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Pesquisa : G05.330 [Categoria DeCS]
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Id: biblio-887145
Autor: Aly, Dalia Gamal; Salem, Samar Abdallah; Amr, Khalda Sayed; El-Hamid, Mahmoud Fawzy Abd.
Título: A study of the association of glutathione S-transferase M1/T1 polymorphisms with susceptibility to vitiligo in Egyptian patients
Fonte: An. bras. dermatol;93(1):54-58, Jan.-Feb. 2018. tab, graf.
Idioma: en.
Resumo: Abstract: Background: The association of glutathione S-transferases M1/T1 (GSTM1/T1) null polymorphisms with vitiligo was proposed in several studies including two Egyptian studies with contradictory results. Objective: The aim here was to assess the association between GSTM1/T1 null polymorphisms and the susceptibility to vitiligo in a larger sample of Egyptian patients with generalized vitiligo. Methods: This study included 122 vitiligo patients and 200 healthy controls that were age, and gender matched. Assessment of GSTM1/T1 gene polymorphisms was done using a multiplex polymerase chain reaction (PCR). Results: Increased odds of generalized vitiligo was observed with the null genotypes of GSTM1 and GSTT1 polymorphisms (P<0.05). Controls with GSTM1 null/GSTT1+ heterozygosis presented with a 2.97 odds protection from having generalized vitiligo (OR=2.97, 95%CI=1.1-7.7) (P=0.02) compared with patients. Study Limitations: Small sample size of patients. Conclusions: This study showed a significant trend towards an association with the combination of the GSTM1/GSTT1 double null polymorphism and generalized vitiligo. Individuals with GSTM1 null/GSTT1+ heterozygosis have a 2.97 odds protection from having generalized vitiligo compared with patients. It was is the first time, to our knowledge, that such an association has been reported.
Descritores: Polimorfismo Genético/genética
Vitiligo/genética
Predisposição Genética para Doença/genética
Glutationa Transferase/genética
-Estudos de Casos e Controles
Egito
Frequência do Gene
Genótipo
Limites: Seres Humanos
Masculino
Feminino
Criança
Adolescente
Adulto
Meia-Idade
Idoso
Adulto Jovem
Responsável: BR1.1 - BIREME


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Id: biblio-1038308
Autor: Ataei, Mitra; Behfarjam, Farinaz; Jadali, Zohreh.
Título: TIM-3 genetic variants and risk of Behçet disease in the Iranian population
Fonte: An. bras. dermatol;94(4):429-433, July-Aug. 2019. tab.
Idioma: en.
Resumo: Abstract: Background: Behçet disease is a prototypical systemic autoimmune disease, caused by a complex interplay between environmental and genetic factors. The transmembrane immunoglobulin and mucin domain-3 (TIM-3) is a distinct member of the TIM family that is preferentially expressed on Th1 cells and plays a role in Th1-mediated autoimmune or inflammatory diseases, such as Behçet disease. Objective: The aim of this study was to test the potential association between TIM-3 gene polymorphisms and Behçet disease. Methods: Two single-nucleotide polymorphisms of TIM-3 (rs9313439 and rs10515746) were genotyped in 212 patients with Behçet disease and 200 healthy controls. Typing of the polymorphisms was performed using multiplex PCR amplification. Results: There were no significant differences in allele and genotype frequencies between the Behçet disease patients and controls who were successfully genotyped. Similar results were also found after stratification by gender, age, or clinical features. Study limitations: Lack of studies on various racial or ethnic groups and small sample size. Conclusion: This study failed to demonstrate any association between the tested TIM-3 polymorphisms and Behçet disease.
Descritores: Síndrome de Behçet/genética
Polimorfismo de Nucleotídeo Único
Receptor Celular 2 do Vírus da Hepatite A/genética
-Estudos de Casos e Controles
Modelos Logísticos
Fatores de Risco
Medição de Risco
Alelos
Estudos de Associação Genética
Reação em Cadeia da Polimerase Multiplex
Frequência do Gene
Irã (Geográfico)
Limites: Seres Humanos
Masculino
Feminino
Adulto
Responsável: BR1.1 - BIREME


