n=72) and Guarani (n=234) populations from Brazil (1990-2000) were obtained and compared with data from these populations sampled during the 1960s and with individuals of different Brazilian regions. Data showed high frequencies of DI*01 and FY*01 alleles: 11.8% and 57.6% in Kaingang and 6.8% and 75.7% in Guarani groups, respectively. The main results indicated: (1) reduction in genetic distance over time of Kaingang and Guarani in relation to other Brazilian populations is suggestive of ongoing admixture; (2) significant differences in some frequencies of blood group markers (especially Diego, Kidd and Duffy) in relation to Native Americans and individuals from different geographical regions of Brazil. Our study shows that the frequency of red blood cell polymorphisms in two Native American groups is very different from that of blood donors, when we evaluated blood groups different from ABO and Rh systems, suggesting that a better ethnic characterization of blood unit receptors is necessary.

https://doi.org/10.1590/1678-4685-gmb-2020-0255 580 downloads

COVID-19: The question of genetic diversity and therapeutic intervention approaches
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Figueiredo, David Livingstone Alves

; Ximenez, João Paulo Bianchi

; Seiva, Fábio Rodrigues Ferreira

; Panis, Carolina

; Bezerra, Rafael dos Santos

; Ferrasa, Adriano

; Cecchini, Alessandra Lourenço

; Medeiros, Alexandra Ivo de

; Almeida, Ana Marisa Fusco

; Ramão, Anelisa

; Boldt, Angelica Beate Winter

; Moya, Carla Fredrichsen

; Chin, Chung Man

; Paula, Daniel de

; Rech, Daniel

; Gradia, Daniela Fiori

; Malheiros, Danielle

; Venturini, Danielle

; Tavares, Eliandro Reis

; Carraro, Emerson

; Ribeiro, Enilze Maria de Souza Fonseca

; Pereira, Evani Marques

; Tuon, Felipe Francisco

; Follador, Franciele Aní Caovilla

; Fernandes, Glaura Scantamburlo Alves

; Volpato, Hélito

; Cólus, Ilce Mara de Syllos

; Oliveira, Jaqueline Carvalho de

; Rodrigues, Jean Henrique da Silva

; Santos, Jean Leandro dos

; Visentainer, Jeane Eliete Laguila

; Brandi, Juliana Cristina

; Serpeloni, Juliana Mara

; Bonini, Juliana Sartori

; Oliveira, Karen Brajão de

; Fiorentin, Karine

; Lucio, Léia Carolina

; Faccin-Galhardi, Ligia Carla

; Ferreto, Lirane Elize Defante

; Lioni, Lucy Megumi Yamauchi

; Consolaro, Marcia Edilaine Lopes

; Vicari, Marcelo Ricardo

; Arbex, Marcos Abdo

; Pileggi, Marcos

; Watanabe, Maria Angelica Ehara

; Costa, Maria Antônia Ramos

; Giannini, Maria José S. Mendes

; Amarante, Marla Karine

; Khalil, Najeh Maissar

; Lima Neto, Quirino Alves de

; Herai, Roberto H.

; Guembarovski, Roberta Losi

; Shinsato, Rogério N.

; Mainardes, Rubiana Mara

; Giuliatti, Silvana

; Yamada-Ogatta, Sueli Fumie

; Gerber, Viviane Knuppel de Quadros

; Pavanelli, Wander Rogério

; Silva, Weber Claudio da

; Petzl-Erler, Maria Luiza

; Valente, Valeria

; Soares, Christiane Pienna

; Cavalli, Luciane Regina

; Silva Jr, Wilson Araujo

Genetics and Molecular Biology

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2021, Volume 44 N. 1 elocation e20200452

