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Id: biblio-891431
Autor: Amaro, Aline; Guerra, Ana Beatriz; Defino, Matheus Pippa; Vieira, Luiz Angelo; Peluso, Carla; Bianco, Bianca; Rodrigues, Luciano Miller Reis.
Título: Vascular endothelial growth factor gene variations as a risk predictor in disc degeneration / Variação do gene fator de crescimento endotelial vascular como preditor de risco para a degeneração discal
Fonte: Einstein (Säo Paulo);15(4):403-408, Oct.-Dec. 2017. tab.
Idioma: en.
Projeto: Fundação de Amparo a Pesquisa do Estado de São Paulo (FAPESP).
Resumo: ABSTRACT Objective: To evaluate the frequency of polymorphisms in the vascular endothelial growth factor (VEGF) gene, as well as to identify a potential risk haplotype among the polymorphic regions in this gene in patients with disc degeneration and in the Control Group. Methods: This study analyzed a total of 217 individuals distributed into the Disc Degeneration and Control Groups. Peripheral blood was collected from all patients to detect VEGF gene polymorphisms identified by qPCR (rs699947, rs1570360, rs2010963, rs833061 and rs3025039). All patients presenting disc degeneration had the confirmation by nuclear magnetic resonance test and were rated according to disc degeneration level. Results: All polymorphisms were in Hardy- Weinberg equilibrium (p>0.05) in the studied population. The genotypic frequency for Disc Degeneration and Control Group were rs699947 p = 0.475, rs1570360 p = 0.862, rs2010963 p = 0.823, rs833061 p=0.596 and rs3025039 p=0.230. In haplotype analysis, the compositions CAGGC (p=0.094) and CCGGC (p=0.054) stood out. Conclusion: The correlation between VEGF gene polymorphism as a risk predictor for disc degeneration was negative in the studied population. However, the VEGF gene has a large polymorphic region, and it is activated by various catabolic and metabolic factors in the disc degeneration process, which has not been fully elucidated.

RESUMO Objetivo: Avaliar a frequência dos polimorfismos no gene fator de crescimento endotelial vascular (VEGF), bem como identificar potencial haplótipo de risco entre as regiões polimórficas deste gene em pacientes com degeneração discal e em Grupo Controle. Métodos: Este estudo analisou 217 pacientes distribuídos nos Grupos Degeneração Discal e Grupo Controle. Foi coletado sangue periférico de todos os pacientes para a detecção dos polimorfismos do gene VEGF identificados por qPCR (rs699947, rs1570360, rs2010963, rs833061 e rs3025039). Todos os pacientes que apresentaram degeneração discal tiveram a confirmação por meio de ressonância magnética nuclear e avaliação do nível de degeneração do disco. Resultados: Todos os polimorfismos foram encontrados no equilíbrio de Hardy-Weinberg (p>0,05) na população estudada. A frequência genotípica para o Grupo Degeneração de Disco e do Grupo Controle foi rs699947 p=0,475, rs1570360 p=0,862, rs2010963 p=0,823, rs833061 p=0,596 e rs3025039 p=0,230. Para a análise do haplótipo, destacaram-se as composições CAGGC (p=0,094) e CCGGC (p=0,054). Conclusão: A correlação entre os polimorfismos do gene VEGF como preditor de risco para degeneração discal foi negativa na população estudada. No entanto, o VEGF possui grande região polimórfica, ativada por vários fatores catabólicos e metabólicos no processo de degeneração discal, que não está completamente elucidado.
Descritores: Polimorfismo Genético
Haplótipos
Fatores de Crescimento do Endotélio Vascular/genética
Degeneração do Disco Intervertebral/genética
-Variação Genética
Imageamento por Ressonância Magnética
Estudos de Casos e Controles
Medição de Risco
Fatores de Crescimento do Endotélio Vascular/fisiologia
Alelos
Reação em Cadeia da Polimerase em Tempo Real/métodos
Frequência do Gene
Genótipo
Pessoa de Meia-Idade
Limites: Humanos
Masculino
Feminino
Adulto
Adulto Jovem
Responsável: BR1.1 - BIREME


