| 1. |
- Heid, Iris M, et al.
(författare)
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Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:11, s. 949-960
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Tidskriftsartikel (refereegranskat)abstract
- Waist-hip ratio (WHR) is a measure of body fat distribution and a predictor of metabolic consequences independent of overall adiposity. WHR is heritable, but few genetic variants influencing this trait have been identified. We conducted a meta-analysis of 32 genome-wide association studies for WHR adjusted for body mass index (comprising up to 77,167 participants), following up 16 loci in an additional 29 studies (comprising up to 113,636 subjects). We identified 13 new loci in or near RSPO3, VEGFA, TBX15-WARS2, NFE2L3, GRB14, DNM3-PIGC, ITPR2-SSPN, LY86, HOXC13, ADAMTS9, ZNRF3-KREMEN1, NISCH-STAB1 and CPEB4 (P = 1.9 × 10⁻⁹ to P = 1.8 × 10⁻⁴⁰) and the known signal at LYPLAL1. Seven of these loci exhibited marked sexual dimorphism, all with a stronger effect on WHR in women than men (P for sex difference = 1.9 × 10⁻³ to P = 1.2 × 10⁻¹³). These findings provide evidence for multiple loci that modulate body fat distribution independent of overall adiposity and reveal strong gene-by-sex interactions.
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| 2. |
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| 3. |
- Lango Allen, Hana, et al.
(författare)
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Hundreds of variants clustered in genomic loci and biological pathways affect human height.
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 467:7317, s. 832-8
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Tidskriftsartikel (refereegranskat)abstract
- Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P<0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.
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| 4. |
- Speliotes, Elizabeth K., et al.
(författare)
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Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:11, s. 937-948
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Tidskriftsartikel (refereegranskat)abstract
- Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined associations between body mass index and ~2.8 million SNPs in up to 123,865 individuals with targeted follow up of 42 SNPs in up to 125,931 additional individuals. We confirmed 14 known obesity susceptibility loci and identified 18 new loci associated with body mass index (P < 5 × 10−8), one of which includes a copy number variant near GPRC5B. Some loci (at MC4R, POMC, SH2B1 and BDNF) map near key hypothalamic regulators of energy balance, and one of these loci is near GIPR, an incretin receptor. Furthermore, genes in other newly associated loci may provide new insights into human body weight regulation.
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| 5. |
- Ahola, Virpi, et al.
(författare)
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The Glanville fritillary genome retains an ancient karyotype and reveals selective chromosomal fusions in Lepidoptera
- 2014
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 5, s. 4737-
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Tidskriftsartikel (refereegranskat)abstract
- Previous studies have reported that chromosome synteny in Lepidoptera has been well conserved, yet the number of haploid chromosomes varies widely from 5 to 223. Here we report the genome (393 Mb) of the Glanville fritillary butterfly (Melitaea cinxia; Nymphalidae), a widely recognized model species in metapopulation biology and eco-evolutionary research, which has the putative ancestral karyotype of n = 31. Using a phylogenetic analyses of Nymphalidae and of other Lepidoptera, combined with orthologue-level comparisons of chromosomes, we conclude that the ancestral lepidopteran karyotype has been n = 31 for at least 140 My. We show that fusion chromosomes have retained the ancestral chromosome segments and very few rearrangements have occurred across the fusion sites. The same, shortest ancestral chromosomes have independently participated in fusion events in species with smaller karyotypes. The short chromosomes have higher rearrangement rate than long ones. These characteristics highlight distinctive features of the evolutionary dynamics of butterflies and moths.
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| 6. |
- Critchley, Kim A, et al.
(författare)
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Student experiences with an international public health exchange project
- 2009
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Ingår i: Nurse educator. - 0363-3624. ; 34:2, s. 69-74
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Tidskriftsartikel (refereegranskat)abstract
- With growing interconnectivity of healthcare systems worldwide and increased immigration, inappropriate cultural and role assumptions are often seen when cultures clash within a country or when there is practice across country boundaries in times of disaster and during international travel. To increase students' multicultural awareness and work experiences abroad, the authors describe a 7-school, 5-country international student exchange project. The authors also share the students' evaluations of their experiences as they are challenged to erase boundaries and embrace nursing across countries. Participating faculty describe the process, challenges, and keys to success found in creating and living this international project. Students involved in the exchange process evaluate the learning opportunities and challenges and the joy of coming together as newfound colleagues and friends.