Abstract: En | Text: En | PDF: En

Abstract Coronavirus disease 2019 (COVID-19), caused by the Severe Acute Respiratory Syndrome Coronavirus type 2 (SARS-CoV-2), is the largest pandemic in modern history with very high infection rates and considerable mortality. The disease, which emerged in China’s Wuhan province, had its first reported case on December 29, 2019, and spread rapidly worldwide. On March 11, 2020, the World Health Organization (WHO) declared the COVID-19 outbreak a pandemic and global health emergency. Since the outbreak, efforts to develop COVID-19 vaccines, engineer new drugs, and evaluate existing ones for drug repurposing have been intensively undertaken to find ways to control this pandemic. COVID-19 therapeutic strategies aim to impair molecular pathways involved in the virus entrance and replication or interfere in the patients’ overreaction and immunopathology. Moreover, nanotechnology could be an approach to boost the activity of new drugs. Several COVID-19 vaccine candidates have received emergency-use or full authorization in one or more countries, and others are being developed and tested. This review assesses the different strategies currently proposed to control COVID-19 and the issues or limitations imposed on some approaches by the human and viral genetic variability.

https://doi.org/10.1590/1678-4685-gmb-2020-0452

Beyond the HLA polymorphism: A complex pattern of genetic susceptibility to pemphigus
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Petzl-Erler, Maria Luiza

Genetics and Molecular Biology

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2020, Volume 43 N. 3 elocation e20190369

Abstract: En | Text: En | PDF: En

Abstract Pemphigus is a group of autoimmune bullous skin diseases that result in significant morbidity. As for other multifactorial autoimmune disorders, environmental factors may trigger the disease in genetically susceptible individuals. The goals of this review are to summarize the state of knowledge about the genetic variation that may affect the susceptibility and pathogenesis of pemphigus vulgaris and pemphigus foliaceus – both the endemic and the sporadic forms –, to compare and discuss the possible meaning of the associations reported, and to propose recommendations for new research initiatives. Understanding how genetic variants translate into pathogenic mechanisms and phenotypes remains a mystery for most of the polymorphisms that contribute to disease susceptibility. However, genetic studies provide a strong foundation for further developments in this field by generating testable hypotheses. Currently, results still have limited influence on disease prevention and prognosis, drug development, and clinical practice, although the perspectives for future applications for the benefit of patients are encouraging. Recommendations for the continued advancement of our understanding as to the impact of genetic variation on pemphigus include these partially overlapping goals: (1) Querying the functional effect of genetic variants on the regulation of gene expression through their impact on the nucleotide sequence of cis regulatory DNA elements such as promoters and enhancers, the splicing of RNA, the structure of regulatory RNAs and proteins, binding of these regulatory molecules to regulatory DNA elements, and alteration of epigenetic marks; (2) identifying key cell types and cell states that are implicated in pemphigus pathogenesis and explore their functional genomes; (3) integrating structural and functional genomics data; (4) performing disease-progression longitudinal studies to disclose the causal relationships between genetic and epigenetic variation and intermediate disease phenotypes; (5) understanding the influence of genetic and epigenetic variation in the response to treatment and the severity of the disease; (6) exploring gene-gene and genotype-environment interactions; (7) developing improved pemphigus-prone and non-prone animal models that are appropriate for research about the mechanisms that link genotypes to pemphigus. Achieving these goals will demand larger samples of patients and controls and multisite collaborations.

https://doi.org/10.1590/1678-4685-gmb-2019-0369 1531 downloads

Single nucleotide polymorphisms in the interferon gamma gene are associated with distinct types of retinochoroidal scar lesions presumably caused by Toxoplasma gondii infection
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Peixe, Ricardo Guerra

; Boechat, Marcela Santana Bastos

; Rangel, Alba Lucinia Peixoto

; Rosa, Rhônia França Gomes

; Petzl-Erler, Maria Luiza

; Bahia-Oliveira, Lilian MG

Memórias do Instituto Oswaldo Cruz

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feb 2014, Volume 109 N. 1 Pages 99 - 107

Abstract: En | Text: En | PDF: En

The association of single nucleotide polymorphisms (SNPs) in the interferon (IFN)-γ gene ( IFNG ) with different types of retinal scar lesions presumably caused by toxoplasmosis were investigated in a cross-sectional population-based genetic study. Ten SNPs were investigated and after Bonferroni correction, only the associations between SNPs rs2069718 and rs3181035 with retinal/retinochoroidal scar lesions type A (most severe scar lesions) and C (least severe scar lesions), respectively, remained significant. The associations of two different IFNG SNPs with two different types of retinal lesions attributable to toxoplasmosis support the hypothesis that different inflammatory mechanisms underlie the development of these lesions. The in vitro analysis of IFN-γ secretion by peripheral blood mononuclear cells stimulated with Toxoplasma gondii antigens was also investigated. The association between SNP rs2069718 and type A scar lesions revealed that differential IFN-γ levels are correlated with distinct genotypes. However, no correlation was observed with IFN-γ secretion levels and the SNP rs3181035 , which was significantly associated with type C scar lesions. Our findings strongly suggest that immunogenetic studies of individuals with congenital or postnatally acquired infection are needed to better understand the role of IFN-γ and its polymorphisms in the pathogenesis of ocular toxoplasmosis.