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Id: biblio-984373
Autor: Dutra, Valeria de Freitas; Bub, Carolina Bonet; Costa, Thiago Henrique; Santos, Leandro Dinalli; Bastos, Eduardo Peres; Aravechia, Maria Giselda; Kutner, José Mauro.
Título: Allele and haplotype frequencies of human platelet and leukocyte antigens in platelet donors / Frequência alélica e haplotípica dos antígenos plaquetários e leucocitários humanos em doadores de plaquetas
Fonte: Einstein (Säo Paulo);17(1):eAO4477, 2019. tab, graf.
Idioma: en.
Resumo: ABSTRACT Objective To described the allele and haplotype frequencies of human leukocyte antigen genes at the -A, -B loci and human platelet antigen genes for human platelet antigen systems 1 to 9, 11 and 15 in blood. Methods We included 867 healthy unrelated volunteer donors who donated platelets between January 2011 and December 2014. Microarray genotyping was performed using a BeadChip microarray. Medium resolution typing of the human leukocyte antigen at loci A and B was carried out using sequence-specific oligonucleotide probe hybridization. We used multivariate analysis and our human leukocyte antigen population was compared to data from the United States national bone marrow donor program. Human platelet antigen results were compared to a literature review and data from around the world. Results Our human leukocyte antigen haplotype results were more similar to those of hispanics, followed by caucasians. Likewise, our human platelet antigen sample is more similar to those of Argentina, Rio Grande do Sul and Italy. Conclusion This was the first article that discusses human platelet antigen and human leukocyte antigen data together. Rare genotypes or antibody associations can make patient management difficult. A blood bank with genotyped donors allows for optimal transfusion and can contribute to better results. Our information can serve as basis for a database of platelet antigen polymorphisms.

RESUMO Objetivo Descrever as frequências alélicas e haplotípicas de genes dos antígenos leucocitários humanos nos loci -A,- B e dos antígenos plaquetários humanos para os sistemas HPA-1 a 9, 11 e 15. Métodos Foram incluídos 867 doadores voluntários, saudáveis, não relacionados, que doaram plaquetas por aférese entre janeiro de 2011 e dezembro de 2014. A genotipagem foi realizada usando microarray BeadChip. A tipificação de resolução intermediária dos antígenos leucocitários humanos loci A e B foi realizada por meio de hibridização com sonda para oligonucleotídeos por sequência específica. Utilizamos análises multivariadas e o antígeno leucocitário humano de nossa população foi comparado com a do programa nacional de doadores de medula óssea norte-americano. Já os resultados dos antígenos plaquetários humanos foram comparados à revisão da literatura e a dados de populações de outros países. Resultados Os resultados do haplótipo de antígenos leucocitários humanos são mais parecidos com os dos hispânicos, seguidos dos caucasianos. Igualmente, a amostra de antígenos plaquetários humanos foi mais semelhante às da Argentina, do Rio Grande do Sul e da Itália. Conclusão Este foi o primeiro artigo a discutir antígenos plaquetários e leucocitários humanos simultaneamente. Genótipos raros ou associações de anticorpos podem dificultar o manejo clínico do paciente. Um banco de sangue com doadores genotipados permite um melhor resultado e transfusão possíveis. Estas informações podem servir de base para um banco de dados sobre polimorfismos de antígenos plaquetários.
Descritores: Polimorfismo Genético/genética
Haplótipos/genética
Antígenos de Plaquetas Humanas/genética
Alelos
Técnicas de Genotipagem/métodos
Antígenos HLA/genética
-Doadores de Tecidos
Transfusão de Plaquetas
Frequência do Gene/genética
Genótipo
Limites: Humanos
Masculino
Feminino
Adolescente
Adulto
Pessoa de Meia-Idade
Idoso
Responsável: BR1.1 - BIREME


