Search results for " association"

Polymorphisms of an innate immune gene, toll-like receptor 4, and aggressive prostate cancer risk: a systematic review and meta-analysis.

2014

Background: Toll-like receptor 4 (TLR4) is one of the best known TLR members expressed on the surface of several leukocytes and tissue cells and has a key function in detecting pathogen and danger-associated molecular patterns. The role of TLR4 in the pathophysiology of several age-related diseases is also well recognized, such as prostate cancer (PCa). TLR4 polymorphisms have been related to PCa risk, but the relationship between TLR4 genotypes and aggressive PCa risk has not been evaluated by any systematic reviews. Methods: We performed a systematic review and meta-analysis of candidate-gene and genome-wide association studies analyzing this relationship and included only white populatio…

The Gaia-ESO Survey: The origin and evolution of s-process elements

2018

Context. Several works have found an increase of the abundances of the s-process neutron-capture elements in the youngest Galactic stellar populations. These trends provide important constraints on stellar and Galactic evolution and they need to be confirmed with large and statistically significant samples of stars spanning wide age and distance intervals. Aims. We aim to trace the abundance patterns and the time evolution of five s-process elements - two belonging to the first peak, Y and Zr, and three belonging to the second peak, Ba, La, and Ce - using the Gaia-ESO IDR5 results for open clusters and disc stars. Methods. From the UVES spectra of cluster member stars, we determined the ave…

En etsi valtaa, loistoa .. : amerikkalaiseen asejärjestöön perustuvaa tutkimusta vallan suhteellisuudesta ja sen määrittelemisen ongelmallisuudesta

2006

Statistical colocalization of monocyte gene expression and genetic risk variants for type 1 diabetes

2012

One mechanism by which disease-associated DNA variation can alter disease risk is altering gene expression. However, linkage disequilibrium (LD) between variants, mostly single-nucleotide polymorphisms (SNPs), means it is not sufficient to show that a particular variant associates with both disease and expression, as there could be two distinct causal variants in LD. Here, we describe a formal statistical test of colocalization and apply it to type 1 diabetes (T1D)-associated regions identified mostly through genome-wide association studies and expression quantitative trait loci (eQTLs) discovered in a recently determined large monocyte expression data set from the Gutenberg Health Study (1…

The Childhood Leukemia International Consortium

2013

Abstract Background : Acute leukemia is the most common cancer in children under 15 years of age; 80% are acute lymphoblastic leukemia (ALL) and 17% are acute myeloid leukemia (AML). Childhood leukemia shows further diversity based on cytogenetic and molecular characteristics, which may relate to distinct etiologies. Case–control studies conducted worldwide, particularly of ALL, have collected a wealth of data on potential risk factors and in some studies, biospecimens. There is growing evidence for the role of infectious/immunologic factors, fetal growth, and several environmental factors in the etiology of childhood ALL. The risk of childhood leukemia, like other complex diseases, is like…

VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis.

1992

Vertebral abnormalities and anorectal and tracheoesophageal defects are the main manifestations in the VATER/VACTERL association. Radial defects vary from radial aplasia to thumb duplication. Heart and renal defects are reported with lower frequency. Additional malformations, such as the laryngeal stenosis described in the present patient, may expand the phenotype of the association. The wide spectrum of congenital abnormalities confirms the high clinical variability of VATER/VACTERL association which seems to be due to a disruption of blastogenesis. © 1992 Wiley-Liss, Inc.

Genetic correlation between resistance to oxidative stress and reproductive life span in a bird species.

2010

Evolutionary theories propose that aging is the result of a trade-off between self-maintenance and reproduction, and oxidative stress may play a crucial role in such a trade-off. Phenotypic manipulations have revealed that a high investment in reproduction leads to a decline in the organism's resistance to oxidative stress, which could in turn accelerate aging. Here, by using quantitative genetic analyses as a tool to disentangle genetic effects from phenotypic variances, the relationship between resistance to oxidative stress at sexual maturity and two key reproductive life-history traits (i.e., number of breeding events during life and age at last reproduction) was analyzed in cross-foste…

Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

2021

Abstract Background Biological aging estimators derived from DNA methylation data are heritable and correlate with morbidity and mortality. Consequently, identification of genetic and environmental contributors to the variation in these measures in populations has become a major goal in the field. Results Leveraging DNA methylation and SNP data from more than 40,000 individuals, we identify 137 genome-wide significant loci, of which 113 are novel, from genome-wide association study (GWAS) meta-analyses of four epigenetic clocks and epigenetic surrogate markers for granulocyte proportions and plasminogen activator inhibitor 1 levels, respectively. We find evidence for shared genetic loci ass…

Does higher education protect against obesity? Evidence using Mendelian randomization

2017

Objectives. The aim of this explorative study was to examine the effect of education on obesity using Mendelian randomization. Methods. Participants (N = 2011) were from the on- going nationally representative Young Finns Study (YFS) that began in 1980 when six cohorts (aged 30, 33, 36, 39, 42 and 45 in 2007) were recruited. The average value of BMI (kg/m(2)) measurements in 2007 and 2011 and genetic information were linked to comprehensive register based information on the years of education in 2007. We first used a linear regression (Ordinary Least Squares, OLS) to estimate the relationship between education and BMI. To identify a causal relationship, we exploited Mendelian randomization …

Combined Use of Structure Analysis, Studies of Molecular Association in Solution, and Molecular Modelling to Understand the Different Propensities of…

2021

The arrangement of hydroxyl groups in the benzene ring has a significant effect on the propensity of dihydroxybenzoic acids (diOHBAs) to form different solid phases when crystallized from solution. All six diOHBAs were categorized into distinctive groups according to the solid phases obtained when crystallized from selected solvents. A combined study using crystal structure and molecule electrostatic potential surface analysis, as well as an exploration of molecular association in solution using spectroscopic methods and molecular dynamics simulations were used to determine the possible mechanism of how the location of the phenolic hydroxyl groups affect the diversity of solid phases formed…