https://doi.org/10.1590/0074-0276140539 2493 downloads

CTLA4 CT60 gene polymorphism is not associated with differential susceptibility to pemphigus foliaceus
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Pincerati, Márcia Regina

; Dalla-Costa, Ricardo

; Petzl-Erler, Maria Luiza

Genetics and Molecular Biology

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2010, Volume 33 N. 3 Pages 442 - 444

Abstract: En | Text: En | PDF: En

Pemphigus foliaceus is an organ-specific autoimmune disease characterized by autoantibodies against the extracellular region of desmoglein 1, a protein that mediates intercellular adhesion in desmosomes. Cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) is a key negative regulator of the T cell immune response, playing an important role in T cell homeostasis and maintenance of peripheral tolerance. Polymorphisms in the CTLA4 gene have been associated with autoimmune diseases and the functional CT60 single nucleotide polymorphism (rs3087243, also named 6230G > A) has been proposed to be a casual variant in several of these diseases. The aim of this study was to ascertain whether this polymorphism is associated with inter-individual variation in susceptibility to pemphigus foliaceus. The population sample in this case-control association study comprised 248 patient and 367 controls. We did not found a significant association of pemphigus foliaceus with the CT60 variants. We conclude that the CTLA4 CT60 polymorphism is not an important factor for pemphigus foliaceus pathogenesis in the population analyzed.

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Analysis of the CCR5 gene coding region diversity in five South American populations reveals two new non-synonymous alleles in Amerindians and high CCR5*D32 frequency in Euro-Brazilians
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Boldt, Angelica B.W.

; Culpi, Lodércio

; Tsuneto, Luiza T.

; Souza, Ilíada R.

; Kun, Jürgen F.J.

; Petzl-Erler, Maria Luiza

Genetics and Molecular Biology

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2009, Volume 32 N. 1 Pages 12 - 19

Abstract: En | Text: En | PDF: En

The CC chemokine receptor 5 (CCR5) molecule is an important co-receptor for HIV. The effect of the CCR5*D32 allele in susceptibility to HIV infection and AIDS disease is well known. Other alleles than CCR5*D32 have not been analysed before, neither in Amerindians nor in the majority of the populations all over the world. We investigated the distribution of the CCR5 coding region alleles in South Brazil and noticed a high CCR5*D32 frequency in the Euro-Brazilian population of the Paraná State (9.3%), which is the highest thus far reported for Latin America. The D32 frequency is even higher among the Euro-Brazilian Mennonites (14.2%). This allele is uncommon in Afro-Brazilians (2.0%), rare in the Guarani Amerindians (0.4%) and absent in the Kaingang Amerindians and the Oriental-Brazilians. R223Q is common in the Oriental-Brazilians (7.7%) and R60S in the Afro-Brazilians (5.0%). A29S and L55Q present an impaired response to b-chemokines and occurred in Afro- and Euro-Brazilians with cumulative frequencies of 4.4% and 2.7%, respectively. Two new non-synonymous alleles were found in Amerindians: C323F (g.3729G > T) in Guarani (1.4%) and Y68C (g.2964A > G) in Kaingang (10.3%). The functional characteristics of these alleles should be defined and considered in epidemiological investigations about HIV-1 infection and AIDS incidence in Amerindian populations.

2466 downloads

Absence of the -116A variant of the butyrylcholinesterase BCHE gene in Guarani Amerindians from Mato Grosso do Sul
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Nunes, Kelly

; Souza, Ricardo L.R.

; Furtado-Alle, Lupe

; Tsuneto, Luiza T.

