| 1. |
- Sampson, Joshua N., et al.
(author)
-
Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for 13 Cancer Types
- 2015
-
In: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 0027-8874 .- 1460-2105. ; 107:12
-
Journal article (peer-reviewed)abstract
- Background: Studies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites. Methods: Between 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49 492 cancer case patients and 34 131 control patients. We apply novel mixed model methodology (GCTA) to this GWAS data to estimate the heritability of individual cancers, as well as the proportion of heritability attributable to cigarette smoking in smoking-related cancers, and the genetic correlation between pairs of cancers. Results: GWAS heritability was statistically significant at nearly all sites, with the estimates of array-based heritability, h(l)(2), on the liability threshold (LT) scale ranging from 0.05 to 0.38. Estimating the combined heritability of multiple smoking characteristics, we calculate that at least 24% (95% confidence interval [CI] = 14% to 37%) and 7% (95% CI = 4% to 11%) of the heritability for lung and bladder cancer, respectively, can be attributed to genetic determinants of smoking. Most pairs of cancers studied did not show evidence of strong genetic correlation. We found only four pairs of cancers with marginally statistically significant correlations, specifically kidney and testes (rho = 0.73, SE = 0.28), diffuse large B-cell lymphoma (DLBCL) and pediatric osteosarcoma (rho = 0.53, SE = 0.21), DLBCL and chronic lymphocytic leukemia (CLL) (rho = 0.51, SE = 0.18), and bladder and lung (rho = 0.35, SE = 0.14). Correlation analysis also indicates that the genetic architecture of lung cancer differs between a smoking population of European ancestry and a nonsmoking Asian population, allowing for the possibility that the genetic etiology for the same disease can vary by population and environmental exposures. Conclusion: Our results provide important insights into the genetic architecture of cancers and suggest new avenues for investigation.
|
|
| 2. |
- Wang, Zhaoming, et al.
(author)
-
Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33
- 2014
-
In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 23:24, s. 6616-6633
-
Journal article (peer-reviewed)abstract
- Genome-wide association studies (GWAS) have mapped risk alleles for at least 10 distinct cancers to a small region of 63 000 bp on chromosome 5p15.33. This region harbors the TERT and CLPTM1L genes; the former encodes the catalytic subunit of telomerase reverse transcriptase and the latter may play a role in apoptosis. To investigate further the genetic architecture of common susceptibility alleles in this region, we conducted an agnostic subset-based meta-analysis (association analysis based on subsets) across six distinct cancers in 34 248 cases and 45 036 controls. Based on sequential conditional analysis, we identified as many as six independent risk loci marked by common single-nucleotide polymorphisms: five in the TERT gene (Region 1: rs7726159, P = 2.10 × 10(-39); Region 3: rs2853677, P = 3.30 × 10(-36) and PConditional = 2.36 × 10(-8); Region 4: rs2736098, P = 3.87 × 10(-12) and PConditional = 5.19 × 10(-6), Region 5: rs13172201, P = 0.041 and PConditional = 2.04 × 10(-6); and Region 6: rs10069690, P = 7.49 × 10(-15) and PConditional = 5.35 × 10(-7)) and one in the neighboring CLPTM1L gene (Region 2: rs451360; P = 1.90 × 10(-18) and PConditional = 7.06 × 10(-16)). Between three and five cancers mapped to each independent locus with both risk-enhancing and protective effects. Allele-specific effects on DNA methylation were seen for a subset of risk loci, indicating that methylation and subsequent effects on gene expression may contribute to the biology of risk variants on 5p15.33. Our results provide strong support for extensive pleiotropy across this region of 5p15.33, to an extent not previously observed in other cancer susceptibility loci.
|
|
| 3. |
- Arrhenius, Gustaf, et al.
