Πλοήγηση ανά Θέμα "POLYMORPHISMS"
Αποτελέσματα 1-20 από 32
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Association between AKT1 gene and Parkinson's disease: A protective haplotype
(2008)Variation in AKT1 has been associated with schizophrenia, bipolar disease and type 11 diabetes. The aim of the present study was to investigate the potential role of variability within AKT1 as a risk factor for Parkinson's ... -
Association of a BMP5 microsatellite with knee osteoarthritis: case-control study
(2012)Introduction: We aimed to explore the involvement of a multiallelic functional polymorphism in knee osteoarthritis (OA) susceptibility as a prototype of possible genetic factors escaping GWAS detection. Methods: OA patients ... -
Association of a nsSNP in ADAMTS14 to some osteoarthritis phenotypes
(2009)Objective: To investigate the effect in OA (Osteoarthritis) susceptibility of putative damaging changes in ADAM (A Disintegrin And Metalloprotease) and ADAMTS (ADAM with ThromboSpondin motif proteases. Methods: Non-synonymous ... -
Common genetic variation in the Estrogen Receptor Beta (ESR2) gene and osteoarthritis: results of a meta-analysis
(2010)Background: The objective of this study was to examine the relationship between common genetic variation of the ESR2 gene and osteoarthritis. Methods: In the discovery study, the Rotterdam Study-I, 7 single nucleotide ... -
Cytokine gene polymorphisms in periodontal disease: a meta-analysis of 53 studies including 4178 cases and 4590 controls
(2008)Aim: We conducted a systematic review and a meta-analysis, in order to investigate the potential association of cytokine gene polymorphisms with either aggressive or chronic periodontal disease. Material and Methods: A ... -
The effect of homocysteine on the clinical outcomes of ventilated patients with severe sepsis
(2010)Background. There is considerable evidence that elevated plasma homocysteine levels are associated with a prothrombotic milieu, whereas activation of the coagulation cascade is an important component of the pathogenesis ... -
Estimating the mode of inheritance in genetic association studies of qualitative traits based on the degree of dominance index
(2011)Background: The biological justification for the choice of the genetic mode in genetic association studies (GAS) is seldom available. Then, the mode of inheritance is approximated by investigating a number of non-orthogonal ... -
Evidence of Association Between Methylenetetrahydrofolate Reductase Gene and Susceptibility to Breast Cancer: A Candidate-Gene Association Study in a South-Eastern European Population
(2012)The methylenetetrahydrofolate reductase (MTHFR) gene has been proposed as a candidate gene for breast cancer (BC). However, the specific role of MTHFR polymorphisms and haplotypes has not been fully clarified and replicated. ... -
Gamma-aminobutyric acid A receptor, alpha-2 (GABRA2) variants as individual markers for alcoholism: a meta-analysis
(2012)Objectives The available evidence from the genetic association studies (GAS) published to date on the association between variants in the GABRA2 gene and alcoholism has produced inconclusive results. To interpret these ... -
The Generalized Odds Ratio as a Measure of Genetic Risk Effect in the Analysis and Meta-Analysis of Association Studies
(2010)The significance of risk effects in genetic association studies is assessed using the odds ratio for various genetic models (dominant, recessive and co-dominant) by merging genotypes. These models are not independent and ... -
Genetic variants of homocysteine/folate metabolism pathway and risk of inflammatory bowel disease: a synopsis and meta-analysis of genetic association studies
(2010)A synopsis and meta-analysis of studies that investigated the association between genetic variants involved in the homocysteine/folate metabolism pathway and risk of inflammatory bowel disease (IBD) were conducted. Four ... -
Glutathione S-Transferase M1 and T1 Genes and Susceptibility to Chronic Myeloid Leukemia: A Meta-Analysis
(2009)Variants of glutathione S-transferase M1 (GSTM1) and T1 (GSTT1) genes have been implicated as risk factors for chronic myeloid leukemia (CML). However, the genetic association studies that examined the relation between the ... -
Histopathological and immunohistochemical features of natural goat scrapie
(2006)Histopathological and immunohistochemical examinations were performed on the brain and spinal cord of 37 goats from two Greek herds in which scrapie had been reported. Of the 37 animals, 18 were from a herd consisting only ... -
How genetics research in Parkinson's disease is enhancing understanding of the common idiopathic forms of the disease
(2005)Purpose of review Rapid progress in genetics has meant that there are now five genes identified for 'Parkinson's disease'. The detailed phenotypes vary, but generally the dominant genes cause a Lewy body disease spectrum ... -
Inhibin alpha gene and susceptibility to premature ovarian failure: a data synthesis
(2009)Candidate-gene association studies that examined the association between polymorphisms of the inhibin alpha gene (G769A, C16T and A124G) and premature ovarian failure (POF) have reported contradictory results. Thus, a ... -
The interplay between environmental and genetic factors in Parkinson's disease susceptibility: The evidence for pesticides
(2013)Parkinson's disease (PD) is a common neurodegenerative disorder characterized by dopaminergic neuron loss in the substantia nigra. Several genetic and environmental factors have been implicated in the pathogenesis of PD. ... -
Lack of Association Between Common Endothelial Nitric Oxide Synthase Gene Haplotypes and Left Ventricular Hypertrophy in Hypertension
(2010)The endothelial nitric oxide synthase (NOS3) gene has been implicated in the pathogenesis of hypertension-related left ventricular hypertrophy (LVH). Candidate-gene studies have examined the role of NOS3 variation, but ... -
Lack of validation of genetic variants associated with anti-tumor necrosis factor therapy response in rheumatoid arthritis: a genome-wide association study replication and meta-analysis
(2014)Introduction: In this study, our aim was to elucidate the role of four polymorphisms identified in a prior large genome-wide association study (GWAS) in which the investigators analyzed the responses of patients with ... -
MDR1 mRNA expression and MDR1 gene variants as predictors of response to chemotherapy in patients with acute myeloid leukaemia: a meta-analysis
(2013)Data from 30 pharmacogenomic studies that investigated MDR1 mRNA expression or gene variants (C3435T, G2677TA, C1236T) and response to therapy in acute myeloid leukaemia (AML) were synthesized. Anthracycline-based regimens ...