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Id: biblio-1249204
Autor: Cañizares-Martínez, Mayra Alejandra; Parra-Bracamonte, Gaspar Manuel; Segura-Correa, José Candelario; Magaña-Monforte, Juan Gabriel.
Título: Effect of Leptin, Pituitary Transcription Factor and Luteinizing Hormone Receptor Genes Polymorphisms on Reproductive Traits and Milk Yield in Holstein Cattle
Fonte: Braz. arch. biol. technol;64:e21190643, 2021. tab, graf.
Idioma: en.
Resumo: Abstract The aim of this study was to estimate allelic and genotypic frequencies of markers in the leptin (LEP), pituitary transcription factor (PIT-1) and luteinizing hormone receptor (LHR) genes and evaluate their effects on reproductive traits and milk yield of Holstein cattle. Data from 147 cows from department of Francisco Morazán, Honduras, were collected and PCR-Restriction Fragment Length Polymorphism (RFLP) assays were performed to characterize the PIT-1-HinfI, LEP- A59V and LHR-rs41256848 polymorphisms. To estimate the effect of genotypes on reproductive traits and milk yield fixed and mixed linear models were fitted. The frequencies of the genotypes CC, CT and TT of A59V, AA, AB and BB of HinfI, and CC, CG and GG of rs41256848 were 0.46, 0.33 and, 0.21; 0.09, 0.32 and 0.58; and 0.37, 0.61 and 0.02, respectively. The genotypes of LEP and LHR showed deviations from Hardy-Weinberg equilibrium. The A59V polymorphism was significantly associated with the calving to conception interval (CCI) (p=0.01), being the C allele favorable. The HinfI and rs41256848 polymorphism were significantly associated (p=0.08 and p=0.04) with age to first calving (AFC), being the A and G the alleles favorable associated, respectively. The results suggest that LEP, PIT and LHR polymorphisms can probably act as candidate to be used in marker-assisted selection for AFC and CCI traits.
Descritores: Hormônio Luteinizante
Leptina
Perfil Genético
Frequência do Gene/fisiologia
-Reprodução
Bovinos
Reação em Cadeia da Polimerase/instrumentação
Responsável: BR1.1 - BIREME


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Id: biblio-1134445
Autor: Oliveira, Glauber Lameira; Oliveira, Talita Adão Perini; Souza, Ramon Pereira; Cabral, Soraia Izabel Corrêa; Valentim-Silva, João Rafael; Gorla, José Irineu; Fernandes-Filho, José.
Título: Frecuencia del polimorfismo genético ACTN3 R577X y ECA I/D en atletas ciegos de fútbol 5 / Frequency of genetic polymorphism ACTN3 R577X and ACE I/D in blind athletes of 5-a-side football
Fonte: Int. j. morphol;38(5):1336-1340, oct. 2020. tab.
Idioma: es.
Resumo: RESUMEN: El objetivo de este estudio fue describir la frecuencia genotípica y alélica del ACTN3 R577X y ECA I/D en atletas ciegos de fútbol 5. Se incluyó una metodología descriptiva con una muestra de 63 deportistas ciegos (28,0±5,8 años), todos varones, de equipos de fútbol 5 de alto rendimiento. El polimorfismo se determinó mediante la reacción en cadena de la polimerasa en tiempo real (RT-PCR). La estadística fue descriptiva realizada a partir de las medidas de frecuencia de genotipos y alelos. La frecuencia genotípica de la ACTN3 en los deportistas presentó la siguiente distribución: el 28,6 % con genotipo RR, el 54 % con RX y el 17,4 % con XX y frecuencia alélica del 55,6 % para el alelo R y del 44,4 % para el alelo X. En cuanto a la ECA I/D, la frecuencia genotípica fue del 63,5 % para el genotipo ID, del 22,2 % para el DD y del 14,3 % para el II. La frecuencia alélica presentó prevalencia del alelo D con el 53,9 %. El estudio constató una predominancia de los genotipos y alelos representativos de las modalidades de fuerza y velocidad para ACTN3 R577X y ECA I/D de atletas de fútbol 5.

SUMMARY: The aim of this study was to describe the genotypic and allele frequency of ACTN3 R577X and ACE I/D in blind athletes of 5-a-side football performance. A descriptive methodology was included with a sample of 63 blind male athletes (28.0 ±5.8 years) of football teams with a 5-a-side performance rating. The polymorphism was determined by means by of real-time Polymerase Chain Reaction (rt-PCR). Statistics were descriptive based on the measures of frequency of genotypes and alleles. The genotypic frequency of ACTN3 by the athletes presented the following distribution: 28.6 % with RR genotype, 54 % with RX and 17.4 % XX and allele frequency of 55.6 % for the R allele and 44.4 % for the X allele. As for ACE I/D, the genotype frequency was 63.5 % for genotype ID, 22.2 % for DD and 14.3 % for II. The allele frequency showed a predominance of the D allele with 53.9 %. The study found for ACTN3 R577X and ACE I/ D of blind athletes of 5-a-side football, a predominance of genotypes and alleles representative of strength and speed modalities.
Descritores: Futebol
Transtornos da Visão/genética
Paratletas
-Polimorfismo Genético
Actinina/genética
Cegueira/genética
Reação em Cadeia da Polimerase
Peptidil Dipeptidase A/genética
Frequência do Gene
Genótipo
Limites: Humanos
Masculino
Adulto
Responsável: CL1.1 - Biblioteca Central