(author)
-
Etiska avvägningar i pandemitider
- 2021
-
In: I en tid av pandemi. - Stockholm : Expertgruppen för studier i offentlig ekonomi, Finansdepartementet. - 9789152500699 ; , s. 59-72
-
Book chapter (pop. science, debate, etc.)
|
|
| 4. |
- Barrett, Damon, 1977-
(author)
-
Drugs and the Convention on the Rights of the Child : Fragmentation, Contention and Structural Bias
- 2018
-
Doctoral thesis (other academic/artistic)abstract
- Responding to the harms caused by drug use and the drug trade is one of the most pressing and interdisciplinary challenges of our time, within which the protection of children has become central. But there has been relatively little academic attention to the international legal dimensions of drug policy, despite the existence of a dedicated international legal framework on the issue and a range of other treaties that include drugs in some way. This has begun to change in recent years as attention to human rights in drug policy has increased, and as calls for reform to the extant international legal regime of drug control have grown. This thesis adds by focusing on the only core UN human rights treaty to refer to drugs – the Convention on the Rights of the Child (CRC). Based on archival research, extensive document analysis, participant observation at UN forums, and semi-structured interviews, the thesis explores how the child’s right to protection from drugs under Article 33 of the CRC has been understood, and what the relationship has been between the CRC and the UN drug control conventions. Adopting a critical approach to child rights studies, it offers a number of additions to the growing literature on international law and drug control:A detailed history of the parallel drafting of the international drug control and child rights legal regimes in the twentieth century, tracing their substantive detachment over time until their political convergence to the height of the ‘war on drugs’ in the late 1980s;A discussion of the CRC and the UN drugs conventions set against the background of the fragmentation of international law, highlighting a degree of surface level coherence yet important inconsistencies of background theory and ethos;An analysis of contemporary debates among scholars, activists, States and UN mechanisms on the relationship between human rights, child rights and drug control, demonstrating the potential for fragmentation playing out in real-world contentions;A comprehensive review and critique of the periodic reporting process to the Committee on the Rights of the Child from 1993-2015 through the theoretical lens of ‘structural bias’, showing that while the CRC may offer an alternative legal lens through which to approach drug policy, the process has tended to lean in favour of a restrictive and often punitive status quo.
|
|
| 5. |
- Bexelius, Maria, et al.
(author)
-
27 forskare : Så kan EU:s murar rivas
- 2015
-
In: Dagens samhälle. - : Sveriges kommuner och landsting. - 1652-6511. ; :20150923
-
Journal article (pop. science, debate, etc.)
|
|
| 6. |
- Boll, Rebecca, et al.
(author)
-
Imaging molecular structure through femtosecond photoelectron diffraction on aligned and oriented gas-phase molecules
- 2014
-
In: Faraday Discussions. - : Royal Society of Chemistry (RSC). - 1364-5498. ; 171, s. 57-80
-
Journal article (peer-reviewed)abstract
- This paper gives an account of our progress towards performing femtosecond time-resolved photoelectron diffraction on gas-phase molecules in a pump-probe setup combining optical lasers and an X-ray free-electron laser. We present results of two experiments aimed at measuring photoelectron angular distributions of laser-aligned 1-ethynyl-4-fluorobenzene (C8H5F) and dissociating, laser-aligned 1,4-dibromobenzene (C6H4Br2) molecules and discuss them in the larger context of photoelectron diffraction on gas-phase molecules. We also show how the strong nanosecond laser pulse used for adiabatically laser-aligning the molecules influences the measured electron and ion spectra and angular distributions, and discuss how this may affect the outcome of future time-resolved photoelectron diffraction experiments.
|
|
| 7. |
- Caffarel-Salvador, Ester, et al.
(author)
-
A microneedle platform for buccal macromolecule delivery
- 2021
-
In: Science Advances. - : American Association for the Advancement of Science (AAAS). - 2375-2548. ; 7:4
-
Journal article (peer-reviewed)abstract
- Alternative means for drug delivery are needed to facilitate drug adherence and administration. Microneedles (MNs) have been previously investigated transdermally for drug delivery. To date, drug loading into MNs has been limited by drug solubility in the polymeric blend. We designed a highly drug-loaded MN patch to deliver macromolecules and applied it to the buccal area, which allows for faster delivery than the skin. We successfully delivered 1-mg payloads of human insulin and human growth hormone to the buccal cavity of swine within 30 s. In addition, we conducted a trial in 100 healthy volunteers to assess potential discomfort associated with MNs when applied in the oral cavity, identifying the hard palate as the preferred application site. We envisage that MN patches applied on buccal surfaces could increase medication adherence and facilitate the painless delivery of biologics and other drugs to many, especially for the pediatric and elderly populations.
|
|
| 8. |
- Daly, Aoife, et al.
(author)
-
UN Convention on the Rights of the Child, Article 2 and Discrimination on the Basis of Childhood : The CRC Paradox?