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Id: biblio-837985
Autor: Egashira, Sho; Jinnin, Masatoshi; Harada, Miho; Masuguchi, Shinichi; Fukushima, Satoshi; Ihn, Hironobu.
Título: Exome sequence analysis of Kaposiform hemangioendothelioma: identification of putative driver mutations
Fonte: An. bras. dermatol;91(6):748-753, Nov.-Dec. 2016. tab, graf.
Idioma: en.
Resumo: Abstract BACKGROUND: Kaposiform hemangioendothelioma is a rare, intermediate, malignant tumor. The tumor's etiology remains unknown and there are no specific treatments. OBJECTIVE: In this study, we performed exome sequencing using DNA from a Kaposiform hemangioendothelioma patient, and found putative candidates for the responsible mutations. METHOD: The genomic DNA for exome sequencing was obtained from the tumor tissue and matched normal tissue from the same individual. Exome sequencing was performed on HiSeq2000 sequencer platform. RESULTS: Among oncogenes, germline missense single nucleotide variants were observed in the TP53 and APC genes in both the tumor and normal tissue. As tumor-specific somatic mutations, we identified 81 candidate genes, including 4 nonsense changes, 68 missense changes and 9 insertions/deletions. The mutations in ITGB2, IL-32 and DIDO1 were included in them. CONCLUSION: This is a pilot study, and future analysis with more patients is needed to clarify: the detailed pathogenesis of this tumor, the novel diagnostic methods by detecting specific mutations, and the new therapeutic strategies targeting the mutation.
Descritores: Mutação de Sentido Incorreto
Síndrome de Kasabach-Merritt/genética
Síndrome de Kasabach-Merritt/patologia
Exoma
Hemangioendotelioma/genética
Hemangioendotelioma/patologia
-Valores de Referência
Análise Mutacional de DNA
Imagem por Ressonância Magnética
Genes p53/genética
Genes APC
Tela Subcutânea/patologia
Estudos de Associação Genética
Frequência do Gene
Limites: Seres Humanos
Masculino
Pré-Escolar
Tipo de Publ: Relatos de Casos
Responsável: BR1.1 - BIREME


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Id: lil-787286
Autor: Barbosa, Ângela Marques; Prestes-Carneiro, Luiz Euribel; Sobral, Aldri Roberta Sodoschi; Sakiyama, Marcelo Jun; Lemos, Bruna Cerávolo; Abreu, Marilda Aparecida Milanez Morgado de; Martos, Luciana Leite Crivelin; Moliterno, Ricardo Alberto.
Título: Lack of association between alopecia areata and HLA class I and II in a southeastern Brazilian population
Fonte: An. bras. dermatol;91(3):284-289tab.
Idioma: en.
Resumo: Abstract: Background: Alopecia areata (AA) is a common disorder of unknown etiology that affects approximately 0.7% to 3.8% of patients among the general population. Currently, genetic and autoimmune factors are emphasized as etiopathogenic. Studies linking Human Leukocyte Antigens (HLA) to AA have suggested that immunogenetic factors may play a role in the disease's onset/development. Objectives: To investigate an association between AA and HLA class I/II in white Brazilians. Methods: Patients and control groups comprised 33 and 112 individuals, respectively. DNA extraction was performed by column method with BioPur kit. Allele's classification was undertaken using the PCR-SSO technique. HLA frequencies were obtained through direct counting and subjected to comparison by means of the chi-square test. Results: Most patients were aged over 16, with no familial history, and developed partial AA, with no recurrent episodes. Patients showed a higher frequency of HLA-B*40, HLA-B*45, HLA-B*53 and HLA-C*04 compared with controls, although P was not significant after Bonferroni correction. Regarding HLA class II, only HLA-DRB1*07 revealed statistical significance; nevertheless, it featured more prominently in controls than patients (P=0.04; Pc=0.52; OR=0.29; 95%; CI=0.07 to 1.25). P was not significant after Bonferroni correction. Conclusions: The development of AA does not seem to be associated with HLA in white Brazilians, nor with susceptibility or resistance. The studies were carried out in populations with little or no miscegenation, unlike the Brazilian population in general, which could explain the inconsistency found.
Descritores: Antígenos de Histocompatibilidade Classe I/genética
Antígenos de Histocompatibilidade Classe II/genética
-Brasil
Antígenos de Histocompatibilidade Classe I/sangue
Antígenos HLA-B/genética
Antígenos HLA-B/sangue
Antígenos HLA-C/genética
Antígenos HLA-C/sangue
Antígenos de Histocompatibilidade Classe II/sangue
Estudos de Casos e Controles
Estudos Transversais
Grupo com Ancestrais do Continente Europeu
Alopecia em Áreas/genética
Alopecia em Áreas/imunologia
Cadeias HLA-DRB1/genética
Cadeias HLA-DRB1/sangue
Frequência do Gene/genética
Limites: Seres Humanos
Masculino
Feminino
Adolescente
Adulto
Meia-Idade
Adulto Jovem
Responsável: BR1.1 - BIREME