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Id: biblio-989646
Autor: Ozgen, Merih; Cosan, Didem Turgut; Doganer, Fulya; Soyocak, Ahu; Armagan, Onur; Kuzgun, Selen; Aydogan, Ayse Merve; Gunes, Hasan Veysi; Degirmenci, Irfan; Mutlu, Fezan.
Título: Is there any association between osteoporotic vertebral fracture and vitamin K epoxide reductase complex subunit-1 polymorphism in Turkish society? A pilot study
Fonte: Clinics;74:e739, 2019. tab.
Idioma: en.
Projeto: This study was supported by the Research Foundation of Eskisehir Osmangazi University Turkey.
Resumo: OBJECTIVE: In this study, the relationship between osteoporotic vertebral fractures and 9041 Guanine/Adenine and 3673 Guanine/Adenine polymorphisms related to the vitamin K epoxide reductase complex subunit-1 (VKORC1) gene in postmenopausal women with osteoporosis was investigated. METHOD: DNA was isolated from blood samples collected from 150 women with postmenopausal osteoporosis. Genotyping of the two polymorphic regions (9041 Guanine/Adenine and 3673 Guanine/Adenine) in VKORC1 was performed using polymerase chain reaction-restriction fragment length polymorphism analysis. The presence of radiographic fractures among the 150 patients was ascertained by using the Genant method. RESULT: At least one fracture was detected in 98 patients, and no fracture was observed in 52 patients on radiological images. We found no association between the 9041 Guanine/Adenine (p=0.283) and 3673 Guanine/Adenine (p=0.232) polymorphisms of the VKORC1 gene and the development of secondary postosteoporotic fractures in our study. CONCLUSION: There was no relationship between osteoporotic vertebral fracture and VKORC1 gene polymorphism in a postmenopausal Turkish population.
Descritores: Polimorfismo Genético/genética
Osteoporose Pós-Menopausa/genética
Fraturas da Coluna Vertebral/genética
Fraturas por Osteoporose/genética
Vitamina K Epóxido Redutases/genética
-Turquia
Densidade Óssea
Projetos Piloto
Estudos Retrospectivos
Estudos de Associação Genética
Frequência do Gene/genética
Limites: Humanos
Feminino
Pessoa de Meia-Idade
Idoso
Responsável: BR1.1 - BIREME


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Id: biblio-896975
Autor: Eskandari, Ebrahim; Metanat, Malihe; Pahlevani, Elham; Nakhzari-Khodakheir, Tooba.
Título: Association between TGFß1 polymorphisms and chronic hepatitis B infection in an Iranian population
Fonte: Rev. Soc. Bras. Med. Trop;50(3):301-308, May-June 2017. tab.
Idioma: en.
Resumo: Abstract INTRODUCTION: Transforming growth factor-beta 1 (TGFβ1) is a potent suppressive cytokine that contributes to chronic hepatitis B (CHB) infection. Disparities in TGFβ1 production among individuals have been attributed to TGFβ1 genetic polymorphisms. We examined whether three putative polymorphisms in TGFβ1[-509 C/T (rs1800469), +869 C/T (rs1800470), and +11929 C/T (rs1800472)]are associated with CHB infection in a South-Eastern Iranian population. METHODS: In total, 341 subjects were recruited, including 178 patients with CHB and 163 healthy individuals as controls. Genotyping of the three TGFβ1 SNPs was performed by tetra amplification refractory mutation system-PCR. RESULTS: TheTGFβ1 +869 TT vs.CC genotype in codominant (OR=0.445, p=0.012) and TT vs. TC+CC in the recessive (OR=0.439, p=0.003) model as well as the variant allele T vs. C(OR=0.714, p=0.038) were associated with lower CHB infection risk. However, the +11929 C/T polymorphism was associated with increased CHB risk, and the CT vs. CC genotype (OR=2.77, P=0.001) and T variant allele (OR=2.53, P=0.002) were risk factors for CHB. Furthermore, TTT (+869/-509/+11929) and CCC haplotypes were risk and protective factors for CHB, respectively. We found no significant association between viral DNA load and TGFβ1 genotype or hepatic enzyme levels (p >0.05). CONCLUSIONS: Results indicated that the TGFβ1+869TT genotype and T allele were protective factors, whereas the +11929 CT genotype and T allele were risk factors for CHB infection.
Descritores: Polimorfismo Genético
Proteínas da Matriz Extracelular/genética
Fator de Crescimento Transformador beta/genética
Hepatite B Crônica/genética
Predisposição Genética para Doença
Fator de Crescimento Transformador beta1/genética
-Estudos de Casos e Controles
Frequência do Gene
Genótipo
Irã (Geográfico)
Pessoa de Meia-Idade
Limites: Humanos
Masculino
Feminino
Adolescente
Adulto
Idoso
Adulto Jovem
Responsável: BR1.1 - BIREME