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| 7. |
- Hakapää, Liisa, et al.
(författare)
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MICA - Mobile Internet Connected Assistant
- 2005
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Ingår i: First International Conference on Lifestyle, Health and Technology. - Luleå : Luleå tekniska universitet.
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Konferensbidrag (refereegranskat)
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| 8. |
- Hemingway, Ann, et al.
(författare)
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A European Union and Canadian Review of Public Health Nursing Preparation and Practice
- 2013
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Ingår i: Public Health Nursing. - : Wiley. - 0737-1209 .- 1525-1446. ; 30:1, s. 58-69
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: This study explores the preparation and role of the public health nurse (PHN) across European Union (EU) countries (Finland, Sweden, and the United Kingdom) and Canadian provinces (Alberta, New Brunswick, and Prince Edward Island).METHODS: A literature review including relevant peer reviewed articles from 2000 on, in conjunction, with critical debate was undertaken. The results were considered in relation to the three essential areas of PHN practice, outlined in the World Health Organization (Moving on from Munich: A reference guide to the implementation of the declaration on nurses and midwives: A force for health, 2001b) recommendations, family oriented care, public health action, and policy making.RESULTS: The major challenge the review revealed across a variety of international education and practice environments was the lack of consistent preparation for and engagement with leadership and policy making in practice.
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| 9. |
- Husu, Liisa, 1953-, et al.
(författare)
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Gendering excellence in technological reseach : a comparative European perspective
- 2010
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Ingår i: Journal of Technology Management & Innovation. - 0718-2724. ; 5:1, s. 127-139
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Tidskriftsartikel (refereegranskat)abstract
- Gender patterns in technological and engineering research careers were explored in the EU funded 13-country study PROMETEA in 2005-2007, including old and new EU member states, and Serbia, the Russian Federation and Chile. Drawing from this study, the article analyses the gendering of key arenas of excellence in technological and engineering research from a comparative international perspective, with a focus on research funding, publishing, scientific prizes and awards, and patents. A central challenge for gender-sensitive science and research policy is how to combine the promotion of scientific excellence with the promotion of gender equality. Exploring the gendering of excellence in technology and engineering research is of special interest because of the strong position this field enjoys in national, European and international research policy and in national research policies, and also because it continues to be the most male-dominated research field. Furthermore, the article discusses methodological challenges of this type of comparative research.
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| 10. |
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| 11. |
- Koskinen, Liisa, et al.
(författare)
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European Higher Health Care Education Curriculum : Development of a Cultural Framework
- 2012
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Ingår i: Journal of Transcultural Nursing. - : SAGE Publications. - 1043-6596 .- 1552-7832. ; 23:3, s. 313-319
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Tidskriftsartikel (refereegranskat)abstract
- This article concerns the European Curriculum in Cultural Care Project (2005-2009), which aimed at developing a curriculum framework for the enhancement of cultural competence in European health care education. The project was initiated and supported by the Consortium of Institutes in Higher Education in Health and Rehabilitation, whose goal is to nurture educational development and networking among member institutions. The framework is the result of a collaborative endeavor by nine nurse educators from five different European countries. The production of the framework will be described in accordance with the following tenets: developing cultural competence is a continuing process, cultural competence is based on sensitivity toward others, and cultural competence is a process of progressive inquiry. Critique concerning the framework will be presented.
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| 12. |
- Manning, Alisa, et al.
