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Closing the case of APOE in multiple sclerosis : no association with disease risk in over 29 000 subjects

BACKGROUND: Single nucleotide polymorphisms (SNPs) rs429358 (ε4) and rs7412 (ε2), both invoking changes in the amino-acid sequence of the apolipoprotein E (APOE) gene, have previously been tested for association with multiple sclerosis (MS) risk. However, none of these studies was sufficiently powered to detect modest effect sizes at acceptable type-I error rates. As both SNPs are only imperfectly

Analysis of the IL28RA locus as genetic risk factor for multiple sclerosis

Recently, we reported an association between a SNP in IL28RA and MS. Here, we performed a fine-mapping of the IL28RA locus by genotyping 10 haplotype-tagging SNPs in a Basque-Spanish population. In addition, based on shared genetic risk loci between autoimmune diseases, a psoriasis-associated SNP located at this locus, rs4649203, was genotyped in four independent populations, comprising a total of

ANKRD55 and DHCR7 are novel multiple sclerosis risk loci

Multiple sclerosis (MS) shares some risk genes with other disorders hallmarked by an autoimmune pathogenesis, most notably IL2RA and CLEC16A. We analyzed 10 single-nucleotide polymorphisms (SNPs) in nine risk genes, which recently emerged from a series of non-MS genome-wide association studies (GWAS), in a Spanish cohort comprising 2895 MS patients and 2942 controls. We identified two SNPs associa

The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis

The IL22RA2 locus is associated with risk for multiple sclerosis (MS) but causative variants are yet to be determined. In a single nucleotide polymorphism (SNP) screen of this locus in a Basque population, rs28385692, a rare coding variant substituting Leu for Pro at position 16 emerged significantly (p = 0.02). This variant is located in the signal peptide (SP) shared by the three secreted protei

Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells

Myeloproliferative neoplasms (MPNs) are blood cancers that are characterized by the excessive production of mature myeloid cells and arise from the acquisition of somatic driver mutations in haematopoietic stem cells (HSCs). Epidemiological studies indicate a substantial heritable component of MPNs that is among the highest known for cancers1. However, only a limited number of genetic risk loci ha

Game Love : a categorization model

A game ontology, that is, a categorization with the aim of making sense of games and gaming from a particular perspective, namely love.

ICU prognostication: Time to re-evaluate? Register-based studies on improving prognostication for patients admitted to the intensive care unit (ICU)

Background: ICU prognostication is difficult because of patients’ prior comorbidities and their varied reasons for admission. The model used for ICU prognostication in Sweden is the Simplified Acute Physiology Score 3 (SAPS 3), which uses information gathered within one hour of ICU admission to predict 30-day mortality. Since the SAPS 3 model was introduced, no biomarkers have been added to it to

Tracing the Full Bimolecular Photocycle of Iron(III)-Carbene Light Harvesters in Electron-Donating Solvents

Photoinduced bimolecular charge transfer processes involving the iron(III) N-heterocyclic carbene (FeNHC) photosensitizer [Fe(phtmeimb)2]+ (phtmeimb = phenyltris(3-methyl-imidazolin-2-ylidene)borate) and triethylamine as well as N,N-dimethylaniline donors have been studied using optical spectroscopy. The full photocycle of charge separation and recombination down to ultrashort time scales was stud

Vad spelar roll för föräldrarna?

The focus of this chapter is the conversations with parents that were conducted during the project "Opportunities for preschool in a migrating world". The background for the conversations with parents lies in the preschool staff's perception that what makes their particular approach unique and valuable depends on the time and care they put into contact with the parents. Several aspects of the sect

We Can Only Do It Together: Addressing Global Sustainability Challenges Through a Collaborative Paradigm

Urgent structural change is required in higher education to allow collaboration both within and acrossuniversities so that achieving a rapid sustainability transition can become the overarching and mainpurpose of education, research and work in society. A review of the literature reveals that fragmentation,caused by traditional hierarchical faculty and disciplinary organisation, is a major obstacl

No title

The system of welcoming newly arrived students in Sweden has experienced numerous modifications since its inception. Additionally, because the interpretation of education laws us left to the municipalities and head teachers, the various policies have resulted in a multitude of local practices. Over the years, a very wide range of models for organising newcomer reception have therefore been tried o

Capital goods imports, machinery investment and economic development in the long run : The case of Chile

Introduction Studies about machinery equipment investment have a long tradition in economics and economic history. Since the analysis of the Industrial Revolution and the growth studies of the twentieth century, there are indications that economic growth of countries has a strong nexus with investment in capital formation and speci cally, with the machinery equipment investment. However, in the ca

Gambling in the garden: Pesticide use and risk exposure in Ugandan smallholder farming

The use and promotion of pesticides is on the increase in many sub-Saharan African countries, including in the smallholder sector. This paper stems from placed-based research in Uganda and aims at advancing current knowledge on smallholder farmers' motivations for pesticide use, the extent and character of such use, as well as on lived experiences regarding the impacts of pesticides. Data was gene

Phonon spectral density in a GaAs/AlGaAs double quantum dot

We study phonon emission in a GaAs/AlGaAs double quantum dot by monitoring the tunneling of a single electron between the two dots. We prepare the system such that a known amount of energy is emitted in the transition process. The energy is converted into lattice vibrations, and the resulting tunneling rate depends strongly on the phonon scattering and its effective phonon spectral density. We are

Strandliv

The beach is the main accessible public space for the inhabitants of Gaza, and plays a central role for leisure time and recreation. However, the water is contaminated and dangerous for bathing, which reflects the major issues Gaza faces with wastewater treatment and adequate infrastructure.

Long-term cement hydration studies with isothermal calorimetry

The purpose of this study was to investigate for how long the thermal power of hydration can be measured with isothermal calorimetry, which is a general measurement technique with stable properties that, in many cases, can detect low rates of processes. Measurements were conducted for 365 days on cement paste with Portland cement, fly ash blended Portland cement and different water-to-binder ratio

International manufacturing relocation - the phenomenon of backshoring

Recently, firms have started to bring back once offshored manufacturing activities from far distant locations, an activity referred to as backshoring. The purpose of this thesis is to contribute to the understanding of the backshoring phenomenon by answering four research questions related to different aspects of manufacturing relocation. Thereby, the thesis makes several important contributions t

Så skapar nanoteknik nya vägar till stamcellers inre

Forskare vid Lunds universitet har utvecklat en lovande nanoteknikbaserad metod för att leverera biomolekyler till mänskliga blodstamceller. Metodens förmåga att bibehålla cellernas funktion utan någon negativ påverkan har stor potential inom både grundforskning och kliniska tillämpningar. Här beskrivs den nya kunskapen av forskarna Ludwig Schmiderer, Jonas Larsson och Martin Hjort vid Lunds unive