Results: 86

Methodology for in silico mining of microsatellite polymorphic loci

Rev. cuba. inform. méd; 11 (1), 2019
Polymorphisms with variable number of tandem repeats (VNTR), are genetic markers used in areas of genomics as evolutionary, epidemiological and population genetics studies. The growth of genomic sequences in data banks and the development of computational tools for bioinformatics allow the mining of thes...

The role of GNLY gene polymorphisms in psoriasis pathogenesis

An. bras. dermatol; 94 (2), 2019
Abstract BACKGROUND: Psoriasis is a systemic inflammatory disorder that involves complex pathogenic interactions between the innate and adaptive immune systems. The most accepted mechanism in the etiopathogenesis of psoriasis is the induction of inflammation with keratinocyte hyperproliferation. Granuly...

Cytotoxic T Lymphocyte-associated Antigen 4 Polymorphisms Correlated with Graves' Disease in Patients of Han Ethnicity in Yunnan, China

West Indian med. j; 68 (1), 2019
ABSTRACT Objective: To investigate the correlations between polymorphisms at position 49 in exon 1 and position 318 in the promoter of the cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) gene and autoimmune thyroid diseases in a Han Chinese population. Methods: Polymerase chain reaction-restrictio...

Assessment of metalloproteinase matrix 9 (MMP9) gene polymorphisms risk factors for pelvic organ prolapse in the brazilian population

Abstract Objective To evaluate the C-1562T matrix metalloproteinase 9 (MMP9) gene polymorphisms as risk factors related to the occurrence of pelvic organ prolapse (POP) and to identifytheclinicalvariablesassociatedwith theoccurrenceof thedisease.Epidemiological studies of risk factors for POP do not ex...

Association of vitamin D3, VDR gene polymorphisms, and LL-37 with a clinical form of Chagas Disease

Abstract INTRODUCTION: Chagas disease (CD) is an important public health problem in Brazil and worldwide. Aging and obesity are important matters in patients with CD, as is hypovitaminosis D3, which can decrease the quality of life of these patients. Immunomodulation mediated by vitamin D3, especially ...

Genetic variation of aggrecanase-2 (ADAMTS5) in susceptibility to osteoarthritis

Braz. j. med. biol. res; 52 (2), 2019
Aggrecanase-2 (ADAMTS5) gene is responsible for aggrecan degradation that may contribute to cartilage destruction in a mouse osteoarthritis (OA) model. We aimed to investigate the effects of ADAMTS5 gene polymorphisms on OA risk in a Chinese population. A total of 300 OA patients and 300 controls were re...

Prevalence of G6PD deficiency and molecular characterization of G202A, A376G and C563T polymorphisms in newborns in Southeastern Brazil

Einstein (Säo Paulo); 17 (1), 2019
ABSTRACT Objective To evaluate the prevalence of G6PD deficiency and characterize G202A, A376G and C563T polymorphisms in neonates using molecular assays. Methods A total of one thousand samples were tested through quantitative analysis of enzyme activity, detecting 25 G6PD-deficient individuals. Patie...

Allele and haplotype frequencies of human platelet and leukocyte antigens in platelet donors

Einstein (Säo Paulo); 17 (1), 2019
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 bet...

Is there any association between osteoporotic vertebral fracture and vitamin K epoxide reductase complex subunit-1 polymorphism in Turkish society? A pilot study

Clinics; 74 (), 2019
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 isola...

Genetic correlation between Prothrombin G20210A polymorphism and retinal vein occlusion risk

Braz. j. med. biol. res; 52 (4), 2019
The aim of this study was to perform an updated meta-analysis to quantitatively investigate the association between G20210A polymorphism of Prothrombin gene and the risk of retinal vein occlusion (RVO), based on the available publications with inconsistent results. We utilized the Stata software to perfo...