(författare)
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A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk
- 2017
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Ingår i: Diabetes. - : AMER DIABETES ASSOC. - 0012-1797 .- 1939-327X. ; 66:7, s. 2019-2032
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Tidskriftsartikel (refereegranskat)abstract
- To identify novel coding association signals and facilitate characterization of mechanisms influencing glycemic traits and type 2 diabetes risk, we analyzed 109,215 variants derived from exome array genotyping together with an additional 390,225 variants from exome sequence in up to 39,339 normoglycemic individuals from five ancestry groups. We identified a novel association between the coding variant (p.Pro50Thr) in AKT2 and fasting plasma insulin (FI), a gene in which rare fully penetrant mutations are causal for monogenic glycemic disorders. The low-frequency allele is associated with a 12% increase in FI levels. This variant is present at 1.1% frequency in Finns but virtually absent in individuals from other ancestries. Carriers of the FI-increasing allele had increased 2-h insulin values, decreased insulin sensitivity, and increased risk of type 2 diabetes (odds ratio 1.05). In cellular studies, the AKT2-Thr50 protein exhibited a partial loss of function. We extend the allelic spectrum for coding variants in AKT2 associated with disorders of glucose homeostasis and demonstrate bidirectional effects of variants within the pleckstrin homology domain of AKT2.
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| 13. |
- McQuillan, Ruth, et al.
(författare)
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Evidence of Inbreeding Depression on Human Height
- 2012
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Ingår i: PLOS Genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 8:7, s. e1002655-
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Tidskriftsartikel (refereegranskat)abstract
- Stature is a classical and highly heritable complex trait, with 80%–90% of variation explained by genetic factors. In recent years, genome-wide association studies (GWAS) have successfully identified many common additive variants influencing human height; however, little attention has been given to the potential role of recessive genetic effects. Here, we investigated genome-wide recessive effects by an analysis of inbreeding depression on adult height in over 35,000 people from 21 different population samples. We found a highly significant inverse association between height and genome-wide homozygosity, equivalent to a height reduction of up to 3 cm in the offspring of first cousins compared with the offspring of unrelated individuals, an effect which remained after controlling for the effects of socio-economic status, an important confounder (χ2 = 83.89, df = 1; p = 5.2×10−20). There was, however, a high degree of heterogeneity among populations: whereas the direction of the effect was consistent across most population samples, the effect size differed significantly among populations. It is likely that this reflects true biological heterogeneity: whether or not an effect can be observed will depend on both the variance in homozygosity in the population and the chance inheritance of individual recessive genotypes. These results predict that multiple, rare, recessive variants influence human height. Although this exploratory work focuses on height alone, the methodology developed is generally applicable to heritable quantitative traits (QT), paving the way for an investigation into inbreeding effects, and therefore genetic architecture, on a range of QT of biomedical importance.
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| 14. |
- Palmer, Nicholette D, et al.
(författare)
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A genome-wide association search for type 2 diabetes genes in African Americans.
- 2012
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Ingår i: PloS one. - San Francisco : Public Library of Science (PLoS). - 1932-6203. ; 7:1, s. e29202-
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Tidskriftsartikel (refereegranskat)abstract
- African Americans are disproportionately affected by type 2 diabetes (T2DM) yet few studies have examined T2DM using genome-wide association approaches in this ethnicity. The aim of this study was to identify genes associated with T2DM in the African American population. We performed a Genome Wide Association Study (GWAS) using the Affymetrix 6.0 array in 965 African-American cases with T2DM and end-stage renal disease (T2DM-ESRD) and 1029 population-based controls. The most significant SNPs (n = 550 independent loci) were genotyped in a replication cohort and 122 SNPs (n = 98 independent loci) were further tested through genotyping three additional validation cohorts followed by meta-analysis in all five cohorts totaling 3,132 cases and 3,317 controls. Twelve SNPs had evidence of association in the GWAS (P<0.0071), were directionally consistent in the Replication cohort and were associated with T2DM in subjects without nephropathy (P<0.05). Meta-analysis in all cases and controls revealed a single SNP reaching genome-wide significance (P<2.5×10(-8)). SNP rs7560163 (P = 7.0×10(-9), OR (95% CI) = 0.75 (0.67-0.84)) is located intergenically between RND3 and RBM43. Four additional loci (rs7542900, rs4659485, rs2722769 and rs7107217) were associated with T2DM (P<0.05) and reached more nominal levels of significance (P<2.5×10(-5)) in the overall analysis and may represent novel loci that contribute to T2DM. We have identified novel T2DM-susceptibility variants in the African-American population. Notably, T2DM risk was associated with the major allele and implies an interesting genetic architecture in this population. These results suggest that multiple loci underlie T2DM susceptibility in the African-American population and that these loci are distinct from those identified in other ethnic populations.