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Id: biblio-1057271
Autor: Wang, Haidong; Wang, Chao; Han, Wenxiu; Geng, Chunmei; Chen, Dan; Wu, Bin; Zhang, Jun; Wang, Changshui; Jiang, Pei.
Título: Association of leptin and leptin receptor polymorphisms with coronary artery disease in a North Chinese Han population
Fonte: Rev. Soc. Bras. Med. Trop;53:e20190388, 2020. tab.
Idioma: en.
Projeto: Taishan Scholar Program of Shandong Province; . Foundation of Clinical Pharmacy of the Chinese Medical Association; . Relying on Science and Education of Lianyungang.
Resumo: Abstract INTRODUCTION: Leptin (LEP) is a peptide hormone that acts via leptin receptor (LEPR) binding. Genetic evidence from different human populations has implicated LEP/LEPR in the pathogenesis of coronary artery disease (CAD), and suggests that certain LEP/LEPR gene polymorphisms may increase the risk of CAD. The aim of this study was to assess two single nucleotide polymorphisms (SNPs) in LEP genes (rs2167270 and rs7799039) and two in LEPR genes (rs6588147, rs1137100) for association with CAD. METHODS: We enrolled 271 North Chinese Han CAD patients, and 113 healthy age- and sex-matched controls. Genomic DNA was extracted from whole blood, and the four SNPs were assessed using a MassArray system. RESULTS: The G allele frequency at rs2167270 was significantly higher among CAD cases than among controls. The AG genotype at rs7799039 was associated with a significantly decreased risk of CAD unlike the AA genotype used as the reference. The A allele was significantly associated with the CAD patient group. Interestingly, statistically significant differences in genotype and allele frequency at LEP rs2167270 and rs7799039 existed among females but not among males. CONCLUSIONS: The current study detected a significant association between genetic variations at LEP rs7799039 and rs2167270 and the risk of CAD in a north Chinese population, and revealed that LEP rs2167270 and rs7799039 gene polymorphisms might act as predisposing factors for CAD.
Descritores: Doença da Artéria Coronariana/genética
Leptina/genética
Receptores para Leptina/genética
-Índice de Massa Corporal
Estudos de Casos e Controles
Fatores de Risco
Predisposição Genética para Doença
Polimorfismo de Nucleotídeo Único/genética
Frequência do Gene
Genótipo
Pessoa de Meia-Idade
Limites: Humanos
Masculino
Idoso
Responsável: BR1.1 - BIREME


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Id: lil-784182
Autor: García, S; Chavira-Hernández, G; Gallegos-Arreola, M P; Dávila-Maldonado, L; García Martínez, F; Montes Almanza, L A; Palma-Flores, C; Mondragón-Terán, P; Alcaraz Estrada, S L; López-Hernández, L B.
Título: The rs3857059 variant of the SNCA gene is associated with Parkinson's disease in Mexican Mestizos / A variante rs3857059 do gene SNCA é associada à doença de Parkinson em mestiços mexicanos
Fonte: Arq. neuropsiquiatr;74(6):445-449, June 2016. tab.
Idioma: en.
Resumo: ABSTRACT Among the candidate genes for Parkinson’s disease (PD), SNCA has replicated association in different populations. Besides other known mutations in the SNCA gene, the rs3857059 variant has also been linked to various neurodegenerative disorders. Therefore, the aim of the present study was to search for association of this variant and sporadic PD in Mexican Mestizo patients. A case-control study was performed including 241 individuals, 106 patients, and 135 healthy controls. Genotyping was performed using real-time PCR. The rs3857059 variant demonstrated an association with PD in Mexican Mestizos (OR = 2.40, CI, 1.1 to 5.1, p = 0.02) under the recessive model. In addition, a gender effect was found for the GG genotype in females (OR = 1.31, CI, 1.01 to 1.7, p = 0.037). This is the first study to confirm an association of the rs3857059 variant with PD and also to show a gender effect. Our data contribute to the elucidation of the link between rs3857059 and susceptibility to PD observed in the Mexican Mestizo population.

