Allelic Polymorphism
Mostrando 1-12 de 340 artigos, teses e dissertações.
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1. Association of FOXO3 polymorphism (rs3800231) and clinical subphenotypes of beta thalassemic individuals
Abstract Introduction Studies have shown that the loss of the FOXO3 transcriptional function is involved in the pathophysiology of some chronic erythroid disorders, including beta-thalassemia (β-thal). Therefore, the single nucleotide polymorphism (SNP) rs3800231 (35-2764A > G) could contribute to alterations in its transcriptional activity, acting as a mo
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
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2. The A allele of the rs759853 single nucleotide polymorphism in the AKR1B1 gene confers risk for diabetic kidney disease in patients with type 2 diabetes from a Brazilian population
ABSTRACT Objective: The AKR1B1 gene encodes an enzyme that catalyzes the reduction of glucose into sorbitol. Chronic hyperglycemia in patients with diabetes mellitus (DM) leads to increased AKR1B1 affinity for glucose and, consequently, sorbitol accumulation. Elevated sorbitol increases oxidative stress, which is one of the main pathways related to chronic
Archives of Endocrinology and Metabolism. Publicado em: 2022
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3. Differential effects of the methylenetetrahydrofolate reductase polymorphisms (C677T and A1298C) on hematological malignancies among Latinos: a meta-analysis
Abstract Our objective was to determine the association between the methylenetetrahydrofolate reductase polymorphisms (C677T and A1298C) and the risk of developing acute lymphoblastic leukemia (ALL), chronic myeloid leukemia (CML), acute myeloid leukemia (AML), and multiple myelomas (MM) in Latinos. PubMed, SCOPUS, EBSCO, LILACS, and other Latin-specific dat
Genet. Mol. Biol.. Publicado em: 14/11/2019
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4. THE INFLUENCE OF ACE I/D GENE POLYMORPHISM IN AMATEUR AMERICAN FOOTBALL ATHLETES IN BRAZIL
RESUMO Introdução O desempenho físico depende de uma série de propriedades biológicas e mecânicas. Esses diferentes fenótipos são relacionados através da complexa interação entre o ambiente e o perfil genético individual. A hipótese é que existe um componente hereditário que interfere na aptidão física. O gene da ECA destaca-se entre os ge
Rev Bras Med Esporte. Publicado em: 11/11/2019
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5. ADRB2 GLN27GLU POLYMORPHISM ASSOCIATED WITH ADIPOSITY INDICATORS AND IL-10 IN ADOLESCENTS
RESUMO Introdução: Estudos de associação entre a obesidade e fatores genéticos têm demonstrado a significativa contribuição de polimorfismos relacionados à distribuição de gordura corporal e processo inflamatório subclínico. Objetivo: Investigar a associação entre os genótipos do polimorfismo Gln27Glu do gene ADRB2 e indicadores de adiposid
Rev Bras Med Esporte. Publicado em: 29/07/2019
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6. Analysis of apolipoprotein E genetic polymorphism in a large ethnic Hakka population in southern China
Abstract There is currently no data about the genetic variations of APOE in Hakka population in China. The aim of this study was to analyze the allelic and genotypic frequencies of APOE gene polymorphisms in a large ethnic Hakka population in southern China. The APOE genes of 6,907 subjects were genotyped by the gene chip platform. The allele and genotype fr
Genet. Mol. Biol.. Publicado em: 29/11/2018
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7. Effect of STAT1, OLR1, CSN1S1, CSN1S2 , and DGAT1 genes on milk yield and composition traits of Holstein breed
ABSTRACT The objectives of the study were to evaluate allelic frequencies and test the association between STAT1, OLR1, CSN1S1, CSN1S2 , and DGAT1 gene polymorphisms and milk production traits including lactation milk yield, 305 days milk yield, days before peak milk production, and peak milk yield. In addition, samples of milk were analysed for fat, protein
R. Bras. Zootec.. Publicado em: 08/11/2018
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8. Gender-specific association of the rs6499640 polymorphism in the FTO gene with plasma lipid levels in Chinese children
Abstract The fat mass- and obesity-associated gene (FTO) is significantly associated with obesity, but the associations of FTO with obesity-related traits are not fully described. We aimed to investigate the association of the FTO single nucleotide polymorphism (SNP) rs6499640 with lipid levels in Chinese children. A total of 3503 children aged 6-18 years we
Genet. Mol. Biol.. Publicado em: 04/06/2018
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9. Search for DQ2.5 and DQ8 alleles using a lower cost technique in patients with type 1 diabetes and celiac disease in a population of southern Brazil
ABSTRACT Objective To evaluate the frequency of DQ2.5 and DQ8 alleles using the Tag-single-nucleotide polymorphism (Tag-SNP) technique in individuals with type 1 diabetes mellitus (T1DM) and celiac disease (CD) in southern Brazil. Materials and methods In a prospective design, we performed the search for DQA1*0501 and DQB1*0201 alleles for DQ2.5 and DQB1
Arch. Endocrinol. Metab.. Publicado em: 13/07/2017
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10. Frequency of adult type-associated lactase persistence LCT-13910C/T genotypes in the Czech/Slav and Czech Roma/Gypsy populations
Abstract Lactase non-persistence (leading to primary lactose intolerance) is a genetically dependent inability to digest lactose in adulthood. As part of the human adaptation to dairying, the human lactase LCT-13910C/T mutation (which propagates adult expression of lactase) developed, spread and participated in the adaptation to dairying. This variant is ass
Genet. Mol. Biol.. Publicado em: 11/05/2017
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11. Influence of IL-6, IL-8, and TGF-β1 gene polymorphisms on the risk of human papillomavirus-infection in women from Pernambuco, Brazil
Human papillomavirus (HPV) infections are strongly associated with the development of cervical intraepithelial neoplasias and invasive cervical cancer. Polymorphisms in cytokine-encoding genes and behavioural cofactors could play an important role in protecting an individual against viral infections and cancer. Here, we investigated whether IL-6 -174 G>C, IL
Mem. Inst. Oswaldo Cruz. Publicado em: 24/10/2016
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12. Prevalence of the rs1801282 single nucleotide polymorphism of the PPARG gene in patients with metabolic syndrome
Objective This study aimed to get the genotypic and allelic frequencies of rs1801282 in 179 volunteer donors and 154 patients with Metabolic syndrome (MetS) in Brasilia, Brazil and also examine the association with anthropometric, biochemical and hemodynamic variables in the latter group. MetS comprises a group of diseases resulting from insulin resistance,
Arch. Endocrinol. Metab.. Publicado em: 2015-08