; Petzl-Erler, Maria Luiza

; Chautard-Freire-Maia, Eleidi A.

Genetics and Molecular Biology

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2008, Volume 31 N. 1 Pages 27 - 28

Abstract: En | Text: En | PDF: En

Butyrylcholinesterase (BChE; EC 3.1.1.8; Online Mendelian Inheritance in Man (OMIM) number 177400) is an enzyme found in many human tissues and encoded by the BCHE gene, of which 65 variants have been identified. In a recent study we found that the -116A variant of exon 1 of the BCHE gene was associated with lower mean BChE activity. The present study analyzed the -116 single nucleotide polymorphism (SNP) in 253 Guarani Amerindian Brazilians from the state of Mato Grosso do Sul (148 Guarani-Kaiowá, 83 Guarani-Ñandeva and 22 Kaiowá-Ñandeva descendants) and verified that they were all homozygotic for the -116G variant. A comparative analysis of the -116 site in nine vertebrate species indicated the -116A variant as the ancestral type. This is the first study of the -116 SNP in Amerindians and it is therefore difficult to infer whether or not the -116A variant was always absent from southern paleo-Amerindians or was present and then subsequently lost due to evolutionary factors.

1581 downloads

Programmed cell death 1 gene (PDCD1) polymorphism and pemphigus foliaceus (fogo selvagem) disease susceptibility
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Braun-Prado, Karin

; Petzl-Erler, Maria Luiza

Genetics and Molecular Biology

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mar 2007, Volume 30 N. 2 Pages 314 - 321

Abstract: En | Text: En | PDF: En

Pemphigus foliaceus, also known as fogo selvagem, is an autoimmune disease of the epidermis characterized by superficial blisters and antibodies against desmoglein 1. It is a multifactorial disease and genetic susceptibility is oligogenic or polygenic. Considering the crucial function of the programmed cell death 1 molecule (PD-1) in the immune response, the aim of this study was to verify if variants of the PDCD1 gene influence susceptibility and resistance to pemphigus foliaceus, in a case - control disease association study. We analyzed patients (n = 154) and unaffected control individuals (n = 325) of the Brazilian population, in respect to the PD1.3(G,A) PD1.5(C,T) and PD1.6(A,G) single nucleotide polymorphisms (SNPs) and also investigated, for the first time, the exon 5 PDCD1 microsatellite (CTG)n. The patient and control samples were divided into strata, according to the predominant ancestry of the individuals (African or European). The PD1.5 genotype distribution in the patients sample was almost indistinguishable from that in the control sample, in both population strata. A possible negative association between pemphigus foliaceus and allele PD1.3A was observed in the total African and European ancestry population sample (odds ratio (OR) = 0.55, p = 0.066) and should be investigated in forthcoming studies. The PD1.6A allele was over-represented among the patients of predominantly European ancestry due to an increase of both the G/A and the A/A genotypes (OR = 2.12 and 1.74, respectively; p = 0.035). We conclude that polymorphisms of the PDCD1 gene may influence susceptibility to pemphigus foliaceus, at least in Brazilians of predominantly European ancestry.

3072 downloads Cited 2 times in SciELO

10.

Butyrylcholinesterase genetic variability in Guarani Amerindians from the Brazilian state of Mato Grosso do Sul
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Furtado, Lupe

; Souza, Ricardo L. R.

; Tsuneto, Luiza T.

; Petzl-Erler, Maria Luiza

; Chautard-Freire-Maia, Eleidi A.

Genetics and Molecular Biology

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2006, Volume 29 N. 1 Pages 8 - 13

