3413 results for "*geneti*"

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• Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP

  We conducted GWAS of sporadic CJD, variant CJD, iatrogenic CJD, inherited prion disease, kuru and resistance to kuru despite attendance at mortuary feasts. After quality control we analysed 2000 samples and 6015 control individuals (provided by the Wellcome Trust Case Control Consortium and KORA-gen), for 491032-511862 SNPs in the European study. Association studies were done in each geographical and aetiological group followed by several combined analyses.

  Study EGAS00000000097

• Identification of genetic etiology of CAMRQ2

  We aimed to identify genetic etiology of cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ). Targeted sequencing of the entire CAMRQ2 locus, 7.1 Mb interval on chromosome 17p13, in three affected individuals and two obligate carriers uncovered the mutation associated with CAMRQ2.

  Study EGAS00000000099

• Genome-wide DNA methylation sequencing identifies epigenetic perturbations in the upper airways under long-term exposure to moderate levels of ambient air pollution

  While the link between exposure to high levels of ambient particulate matter (PM) and increased incidences of respiratory and cardiovascular diseases is widely recognized, recent epidemiological studies have shown that low PM concentrations are equally associated with adverse health effects. As DNA methylation is one of the main mechanisms by which cells regulate and stabilize gene expression, changes in the methylome could constitute early indicators of dysregulated signaling pathways. So far, little is known about PM-associated DNA methylation changes in the upper airways, the first point of contact between airborne pollutants and the human body. Here, we focused on cells of the upper respiratory tract and assessed their genome-wide DNA methylation pattern to explore exposure-associated early regulatory changes. Using a mobile epidemiological laboratory, nasal lavage samples were collected from a cohort of 60 adults that lived in districts with records of low (Simmerath) or moderate (Stuttgart) PM10 levels in Germany. PM10 concentrations were verified by particle measurements on the days of the sample collection and genome-wide DNA methylation was determined by enzymatic methyl sequencing at single-base resolution. We identified 231 differentially methylated regions (DMRs) between moderately and lowly PM10 exposed individuals. A high proportion of DMRs overlapped with regulatory elements, and DMR target genes were involved in pathways regulating cellular redox homeostasis and immune response. In addition, we found distinct changes in DNA methylation of the HOXA gene cluster whose methylation levels have previously been linked to air pollution exposure but also to carcinogenesis in several instances. The findings of this study suggest that regulatory changes in upper airway cells occur at PM10 levels below current European thresholds, some of which may be involved in the development of air pollution-related diseases.

  Study EGAS00001007374

• Genetics of gene expression in primary human immune cells Data Access Committee

  Dac EGAC01000000009

• Oxidative phosphorylation is a key ontogenetic feature of monocyte immunometabolism promoting myeloid differentiation after birth

  Neonates primarily rely on innate immunity, yet their inflammatory responses to microbes, particularly those of monocytes, are usually restricted compared to adults. This is controversially interpreted as immaturity increasing the risk of sepsis or essential programming allowing immune adaptation after birth. Which changes the cellular immunometabolism undergoes after birth and its role in these concepts are poorly defined. Here, we applied transcriptomic, metabolic, and immunological approaches and found that monocytes exhibit an inverse ontogenetic balance of immunometabolism. Our data show that glycolysis in monocytes increases within the first year of life and fuels their inflammatory responsiveness. In contrast, oxidative phosphorylation (OXPHOS) is high in neonatal monocytes supporting myeloid differentiation but declines only gradually during the first five years of life. Treatment of neonatal monocytes with lipopolysaccharide induces an adult-like immunometabolic phenotype. Ketogenic diet restricts glycolysis in adult monocytes, but cannot reactivate OXPHOS and revive a neonatal-like immunometabolic phenotype, suggesting that neonatal metabolism is hardwired and cannot be restored by simple dietary changes. Transcriptional network and population-wide human variation analyses identified E2F1, MYB, STAT1 and FLI1 as important regulators of age-dependent cell functions and related energy demands in human monocytes. Collectively, our findings show that restricted glycolysis and increased OXPHOS are a physiological programming in neonatal monocytes. Premature switching to an adult-like metabolism could untimely enhance inflammatory responses and disrupt important myeloid differentiation, whereas microbial challenges accumulating during childhood seem to induce an essential gradual metabolic switch.

  Study EGAS00001007555

• Cancer Genetics Data Access Commitee

  Dac EGAC00001001742

• European Network of Genomic and Genetic Epidemiology Data Access Committee

  Dac EGAC00000000008

• DAC_for_study___SEQCAP_Unraveling_the_genetic_basis_of_a_collagen_migration_defect_in_patients

  Dac EGAC00001000020

• DAC_for_study___Screening_for_human_epigenetic_variation_at_CpG_islands

  Dac EGAC00001000043

• Department of Human Genetics, Radboud University Nijmegen Medical Centre, Data Access Committee

  Dac EGAC00001000076

• “Human population genetics” team (Muséum national d’Histoire naturelle, Paris, France)

  Dac EGAC00001000147

• UPF - Evolutionary Population Genetics lab Data Access Committee

  Dac EGAC00001000244

• Molecular and Population Genetics (MPG) research at ICR DAC

  Dac EGAC00001000304

• English Longitudinal Study for Ageing (ELSA) Genetic Data Access

  Dac EGAC00001000270

• Bioscientia Molecular Genetics DAC

  Dac EGAC00001000271

• Molecular and Population Genetics (MPG) research at ICR DAC agreement

  Dac EGAC00001000303

• Molecular and Population Genetics (MPG) research at ICR DAC and POLA DAC

  Dac EGAC00001000328

• VIB Department of Molecular Genetics DAC AMG and NG

  Dac EGAC00001000395

• Human Genetics 5, Genome Institute of Singapore.

  Dac EGAC00001000412

• DAC for study Population Structure and Genetic Diversity in Argentinean populations

  Dac EGAC00001000426

• Data Access Committee of National Institute of Genetics of Japan

  Dac EGAC00001000448

• Genetic predisposition to cancer, University of Tampere

  Dac EGAC00001000488

• Pacific Islands RHD Genetics Network Data Access Committee

  Dac EGAC00001000506

• Ludwig Center for Cancer Genetics and Therapeutics at Johns Hopkins

  Dac EGAC00001000507

• DAC for high resolution genomic data generated by the Gisselsson Group at the Department of Clinical Genetics, Lund University.

  Dac EGAC00001000534