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Id: biblio-840299
Autor: Pabalan, Noel; Jarjanazi, Hamdi; Christofolini, Denise Maria; Bianco, Bianca; Barbosa, Caio Parente.
Título: Association of the protein tyrosine phosphatase non-receptor 22 polymorphism (PTPN22) with endometriosis: a meta-analysis / Associação do polimorfismo da proteína tirosina fosfatase não receptora 22 (PTPN22) com endometriose: uma metanálise
Fonte: Einstein (Säo Paulo);15(1):105-111, Jan.-Mar. 2017. tab, graf.
Idioma: en.
Resumo: ABSTRACT Objective To evaluate PTPN22 C1858T polymorphism and the risk of endometriosis. Methods A meta-analysis of 10 published case-control studies (from four articles), with a total sample of 971 cases and 1,181 controls, was performed. We estimated risk (odds ratio and 95% confidence intervals) of endometriosis associations with the C1858T polymorphism. Results A significant increased risk in all genetic models of the variant T allele with endometriosis (odds ratio: 3.14-5.55; p<0.00001-0.002) was found. The analysis without the study whose controls deviated from the Hardy-Weinberg equilibrium exacerbated these effects in the homozygous and recessive models (odds ratio: 7.19-9.45; p<0.00001-0.0002). In the Italian subgroup, a significant risk association was found in the homozygous and recessive models (odds ratio: 8.72-11.12; p=0.002). Conclusion The associations observed between PTPN22 (C1858T) and the risk of endometriosis suggest this polymorphism might be a useful susceptibility marker for this disease.

RESUMO Objetivo Avaliar o polimorfismo PTPN22 C1858T e o risco de endometriose. Métodos Foi realizada uma metanálise de 10 estudos caso-controle publicados (a partir de quatro artigos), com uma amostra total de 971 casos e 1.181 controles. O risco da associação da endometriose com o polimorfismo C1858T foi estimado em razão de chance e intervalo de confiança de 95%. Resultados Observou-se um aumento de risco significativo em todos os modelos genéticos com o alelo variante T e a endometriose (razão de chance: 3,14-5,55; p<0,00001-0,002). A análise sem incluir o estudo, em que os controles não estavam em equilíbrio de Hardy-Weinberg, mostrou aumento significativo nos modelos homozigotos e recessivos (razão de chance: 7,19-9,45; p<0,00001-0,0002). No subgrupo italiano, uma associação significativa foi encontrada considerando os modelos homozigoto e recessivo (razão de chance: 8,72-11,12; p=0,002). Conclusão As associações observadas entre PTPN22 (C1858T) e o risco de endometriose sugerem que este polimorfismo pode ser um marcador de suscetibilidade para a endometriose.
Descritores: Polimorfismo Genético
Endometriose/genética
Proteína Tirosina Fosfatase não Receptora Tipo 22/genética
-Estudos de Casos e Controles
Fatores de Risco
Medição de Risco
Estudos de Associação Genética
Frequência do Gene
Limites: Seres Humanos
Feminino
Responsável: BR1.1 - BIREME