Abstract: En | Text: En | PDF: En

Human butyrylcholinesterase (BChE; EC 3.1.1.8) is a polymorphic enzyme coded by the BCHE gene (3q26.1-q26.2) while the CHE2 gene (2q33-q35) determines a still not characterized substance that forms a complex with BChE (C5), being the CHE2 C5+ and CHE2 C5- phenotypes detected in electrophoresis. The present study investigated BCHE and CHE2 variability and the BChE activity of Brazilian Guarani Amerindians from the Kaiowá and Ñandeva sub-groups living in several indigenous territories in the Brazilian state of Mato Grosso do Sul. The frequency of the BCHE exon 2 D70G (A) allele was 0.60% ± 0.35% while that of the BCHE exon 2 G390V (F-2) allele, never before screened in Amerindians, was 8.82% ± 1.35%. This is the first time that the BCHE gene exon 4 A539T (K) allele has been surveyed in Brazilian Amerindians where it was found at a frequency of 3.69% ± 0.85%, similar to that found in Chilean Mapuche Amerindians. The BCHE gene variability seen in this survey differs from that of non-isolated populations in respect to both A539T and G390V allele frequency. The CHE2 C5+ phenotype frequency was 14.40% ± 2.22% and falls within the range of that found for other Brazilian Amerindian samples.

1892 downloads Cited 1 time in SciELO

11.

Human T-cell lymphotropic virus type II in Guaraní Indians, Southern Brazil
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Menna-Barreto, Marcio

; Bender, Ana Ligia

; Bonatto, Sandro L.

; Freitas, Loreta B.

; Salzano, Francisco M.

; Tsuneto, Luiza T.

; Petzl-Erler, Maria Luiza

Cadernos de Saúde Pública

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dec 2005, Volume 21 N. 6 Pages 1947 - 1951

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

O vírus linfotrópico de células T-humanas do tipo II (HTLV-II) é identificado em muitos grupos de ameríndios. No Brasil, tem sido encontrado em indivíduos da população urbana, bem como em índios oriundos da região Amazônica. Os Índios Guaraní, do Sul do país, foram investigados para infecção por HTLV-I/II. Três indivíduos, oriundos de uma amostra de 52 índios, demonstraram sororeatividade para HTLV-II (ensaio imunoenzimático e Western blot). Este estudo preliminar foi o primeiro a identificar a presença de infecção por HTLV-II em ameríndios do Sul do Brasil.

Human T-cell lymphotropic virus type II (HTLV-II) is found in many New World Indian groups on the American continent. In Brazil, HTLV-II has been found among urban residents and Indians in the Amazon region, in the North. Guaraní Indians in the South of Brazil were studied for HTLV-I/II infection. Among 52 individuals, three (5.76%) showed positive anti-HTLV-II antibodies (enzyme-linked immunosorbent assay and Western blot). This preliminary report is the first seroepidemiological study showing HTLV-II infection among Indians in the South of Brazil.

1060 downloads Cited 3 times in SciELO

12.

Human T-cell lymphotropic virus type II in Guaraní Indians, Southern Brazil
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Menna-Barreto, Marcio

; Bender, Ana Ligia

; Bonatto, Sandro L.

; Freitas, Loreta B.

; Salzano, Francisco M.

; Tsuneto, Luiza T.

; Petzl-Erler, Maria Luiza

Cadernos de Saúde Pública

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dec 2005, Volume 21 N. 6 Pages 1947 - 1951

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

1817 downloads Cited 3 times in SciELO

13.

Perfil de auto-anticorpos em índios das tribos Kaingang e Guarani do Sul do Brasil
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Utiyama, Shirley Ramos da Rosa

; Guardiano, Joel

; Petzl-Erler, Maria Luiza

; Mocelim, Valmir

; Messias-Reason, Iara José T. de

Revista Panamericana de Salud Pública

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jun 2000, Volume 7 N. 6 Pages 371 - 376

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

O presente estudo teve por objetivo investigar o perfil de auto-anticorpos em 241 amostras de sangue de 176 índios Kaingang e 65 índios Guarani de três populações das reservas indígenas do Rio das Cobras e Ivaí, no Estado do Paraná, região Sul do Brasil. Foram investigados os anticorpos antimúsculo liso, antimitocôndrias, antinucleares, anticélulas gástricas parietais e antimicrossomas de fígado e rim, por método de imunofluorescência indireta. Os resultados foram comparados com os de um grupo de 100 indivíduos sadios, pertencentes à população geral. Obteve-se uma positividade total de 9% para a população indígena investigada e 4% para os controles, com resultado significativo para prevalência dos anticorpos antimúsculo liso nas populações Kaingang e Guarani do Rio das Cobras (P = 0,03). É provável que as práticas culturais envolvendo escarificações, tatuagens e processamento oral de alimentos, aliadas ao processo de aculturação e maior convívio com populações não indígenas, exponham os índios a doenças infecciosas anteriormente inexistentes entre os mesmos. Possíveis mecanismos de mimetismo molecular a antígenos virais ou bacterianos poderiam explicar a presença desses auto-anticorpos nessas populações indígenas.

