Search results for "Association."

PSD3 downregulation confers protection against fatty liver disease

2022

Fatty liver disease (FLD) is a growing health issue with burdening unmet clinical needs. FLD has a genetic component but, despite the common variants already identified, there is still a missing heritability component. Using a candidate gene approach, we identify a locus (rs71519934) at the Pleckstrin and Sec7 domain-containing 3 (PSD3) gene resulting in a leucine to threonine substitution at position 186 of the protein (L186T) that reduces susceptibility to the entire spectrum of FLD in individuals at risk. PSD3 downregulation by short interfering RNA reduces intracellular lipid content in primary human hepatocytes cultured in two and three dimensions, and in human and rodent hepatoma cell…

Genome-wide scan for selection signatures reveals novel insights into the adaptive capacity in local North African cattle

2020

International audience; Natural-driven selection is supposed to have left detectable signatures on the genome of North African cattle which are often characterized by the fixation of genetic variants associated with traits under selection pressure and/or an outstanding genetic differentiation with other populations at particular loci. Here, we investigate the population genetic structure and we provide a first outline of potential selection signatures in North African cattle using single nucleotide polymorphism genotyping data. After comparing our data to African, European and indicine cattle populations, we identified 36 genomic regions using three extended haplotype homozygosity statistic…

Developing the "next generation" of genetic association databases for complex diseases

2012

Tens of thousands of genetic association studies investigating the influence of common polymorphisms on disease susceptibility have been published to date. These include similar to 1,000 genome-wide association studies (GWAS). This vast amount of data in the field of complex genetics is becoming increasingly difficult to follow and interpret. It can be expected that the situation will become even more complex with the advent of association projects using next-generation technologies. One of the aims of the Human Variome Project is to concatenate such data in meaningful ways, for example, within the context of publicly available field synopses. Here, we present various examples of online gen…

openSNP–A Crowdsourced Web Resource for Personal Genomics

2014

Genome-Wide Association Studies are widely used to correlate phenotypic traits with genetic variants. These studies usually compare the genetic variation between two groups to single out certain Single Nucleotide Polymorphisms (SNPs) that are linked to a phenotypic variation in one of the groups. However, it is necessary to have a large enough sample size to find statistically significant correlations. Direct-To-Consumer (DTC) genetic testing can supply additional data: DTC-companies offer the analysis of a large amount of SNPs for an individual at low cost without the need to consult a physician or geneticist. Over 100,000 people have already been genotyped through Direct-To-Consumer genet…

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.

2014

Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regressionmodels adjusting for stud…

Population genetic analysis of bi-allelic structural variants from low-coverage sequence data with an expectation-maximization algorithm

2014

Background Population genetics and association studies usually rely on a set of known variable sites that are then genotyped in subsequent samples, because it is easier to genotype than to discover the variation. This is also true for structural variation detected from sequence data. However, the genotypes at known variable sites can only be inferred with uncertainty from low coverage data. Thus, statistical approaches that infer genotype likelihoods, test hypotheses, and estimate population parameters without requiring accurate genotypes are becoming popular. Unfortunately, the current implementations of these methods are intended to analyse only single nucleotide and short indel variation…

Summaries of presentations during the sixth Workshop of the International Association of Phytoplankton Ecology and Taxonomy, Mondsee, Austria, 15–25 …

1987

Genetic Diversity in Latvian Spring Barley Association Mapping Population

2012

Certified organic crop area is continuously increasing in European Union and in Latvia (Eurostat data), despite somewhat lower yield and higher potential for disease damage in organic farming. It is increasingly recognized that breeding varieties for organic farming requires focus on specific traits that may be less important under conventional agriculture. Molecular markers are becoming essential tools for plant breeding allowing reducing time and cost of development of new varieties by early selection of progeny with desired traits. However, there is lack of information on molecular markers for traits that may be important for organic farming, such as plant morphological traits ensuring c…

Association of education with leisure-time physical inactivity in Finnish twins over 35 years

2015

American Heart Association’s Cardiovascular Health Metrics and Risk of Cardiovascular Disease Mortality Among a Middle-aged Male Scandinavian Populat…

2019

Background: The burden of cardiovascular disease (CVD) prompted the American Heart Association to develop a cardiovascular health (CVH) metric as a measure to assess the cardiovascular status of the population. We aimed to assess the association between CVH scores and the risk of CVD mortality among a middle-aged Finnish population. Methods: We employed the prospective population-based Kuopio Ischemic Heart Disease cohort study comprising of middle-aged men (42–60 years). CVH scores were computed among 2607 participants at baseline and categorized as optimum (0–4), average (5–9), or inadequate (10–14) CVH. Multivariate cox regression models were used to estimate the hazard ratios (HR) and 9…