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Id: lil-623621
Autor: Dujardin, J. P; La Fuente, C; Cardozo, L; Tibayrenc, M.
Título: Dispersing behaviour of T. infestans: evidence from a genetical study of field populations in Bolivia
Fonte: Mem. Inst. Oswaldo Cruz;83(supl.1):435-440, Nov. 1988. tab.
Idioma: en.
Conferência: Apresentado em: Annual Meeting on Basic Research in Chagas's disease, 15, Apresentado em: Meeting of the Brazilian Society of Protozoology4, Caxambu, 7-10 Nov. 1988.
Descritores: Triatoma/genética
Triatoma/parasitologia
Doença de Chagas/prevenção & controle
Doença de Chagas/transmissão
-Controle de Insetos
Frequência do Gene
Insetos Vetores/genética
Limites: Animais
Responsável: BR1.1 - BIREME


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Id: biblio-893673
Autor: Rafighdoost, Houshang; Hashemi, Mohammad; Danesh, Hiva; Bizhani, Fatemeh; Bahari, Gholamreza; Taheri, Mohsen.
Título: Association of single nucleotide polymorphisms in AXIN2, BMP4, and IRF6 with Non-Syndromic Cleft Lip with or without Cleft Palate in a sample of the southeast Iranian population
Fonte: J. appl. oral sci;25(6):650-656, Nov.-Dec. 2017. tab, graf.
Idioma: en.
Projeto: Zahedan University of Medical Sciences.
Resumo: Abstract Non-syndromic cleft lip with or without palate (NSCL/P) is a common congenital malformation worldwide, with complex etiology. It has been proposed that interaction of genes and environmental factors play a role in the predisposition to this disease. Objectives: The aim of this study was to examine the association between AXIN2 (axis inhibition protein 2) rs7224837, BMP4 (bone morphogenetic protein 4) rs17563, and IRF6 (interferon regulatory factor 6) rs861019 and 2235371 polymorphisms and NSCL/P in an Iranian population. Material and Methods: This case-control study was carried out on 132 unrelated NSCL/P patients and 156 healthy subjects. The variants were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: The findings suggest that BMP4 rs17563 polymorphism significantly decreased the risk of NSCL/P in codominant (OR=0.36, 95%CI=0.17-0.79, p=0.012, CT vs CC and OR=0.11, 95%CI=0.01-0.88, p = 0.019, TT vs CC), dominant (OR=0.30, 95%CI=0.15-0.62, p = 0.0007, CT+TT vs CC), recessive (OR=0.12, 95%CI=0.02-0.99, p = 0.023, TT vs CC+CT), overdominant (OR=0.39, 95%CI = 0.18-0.84, p=0.021, CT vs CC+TT), and allele (OR=0.28, 95%CI=0.15-0.55, p<0.0001, T vs C) inheritance models. Our findings did not support an association between AXIN2 rs7224837 and IRF6 rs861019 polymorphism and risk/protection of NSCL/P. The IRF6 2235371 variant was not polymorphic in our population. Conclusion: The results indicate that the BMP4 rs17563 variant is likely to confer a protective effect against the occurrence of NSCL/P in a sample of the southeast Iranian population.
Descritores: Fenda Labial/genética
Fissura Palatina/genética
Fatores Reguladores de Interferon/genética
Proteína Morfogenética Óssea 4/genética
Proteína Axina/genética
-Polimorfismo de Fragmento de Restrição
Estudos de Casos e Controles
Predisposição Genética para Doença
Polimorfismo de Nucleotídeo Único
Frequência do Gene
Genótipo
Irã (Geográfico)
Limites: Seres Humanos
Masculino
Feminino
Criança
Responsável: BR1.1 - BIREME


