Search results for " ASSOCIATION"
showing 10 items of 996 documents
Aerobic Fitness Does Not Modify the Effect of FTO Variation on Body Composition Traits
2012
Purpose Poor physical fitness and obesity are risk factors for all cause morbidity and mortality. We aimed to clarify whether common genetic variants of key energy intake determinants in leptin (LEP), leptin receptor (LEPR), and fat mass and obesity-associated (FTO) are associated with aerobic and neuromuscular performance, and whether aerobic fitness can alter the effect of these genotypes on body composition. Methods 846 healthy Finnish males of Caucasian origin were genotyped for FTO (rs8050136), LEP (rs7799039) and LEPR (rs8179183 and rs1137101) single nucleotide polymorphisms (SNPs), and studied for associations with maximal oxygen consumption, body fat percent, serum leptin levels, wa…
L'intégration politique des bourgeois d'Angers aux XIe et XIIe siècles : entre stratégie et opportunité
2009
Place: Rennes
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB
2020
Abstract DCTN1 encodes the largest subunit of dynactin complex essential in the retrograde axonal transport and cytoplasmic transport of vesicles; mutations in DCTN1 have been reported predominantly in individuals with Perry syndrome and, recently, in patients with progressive supranuclear palsy. Our genetic screening of DCTN1 in 79 patients with progressive supranuclear palsy, 100 patients with multiple system atrophy, and 28 patients with dementia with Lewy bodies from Italy revealed only synonymous and intronic variants, suggesting that DCTN1 mutations do not have a key role in the development of atypical parkinsonism in the Italian population.
Latvijas Bibliotekāru biedrība un profesionālie pieredzes apmaiņas pasākumi kopš darbības atjaunošanas
2019
Pētījuma “Latvijas Bibliotekāru biedrība un profesionālie pieredzes apmaiņas pasākumi kopš darbības atjaunošanas” mērķis ir izpētīt LBB organizētos profesionālos pieredzes apmaiņas pasākumus, to tematiku un apmeklētību laika posmā no darbības atjaunošanas 1989. gadā līdz 2018. gadam, jo plaši pieejamā apkopojošā informācija ir nepietiekama. Bakalaura darbs izstrādāts, pētot mācīšanās, sociālo tīklu un tās atzara – sociālā kapitāla – teorijas, analizējot iepriekš veiktus tematiski saistītus pētījumus un veicot LBB pārstāvju intervijas, arhīva dokumentu un nozares publikāciju analīzi un LBB pasākuma apmeklētāju anketēšanu, kā rezultātā apkopoti un analizēti LBB un tās reģionālo nodaļu un tema…
Latvijas Bibliotekāru biedrība: vēsturiskie notikumi un jaunāko gadu norises
2022
Maģistra darba mērķis ir izpētīt ar Latvijas Bibliotekāru biedrību (LBB) un tās valdi saistītus vēsturiskos notikumus, to veidus un pārmaiņu tendences laika posmā no LBB dibināšanas 1923. gadā līdz 2014. gadam un izstrādāt biedrības notikumu hronoloģiju, kā arī pētīt viedokļus par LBB jaunāko gadu (2014.–2021. gada) norisēm, jo līdz šim informācija bijusi pieejama tikai izkliedētā vai daļēji apkopotā veidā. Pētījums izstrādāts, pētot vēsturiskos un sociālos procesus skaidrojošas teorijas (vēsturiskuma metateorija un sociālās apmaiņas teorija), veicot arhīva dokumentu, rakstu periodikā un citu publikāciju analīzi un ekspertu – LBB valdes locekļu un biedru – anketēšanu. Darba rezultātā apkopo…
Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma
2014
Diffuse large B cell lymphoma (DLBCL) is the most common lymphoma subtype and is clinically aggressive. To identify genetic susceptibility loci for DLBCL, we conducted a meta-analysis of 3 new genome-wide association studies (GWAS) and 1 previous scan, totaling 3,857 cases and 7,666 controls of European ancestry, with additional genotyping of 9 promising SNPs in 1,359 cases and 4,557 controls. In our multi-stage analysis, five independent SNPs in four loci achieved genome-wide significance marked by rs116446171 at 6p25.3 (EXOC2; P = 2.33 × 10 '21), rs2523607 at 6p21.33 (HLA-B; P = 2.40 × 10 '10), rs79480871 at 2p23.3 (NCOA1; P = 4.23 × 10 '8) and two independent SNPs, rs13255292 and rs47336…
Imputation of posterior linkage probability relations reveals a significant influence of structural 3D constraints on linkage disequilibrium
2018
Genetic association studies have become increasingly important in unraveling the genetics of diseases or complex traits. Despite their value for modern genetics, conflicting conclusions often arise through the difficulty of confirming and replicating experimental results. We argue that this problem is largely based on the application of statistical relation measures that are not appropriate for genomic data analysis and demonstrate that the standard measures used for Genome-wide association studies or genomics linkage analysis bear a statistic bias. This may come from the violation of underlying assumptions (such as independence or stationarity) as well as from other conceptual limitations …
Accounting for haplotype phase uncertainty in linkage disequilibrium estimation
2007
The characterization of linkage disequilibrium (LD) is applied in a variety of studies including the identification of molecular determinants of the local recombination rate, the migration and population history of populations, and the role of positive selection in adaptation. LD suffers from the phase uncertainty of the haplotypes used in its calculation, which reflects limitations of the algorithms used for haplotype estimation. We introduce a LD calculation method, which deals with phase uncertainty by weighting all possible haplotype pairs according to their estimated probabilities as evaluated by PHASE. In contrast to the expectation-maximization (EM) algorithm as implemented in the HA…
Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility
2013
In the last four years, Genome-Wide Association Studies (GWAS) have identified sixteen low-penetrance polymorphisms on fourteen different loci associated with colorectal cancer (CRC). Due to the low risks conferred by known common variants, most of the 35% broad-sense heritability estimated by twin studies remains unexplained. Recently our group performed a case-control study for eight Single Nucleotide Polymorphisms (SNPs) in 4 CRC genes. The present investigation is a followup of that study. We have genotyped six SNPs that showed a positive association and carried out a meta-analysis based on eight additional studies comprising in total more than 8000 cases and 6000 controls. The estimate…
Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis
2013
To access publisher's full text version of this article click on the hyperlink at the bottom of the page Primary sclerosing cholangitis (PSC) is a severe liver disease of unknown etiology leading to fibrotic destruction of the bile ducts and ultimately to the need for liver transplantation. We compared 3,789 PSC cases of European ancestry to 25,079 population controls across 130,422 SNPs genotyped using the Immunochip. We identified 12 genome-wide significant associations outside the human leukocyte antigen (HLA) complex, 9 of which were new, increasing the number of known PSC risk loci to 16. Despite comorbidity with inflammatory bowel disease (IBD) in 72% of the cases, 6 of the 12 loci sh…