- 2022
-
In: Nordic Journal of International Law. - : Brill. - 0902-7351 .- 1571-8107. ; 91:3, s. 419-452
-
Journal article (peer-reviewed)abstract
- The crc as an instrument calls attention to children as a group. Yet paradoxically it has not resulted in explicit consideration of discrimination against children on the basis of childhood (i.e. detrimental treatment for being young/under 18) in the same way that has happened for other groups like women and ethnic minorities in instruments drafted specifically for their rights. Children are more likely to suffer poverty and violence than adults, and under-18s are largely excluded from national legislation prohibiting unfair discrimination. In this article the jurisprudence of the Committee on the Rights of the Child is examined and it is established that even though child-specific discriminatory practices such as corporal punishment are criticised by the Committee, they are seldom labelled ‘discrimination’ as such. The Committee reserves consideration of Article 2, which enshrines the principle of non-discrimination, for traditionally disadvantaged groups of children such as girls and ethnic minorities. It is concluded that Article 2 has great potential for drawing attention to detrimental treatment for being young/under 18, but that the phenomenon must be more explicitly referenced with greater frequency in law, practice, and scholarship.
|
|
| 9. |
- Dane, Louise, 1986-
(author)
-
Den reglerade invandringen och barnets bästa : Barns rätt till familjeliv och privatliv enligt barnkonventionen, Europakonventionen, EU-rätten och svensk utlänningslagstiftning
- 2019
-
Doctoral thesis (other academic/artistic)abstract
- This thesis analyses the principle of the best interests of the child and the right to private and family life in relation to the societal interest of controlling immigration. The aim of the thesis is to contribute to ensuring more predictable and transparent legislation and decision-making.States, generally, have the right to control immigration. At the same time, a child’s right to family and private life is a human right – regulated, for example, by the UN Convention of the Rights of the Child, the European Convention on Human Rights and the EU Charter of Fundamental Rights. This means that states can only restrict these rights when such interference is justified. In migration cases concerning private and family life, an assessment therefore must be made as to whether a decision to refuse residence is proportional. When a child is affected by such a decision, the child's best interests must be carefully assessed and taken into consideration. This thesis examines what is legally required of a correct decision in migration cases concerning a child’s right to private and family life. Particular attention is given to those requirements imposed on lawmakers and legal actors by the public law principles of legality, objectivity and proportionality, as well as the duty to give reasoned decisions. This thesis charts the development and foundations of Swedish migration law including those requirements arising from EU and public international law. The focus thereafter is more specifically on the assessments made balancing the interests of children's rights and immigration control.Whether a restriction of the right to private and family life is proportionate is determined by the specific circumstances in the individual case. However, the research conducted demonstrates that there is a lack of guidance concerning which circumstances Swedish legal actors can and should consider, as well as the weight that should be attributed to the considered circumstances. The interest of immigration control is particularly ambiguous. The thesis identifies four types of circumstances that the Swedish lawmaker appears to suggest legal actors consider within this interest; (a) public order and security, (b) maintenance and enforcement of immigration control, (c) national economic well-being (including number of migrants), and (d) protection of the rights and freedoms of others.Lack of clear guidance is problematic, particularly in light of the principles of legality, objectivity and proportionality, as the outcomes of cases depend on what individual legal actors choose to consider. Vague guidance on what constitutes relevant circumstances may also contribute to the problem of poorly formulated decisions as identified in previous research. In order to increase the probability of legal actors rendering more correct decisions – on the basis of applicable law – a five-step model is presented: (1) identifying private and/or family life (2) identifying the child's best interests (3) identifying the underlying motivations linked to the interest of immigration control (4) listing the arguments for and against granting residence in Sweden and (5) determining which interests should prevail.The thesis concludes with a number of recommendations aimed mainly at lawmakers that could contribute to strengthening children's rights and increasing adherence to the rule of law in migration cases concerning children's right to private and family life.
|
|
| 10. |
- Dane, Louise, et al.
(author)
-
Dubbla budskap om barns rättigheter
- 2016
-
In: Svenska Dagbladet - Debatt. - 1101-2412. ; :2016-03-10
-
Journal article (other academic/artistic)abstract
- Flera förslag på senare tid går ut på att vissa grupper av barn som vistas i Sverige ska vägras sina rättigheter. Men när det gäller barn finns i enlighet med barnkonventionen inte utrymme att ge olika rättigheter. Det skriver flera jurister gemensamt.
|
|