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Id: biblio-889120
Autor: Sun, Qing-Qing; Hua, Dong-Jin; Huang, Si-Chao; Cen, Han; Zhou, Li; Shao, Song.
Título: Association study of AFF1 rs340630 polymorphism with genetic susceptibility to rheumatoid arthritis in Chinese population
Fonte: Braz. j. med. biol. res = Rev. bras. pesqui. méd. biol;51(7):e7126, 2018. tab.
Idioma: en.
Projeto: National Natural Science Foundation; . Nature Science Foundation; . Ningbo University Talent Project.
Resumo: This study was performed to examine whether the AF4/FMR2 family, member 1 (AFF1) rs340630 polymorphism is involved in the genetic background of rheumatoid arthritis (RA) in a Chinese population. Two different study groups of RA patients and controls (328 RA patients and 449 healthy controls in the first study group; 232 RA patients and 313 controls in the second study group) were included in our study. Overall, there was no significant difference in either genotype (P=0.71 and 0.64 in the first and second study group, respectively) nor allele (in the first study group: A vs G, P=0.65, OR=1.05, 95%CI=0.85-1.29; in the second study group: G vs A, P=0.47, OR=1.10, 95%CI=0.86-1.40) frequencies of AFF1 rs340630 polymorphism between RA patients and controls. Our study represents the first report assessing the association of AFF1 rs340630 polymorphism with RA risk. No significant evidence was found for the dominant or recessive models. Further case-control studies with larger sample sizes and fine-mapping studies are needed to clarify the role of AFF1 in the genetic basis of RA.
Descritores: Polimorfismo Genético/genética
Artrite Reumatoide/genética
Predisposição Genética para Doença/genética
Fatores de Elongação da Transcrição/genética
Proteínas de Ligação a DNA/genética
-Estudos de Casos e Controles
Grupo com Ancestrais do Continente Asiático
Frequência do Gene
Genótipo
Limites: Seres Humanos
Masculino
Feminino
Meia-Idade
Responsável: BR1.1 - BIREME


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Id: biblio-888954
Autor: Gu, QL; Han, Y; Lan, YM; Li, Y; Kou, W; Zhou, YS; Hai, XJ; Yan, B; Ci, CH.
Título: Association between polymorphisms in the APOB gene and hyperlipidemia in the Chinese Yugur population
Fonte: Braz. j. med. biol. res = Rev. bras. pesqui. méd. biol;50(11):e6613, 2017. tab.
Idioma: en.
Projeto: National Natural Science Foundation; . Gansu Provincial Natural Science Foundation; . Northwest University.
Resumo: We investigated the influence of apolipoprotein B gene (APOB) variants on the risk of hyperlipidemia (HL) in 631 middle-aged and elderly members of the Chinese Yugur population (HL, n=336; normolipidemia, n=295). APOB polymorphisms were identified using mass spectrometry, and five single nucleotide polymorphisms (rs1042034, rs2163204, rs512535, rs676210, and rs679899) and serum lipids were further analyzed. rs1042034 and rs676210 were significantly associated with HL (P<0.05). Compared with the GG or AA genotype, individuals with AG and AG+AA in rs1042034 and with AG and AG+GG in rs676210 had a 1.67-fold (95%CI=1.20-2.33),1.63-fold (95%CI=1.19-2.24), 1.72-fold (95%CI=1.24-2.40), and 1.67-fold (95%CI=1.21-2.291) increased risk of high HL, respectively. rs2163204 was in strong linkage disequilibrium with rs1042034, rs676210, and rs679899, and strong disequilibrium was observed between rs1042034 and rs676210 (D′>0.9). Compared with the GTGAA haplotype, haplotypes ATGGA and ATAGG were more strongly associated with HL [odds ratio (OR)=1.46, 95%CI=0.02-2.11; OR=1.63, 95%CI=1.03-2.60, respectively]. The risk factors age (P=0.008), body mass index (P<0.0001), GA+GG genotype in rs676210 (P=0.009), and alcohol consumption (P=0.056) contributed strongly to HL development. The A allele of rs1042034 and the G allele of rs676210 may thus predispose middle-aged and elderly members of the Chinese Yugur population to HL in combination with other genetic or nutritional factors, and could be used as new genetic markers for HL screening.
Descritores: Apolipoproteínas B/genética
Polimorfismo de Nucleotídeo Único
Hiperlipidemias/genética
-Haplótipos
Estudos de Casos e Controles
Modelos Lineares
China/etnologia
Fatores de Risco
Medição de Risco
Grupo com Ancestrais do Continente Asiático/genética
Estudos de Associação Genética
Frequência do Gene
Hiperlipidemias/etnologia
Lipídeos/sangue
Limites: Seres Humanos
Masculino
Feminino
Meia-Idade
Idoso
Idoso de 80 Anos ou mais
Responsável: BR1.1 - BIREME