RESUMO Entre genes candidatos para a doença de Parkinson (PD), SNCA foi replicado em diferentes populações. Além de outras mutações conhecidas no gene SNCA, a variante rs3857059 também tem sido associada a várias doenças neurodegenerativas. Portanto, o objetivo do presente estudo foi o de procurar variante de associação e PD esporádica em pacientes mestiços mexicanos. Um estudo de caso-controle foi executado, incluindo 241 indivíduos, 106 pacientes e 135 controles saudáveis. A genotipagem foi realizada utilizando PCR em tempo real. A variante rs3857059 se mostrou associada a PD em mexicano-mestiços (OR = 2,40, IC 1,1-5,1, p = 0,02) sob o modelo recessivo. Além disso, um efeito de gênero foi encontrado para o genótipo GG no sexo feminino (OR = 1,31, CI, 1,01-1,7, p = 0,037). Este é o primeiro estudo que confirma associação da variante rs3857059 para a PD e também um efeito de gênero. Nossos dados contribuem para elucidar suscetibilidade à PD observada na população mexicana-mestiça.
Descritores: Doença de Parkinson/genética
alfa-Sinucleína/genética
Mutação/genética
-Doença de Parkinson/etnologia
Estudos de Casos e Controles
Predisposição Genética para Doença
Polimorfismo de Nucleotídeo Único
Reação em Cadeia da Polimerase em Tempo Real
Frequência do Gene
Genótipo
México/etnologia
Limites: Humanos
Masculino
Feminino
Adulto
Pessoa de Meia-Idade
Idoso
Responsável: BR1.1 - BIREME


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Id: biblio-1100921
Autor: Verdugo, Ricardo A; Genova, Alex Di; Herrera, Luisa; Moraga, Mauricio; Acuña, Mónica; Berríos, Soledad; Llop, Elena; Valenzuela, Carlos Y; Bustamante, M. Leonor; Digman, Dayhana; Symon, Adriana; Asenjo, Soledad; López, Pamela; Blanco, Alejandro; Suazo, José; Barozet, Emmanuelle; Caba, Fresia; Villalón, Marcelo; Alvarado, Sergio; Cáceres, Dante; Salgado, Katherine; Portales, Pilar; Moreno-Estrada, Andrés; Gignoux, Christopher R; Sandoval, Karla; Bustamante, Carlos D; Eng, Celeste; Huntsman, Scott; Burchard, Esteban G; Loira, Nicolás; Maass, Alejandro; Cifuentes, Lucía.
Título: Development of a small panel of SNPs to infer ancestry in Chileans that distinguishes Aymara and Mapuche components
Fonte: Biol. Res;53:15, 2020. tab, graf.
Idioma: en.
Projeto: FONDEF.
Resumo: BACKGROUND: Current South American populations trace their origins mainly to three continental ancestries, i.e. European, Amerindian and African. Individual variation in relative proportions of each of these ancestries may be confounded with socio-economic factors due to population stratification. Therefore, ancestry is a potential confounder variable that should be considered in epidemiologic studies and in public health plans. However, there are few studies that have assessed the ancestry of the current admixed Chilean population. This is partly due to the high cost of genome-scale technologies commonly used to estimate ancestry. In this study we have designed a small panel of SNPs to accurately assess ancestry in the largest sampling to date of the Chilean mestizo population (n = 3349) from eight cities. Our panel is also able to distinguish between the two main Amerindian components of Chileans: Aymara from the north and Mapuche from the south. RESULTS: A panel of 150 ancestry-informative markers (AIMs) of SNP type was selected to maximize ancestry informativeness and genome coverage. Of these, 147 were successfully genotyped by KASPar assays in 2843 samples, with an average missing rate of 0.012, and a 0.95 concordance with microarray data. The ancestries estimated with the panel of AIMs had relative high correlations (0.88 for European, 0.91 for Amerindian, 0.70 for Aymara, and 0.68 for Mapuche components) with those obtained with AXIOM LAT1 array. The country's average ancestry was 0.53 ± 0.14 European, 0.04 ± 0.04 African, and 0.42 ± 0.14 Amerindian, disaggregated into 0.18 ± 0.15 Aymara and 0.25 ± 0.13 Mapuche. However, Mapuche ancestry was highest in the south (40.03%) and Aymara in the north (35.61%) as expected from the historical location of these ethnic groups. We make our results available through an online app and demonstrate how it can be used to adjust for ancestry when testing association between incidence of a disease and nongenetic risk factors. CONCLUSIONS: We have conducted the most extensive sampling, across many different cities, of current Chilean population. Ancestry varied significantly by latitude and human development. The panel of AIMs is available to the community for estimating ancestry at low cost in Chileans and other populations with similar ancestry.
Descritores: Grupos Étnicos/genética
Índios Sul-Americanos/genética
Polimorfismo de Nucleotídeo Único/genética
Grupos Populacionais/genética
Genética Populacional/organização & administração
-Saliva
Marcadores Genéticos/genética
Chile
Filogeografia
Técnicas de Genotipagem
Frequência do Gene/genética
Genótipo
Limites: Humanos
Masculino
Feminino
Responsável: CL1.1 - Biblioteca Central