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| 15. |
- Pesonen, Liisa, et al.
(författare)
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InfoXT - User-centric mobile information management in automated plant production
- 2020
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Nordic knowledge and know-how in the area of agriculture and ICT was extracted and further developed in the joint Nordic project ‘InfoXT - User-centric mobile information management in automated plant production’. The aim of the project was to draw up basic recommendations and guidelines for a novel, intelligent, integrated information and decision support framework for planning and control of mobile working units. Project participants came from Aarhus University - Faculty of Agricultural Sciences, Helsinki University of Technology - Information and Computer Systems in Automation, MTT Agrifood Research Finland, Swedish Institute for Agricultural and Environmental Engineering and VTT - Technical Research Centre of Finland. The work was based on a systems analysis approach that utilised data from earlier and on-going Nordic research and new prototypes as a technology platform. An initial study among Swedish precision farmers revealed user needs in information- and technology-intensive farms. Against this background, a systems concept for information management in mobile plant production environments was designed. The concept was technically validated by implementing new parts in practice. The system usability of the concept was evaluated using scenarios and internet questionnaire in all Nordic countries. The resulting system concept functions as a common description of user-friendly information systems for all actors in the value chain.
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| 16. |
- Sairanen, Raija, et al.
(författare)
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Putting culture in the curriculum : A European project
- 2013
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Ingår i: Nurse Education in Practice. - : Elsevier BV. - 1471-5953 .- 1873-5223. ; 13:2, s. 118-124
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Tidskriftsartikel (refereegranskat)abstract
- The purpose of this paper is to describe the rationale for and the method of designing a framework for a European curriculum to promote intercultural competence in health care students. The background relating to the migration of people into and across Europe is cited as the factor driving the need for such a project. The project group emerged from the European organisation known as COHEHRE (Consortium of Higher Education Institutes in Health and Rehabilitation in Europe). Composed of a group of nurse educators from 5 European countries it charts the process which led them to create a curriculum framework. The completed work is available in the form of a CD-ROM. The paper describes the steps taken to reach the project outcomes over 4 years. The methods of dissemination of the project outcomes are included. The discussion considers the journey of the group towards the outcomes of the project and identifies the need to discover how effective the framework is in achieving the aims of the group. In conclusion it articulates the hope that this work will improve the care which is shown to all recipients of health care whatever their cultural background.
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| 17. |
- Smith, Jennifer A, et al.
(författare)
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Genome-wide association study identifies 74 loci associated with educational attainment
- 2016
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Ingår i: Nature (London). - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 533:7604, s. 539-542
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Tidskriftsartikel (refereegranskat)abstract
- Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals. Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our earlier discovery sample of 101,069 individuals to 293,723 individuals, and a replication study in an independent sample of 111,349 individuals from the UK Biobank. We identify 74 genome-wide significant loci associated with the number of years of schooling completed. Single-nucleotide polymorphisms associated with educational attainment are disproportionately found in genomic regions regulating gene expression in the fetal brain. Candidate genes are preferentially expressed in neural tissue, especially during the prenatal period, and enriched for biological pathways involved in neural development. Our findings demonstrate that, even for a behavioural phenotype that is mostly environmentally determined, a well-powered GWAS identifies replicable associated genetic variants that suggest biologically relevant pathways. Because educational attainment is measured in large numbers of individuals, it will continue to be useful as a proxy phenotype in efforts to characterize the genetic influences of related phenotypes, including cognition and neuropsychiatric diseases.
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