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Id: biblio-888652
Autor: Küchler, Erika Calvano; Barreiros, Driely; Silva, Raphaela Oliveira da; Abreu, Júlia Guimarães Barcellos de; Teixeira, Ellen Cardoso; Silva, Raquel Assed Bezerra da; Silva, Lea Assed Bezerra da; Nelson Filho, Paulo; Romano, Fábio Lourenço; Granjeiro, José Mauro; Antunes, Lívia Azeredo Alves; Antunes, Leonardo Santos.
Título: Genetic Polymorphism in MMP9 May Be Associated With Anterior Open Bite in Children
Fonte: Braz. dent. j;28(3):277-280, May-June 2017. tab.
Idioma: en.
Projeto: CNPq; . FAPERJ; . FAPESP.
Resumo: Abstract Anterior open bite (AOB) has a multifactorial etiology caused by the interaction of sucking habits and genetic factors. The aim of this study was to evaluate the association between AOB and polymorphisms in genes that encode Matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs). Four hundred and seventy-two children that presented at least one sucking habit were evaluated. Children were examined clinically for the presence of AOB. Genomic DNA was extracted from saliva. Genotyping of the selected polymorphisms in MMP2, MMP3, MMP9, TIMP1 and TIMP2 was carried out by real-time PCR using the TaqMan method. Allele and genotype frequencies were compared between the groups with and without AOB using the PLINK® software in a free and in a recessive model using a chi-square test. Logistic regression analysis was implemented (p≤0.05). Two hundred nineteen children had AOB while 253 did not. The polymorphism rs17576 in MMP9 was significantly associated with AOB (p=0.009). In a recessive model GG genotype was a protective factor for AOB (p=0.014; OR 4.6, 95%CI 1.3-16.2). In the logistic regression analysis, none of the genes was associated with AOB. In conclusion, the polymorphism rs17576 (glutamine for arginine substitution) in MMP9 was a protective factor for AOB.

Resumo A mordida aberta anterior apresenta uma etiologia multifatorial causada pela interação entre hábitos de sucção e fatores genéticos. O objetivo deste estudo foi avaliar a associação entre mordida aberta anterior e polimorfismo nos genes que codificam as metaloproteinases da matriz (MMPs) e seus inibidores teciduais (TIMPs). Foram avaliadas 472 crianças que apresentvam pelo menos um hábito de sucção. As crianças foram clinicamente examinadas para avaliar a presença de mordida aberta anterior. DNA genômico foi extraído da saliva. A genotipagem dos polimorfismos selecionados em MMP2, MMP3, MMP9, TIMP1 e TIMP2 foi realizada por PCR em tempo real, usando o método de TaqMan. As frequências alélicas e genotípicas foram comparadas entre os grupos com e sem mordida aberta anterior usando o software PLINK®. Duzentas e dezenove crianças apresentavam mordida aberta anterior enquanto 253 não a apresentavam. O polimorfismo rs17576 em MMP9 estava significativamente associado com mordida aberta anterior (p=0,009). No modelo recessivo (GG versus AG+AA) o genótipo GG foi um fator protetor para mordida aberta anterior (p=0,014; OR 4,6; 95%CI 1,3- 16,2). Concluindo, o polimorfismo rs17576 (substituição de glutamina por arginina) em MMP9 está associado com mordida aberta anterior. Os resultados obtidos suportam a hipótese de que fatores genéticos estão envolvidos com a etiologia da mordida aberta anterior.
Descritores: Metaloproteinase 9 da Matriz/genética
Polimorfismo de Nucleotídeo Único
Mordida Aberta/etiologia
-Metaloproteinase 3 da Matriz/genética
Inibidor Tecidual de Metaloproteinase-1/genética
Inibidor Tecidual de Metaloproteinase-2/genética
Metaloproteinase 2 da Matriz/genética
Mordida Aberta/genética
Reação em Cadeia da Polimerase em Tempo Real
Sucção de Dedo
Frequência do Gene
Genótipo
Modelos Genéticos
Limites: Seres Humanos
Masculino
Feminino
Pré-Escolar
Criança
Responsável: BR1.1 - BIREME



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