| 1. |
- Benardou, Agiatis, et al.
(författare)
-
State of the art report on digital research practices, tools and scholarly content use : Deliverable D1.2
- 2013
-
Rapport (övrigt vetenskapligt/konstnärligt)abstract
- This document constitutes desk research to analyse the current situation related to digital research practices, tools and content for the humanities and social sciences research communities and it comprises of three Milestones submitted separately in the course of the first nine months of the Project, each corresponding to digital research practices, tools and content respectively. Moreover, this report will serve as an exploratory stage which will provide the basis for the confirmation stage, that is the web survey undertaken within Task 1.3, relying heavily on work previously presented in Deliverable 1.1 (Research Communities Identification and Definition Report), in which the humanities and social sciences research communities were largely identified. The Research Communities Web Survey (T.1.3.4), which has been completed and is currently being processed, encompasses - amongst others -questions pertaining to the activities undertaken by Humanities and Social Sciences researchers, as well as questions regarding the use of content and metadata. This current document provides the background work which guided the design of the Web Survey and is meant to complement the related Web Survey findings which will comprise the User Requirements and Case Studies Analysis report, D1.3. Moreover, this work draws from and complements Deliverable 1.5 (Case Studies Expert Forum Report. The present desk research seeks to analyse the current situation related to digital research practices, tools and content for the humanities and social sciences research community, and will serve as an exploratory stage which will provide the basis for the confirmatory stage, that is the Content Strategy and User Requirements reports, due later on in the Project.
|
|
| 2. |
- Cox, Angela, et al.
(författare)
-
A common coding variant in CASP8 is associated with breast cancer risk
- 2007
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 39:3, s. 352-358
-
Tidskriftsartikel (refereegranskat)abstract
- The Breast Cancer Association Consortium (BCAC) has been established to conduct combined case-control analyses with augmented statistical power to try to confirm putative genetic associations with breast cancer. We genotyped nine SNPs for which there was some prior evidence of an association with breast cancer: CASP8 D302H (rs1045485), IGFBP3 -202 C --> A (rs2854744), SOD2 V16A (rs1799725), TGFB1 L10P (rs1982073), ATM S49C (rs1800054), ADH1B 3' UTR A --> G (rs1042026), CDKN1A S31R (rs1801270), ICAM5 V301I (rs1056538) and NUMA1 A794G (rs3750913). We included data from 9-15 studies, comprising 11,391-18,290 cases and 14,753-22,670 controls. We found evidence of an association with breast cancer for CASP8 D302H (with odds ratios (OR) of 0.89 (95% confidence interval (c.i.): 0.85-0.94) and 0.74 (95% c.i.: 0.62-0.87) for heterozygotes and rare homozygotes, respectively, compared with common homozygotes; P(trend) = 1.1 x 10(-7)) and weaker evidence for TGFB1 L10P (OR = 1.07 (95% c.i.: 1.02-1.13) and 1.16 (95% c.i.: 1.08-1.25), respectively; P(trend) = 2.8 x 10(-5)). These results demonstrate that common breast cancer susceptibility alleles with small effects on risk can be identified, given sufficiently powerful studies.
|
|
| 3. |
- O'Seaghdha, Conall M., et al.
(författare)
-
Meta-Analysis of Genome-Wide Association Studies Identifies Six New Loci for Serum Calcium Concentrations
- 2013
-
Ingår i: PLOS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 9:9, s. e1003796-
-
Tidskriftsartikel (refereegranskat)abstract
- Calcium is vital to the normal functioning of multiple organ systems and its serum concentration is tightly regulated. Apart from CASR, the genes associated with serum calcium are largely unknown. We conducted a genome-wide association meta-analysis of 39,400 individuals from 17 population-based cohorts and investigated the 14 most strongly associated loci in <= 21,679 additional individuals. Seven loci (six new regions) in association with serum calcium were identified and replicated. Rs1570669 near CYP24A1 (P = 9.1E-12), rs10491003 upstream of GATA3 (P = 4.8E-09) and rs7481584 in CARS (P = 1.2E-10) implicate regions involved in Mendelian calcemic disorders: Rs1550532 in DGKD (P = 8.2E-11), also associated with bone density, and rs7336933 near DGKH/KIAA0564 (P = 9.1E-10) are near genes that encode distinct isoforms of diacylglycerol kinase. Rs780094 is in GCKR. We characterized the expression of these genes in gut, kidney, and bone, and demonstrate modulation of gene expression in bone in response to dietary calcium in mice. Our results shed new light on the genetics of calcium homeostasis.
|
|
| 4. |
- Schölin, Lisa, et al.
(författare)
-
Exploring practices and perceptions of alcohol use during pregnancy in England and Sweden through a cross-cultural lens
- 2018
-
Ingår i: European Journal of Public Health. - Oxford, United Kingdom : Oxford University Press. - 1101-1262 .- 1464-360X. ; 28:3, s. 533-537
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Qualitative studies have aimed to understand why some women continue to drink during pregnancy; however, there is a lack of comparative cross-cultural research. We aimed to explore perceptions and practices of alcohol use during pregnancy in England and Sweden.Methods: Semi-structured interviews were conducted with 21 parents in Merseyside, England and 22 parents in Örebro County, Sweden. Interviews were audio recorded, transcribed verbatim and translated. Data were analyzed using thematic analysis.Results: The majority of women in both countries abstained from alcohol when they found out they were pregnant, despite alcohol being part of many social contexts before pregnancy. Nine of the seventeen English women drank at some point during pregnancy, typically on special occasions. Most parents felt women should modify their alcohol intake when they become mothers, though several English parents argued that responsible motherhood did not necessarily equate to abstinence. Swedish parents held strong opinions against drinking during pregnancy and argued that any amount of alcohol could harm the foetus. English parents' opinions were divided; some were skeptical of whether low to moderate drinking was associated with risks.Conclusions: Practices and attitudes towards alcohol use during pregnancy and views on foetal rights and responsibilities of pregnant women differed in England and Sweden. Shared social norms around drinking may be shaped within the policy context of pregnancy drinking guidelines, determining whether women consume alcohol or not.
|
|