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Texto completo SciELO Brasil
Werneck, Lineu Cesar
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Id: lil-792508
Autor: Werneck, Lineu Cesar; Lorenzoni, Paulo José; Arndt, Raquel Cristina; Kay, Cláudia Suemi Kamoi; Scola, Rosana Herminia.
Título: The immunogenetics of multiple sclerosis. The frequency of HLA-alleles class 1 and 2 is lower in Southern Brazil than in the European population / Imunogenética na esclerose múltipla. A frequência dos alelos HLA classe 1 e 2 no sul do Brasil são menores que da população Europeia
Fonte: Arq. neuropsiquiatr;74(8):607-616, Aug. 2016. tab, graf.
Idioma: en.
Resumo: ABSTRACT Objective To study the HLA of class 1and 2 in a multiple sclerosis (MS) population to verify the susceptibility for the disease in the Southern Brazil. Methods We analyzed patients with MS and controls, by direct sequencing of the genes related to HLA DRB1, DQB1, DPB1, A, B and C alleles with high resolution techniques. Results We found a lower frequency of all HLA alleles class 1 and 2 in MS and controls comparing to the European population. Several alleles had statistical correlation, but after Bonferroni correction, the only allele with significance was the HLA-DQB1*02:03, which has a positive association with MS. Conclusions Our data have different frequency of HLA-alleles than the previous published papers in the Southeast Brazil and European population, possible due to several ethnic backgrounds.

RESUMO Objetivo Estudo do HLA classes 1 e 2 em pacientes com esclerose múltipla (EM) a fim de verificar a susceptibilidade para a doença em uma população do Sul do Brasil. Métodos Foram analisados por sequenciamento direto de alta resolução os genes relacionados com os HLA DRB1, DQB1, DPB1, A, B e C em casos de EM comparados com uma população controle normal. Resultados Foi encontrado uma frequência menor dos alelos dos HLA classe 1 e 2 nos casos de EM e controles quando comparado com a população Europeia. Diversos alelos mostraram correlação estatística, mas depois da correção de Bonferroni, somente o alelo do HLA-DQB1*02:03 foi positivo para a EM. Conclusões Encontramos frequência diferente dos alelos do HLA relatados previamente nos Sudeste do Brasil e Europeus, possivelmente devido a origem étnica diferente da população estuda.
Descritores: Antígenos de Histocompatibilidade Classe I/genética
Antígenos de Histocompatibilidade Classe II/genética
Predisposição Genética para Doença/genética
Esclerose Múltipla/genética
-Brasil
Estudos de Casos e Controles
Grupo com Ancestrais do Continente Europeu
Alelos
Fenômenos Imunogenéticos
Frequência do Gene
Genótipo
Esclerose Múltipla/etnologia
Limites: Humanos
Masculino
Feminino
Adolescente
Adulto
Pessoa de Meia-Idade
Adulto Jovem
Responsável: BR1.1 - BIREME



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