This study investigated the autoantibody profile of 241 blood samples from 176 Kaingang and 65 Guarani Indians from three populations living on the Rio das Cobras and Ivaí reservations, in the state of Paraná, in southern Brazil. The presence of antimitochondrial, antismooth muscle, antinuclear, antiparietal cell, and anti-liver-kidney microsome antibodies was determined by indirect immunofluorescence. These results were compared with samples from 100 healthy Caucasian individuals from the general population of the state. Total positivity was 9% for the indigenous population and 4% for the control population. The prevalence of antismooth muscle antibodies was significantly higher among the Guarani and Kaingang individuals from the Rio das Cobras reservation (P = 0.03). It is likely that the increased exposure that these indigenous Brazilians have to infectious diseases that were previously unknown to them comes from more contact with nonnative populations, growing acculturation, and cultural practices that include scarification and tattooing. The presence of autoantibodies in these Brazilian Indians may be related to mechanisms of molecular mimicry with viral or bacterial antigens.

5014 downloads

14.

Lack of association between parenchymal neurocysticercosis and HLA Class I and Class II antigens
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Bompeixe, Eni Picchioni

; Costa, Sonia Maria Correia Machado da

; Arruda, Walter Oleschko

; Petzl-Erler, Maria Luiza

Genetics and Molecular Biology

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mar 1999, Volume 22 N. 1 Pages 7 - 11

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

A neurocisticercose, causada pelo cisticerco, a larva do cestóide Taenia solium, é a infecção mais comum do sistema nervoso central e constitui importante problema de saúde pública em muitos países. A sua prevalência na região de Curitiba, localizada no Estado do Paraná, foi estimada em 9%, situando-se entre as mais elevadas do mundo. Os aspectos genéticos de suscetibilidade à neurocisticercose (NCC) ainda são pouco conhecidos. Com o objetivo de investigar se genes do MHC influenciam a suscetibilidade individual à NCC, realizamos uma análise de associação caso-controle. Cinqüenta e dois pacientes caucasóides e 149 indivíduos-controle pareados foram tipados para antígenos dos locos HLA-A, B, C, DR e DQ. Todos os pacientes apresentavam tomografia computadorizada e sinais clínicos compatíveis com NCC parenquimatosa. Imunofluorescência indireta do líquido céfalo-raquidiano mostrou que 19 (37%) pacientes apresentavam anticorpos anti-cisticerco com títulos <FONT FACE="Symbol">³</font>1:10. As freqüências de especificidades HLA no grupo total de pacientes e no subgrupo de pacientes que apresentaram anticorpos no líquor foram comparadas àquelas do grupo controle. Nenhuma diferença significativa foi detectada. Esses resultados não sustentam a hipótese de participação dos genes HLA na suscetibilidade à neurocisticercose parenquimatosa.

Neurocysticercosis, caused by encysted larvae of the tapeworm Taenia solium, is the most common infection of the central nervous system and a major public health problem in many countries. Prevalence in the region of Curitiba, located in the southern Brazilian State of Paraná, is one of the highest in the world. The genetics of host susceptibility to neurocysticercosis (NCC) is still obscure. To investigate if major histocompatibility complex (MHC) genes influence individual susceptibility to NCC, we performed a case-control association analysis. Fifty-two Caucasoid patients and 149 matched controls were typed for antigens of the HLA-A, B, C, DR and DQ loci. All patients had computerized tomography and clinical features compatible with parenchymal NCC. Indirect immunofluorescence of cerebrospinal fluid showed that 19 (37%) of the patients presented anti-cysticercus antibodies at titers <FONT FACE="Symbol">³</font> 1:10. Frequencies of HLA specificities in the whole group of patients and in the subgroup with antibodies in cerebrospinal fluid were compared to those of the control group. No significant difference was found. These results do not support the hypothesis of HLA gene participation in susceptibility to parenchymal neurocysticercosis.

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