| 1. |
- Tragante, Vinicius, et al.
(författare)
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Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci.
- 2014
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297. ; 94:3, s. 349-360
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Tidskriftsartikel (refereegranskat)abstract
- Blood pressure (BP) is a heritable risk factor for cardiovascular disease. To investigate genetic associations with systolic BP (SBP), diastolic BP (DBP), mean arterial pressure (MAP), and pulse pressure (PP), we genotyped ∼50,000 SNPs in up to 87,736 individuals of European ancestry and combined these in a meta-analysis. We replicated findings in an independent set of 68,368 individuals of European ancestry. Our analyses identified 11 previously undescribed associations in independent loci containing 31 genes including PDE1A, HLA-DQB1, CDK6, PRKAG2, VCL, H19, NUCB2, RELA, HOXC@ complex, FBN1, and NFAT5 at the Bonferroni-corrected array-wide significance threshold (p < 6 × 10(-7)) and confirmed 27 previously reported associations. Bioinformatic analysis of the 11 loci provided support for a putative role in hypertension of several genes, such as CDK6 and NUCB2. Analysis of potential pharmacological targets in databases of small molecules showed that ten of the genes are predicted to be a target for small molecules. In summary, we identified previously unknown loci associated with BP. Our findings extend our understanding of genes involved in BP regulation, which may provide new targets for therapeutic intervention or drug response stratification.
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| 2. |
- Andersson, Christer, et al.
(författare)
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Trust in PRIME
- 2005
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Ingår i: Proceedings of the 5<sup>th </sup>IEEE International Symposium on Signal Processing and IT. - : IEEE conference proceedings. - 0780393139 ; , s. 552-559
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- The PRIME project develops privacy enhancing identity management systems that allow users in various application areas such as e-commerce to regain control over their personal spheres. This paper introduces the PRIME technical architecture that also includes special trust-enhancing mechanisms, and shows how PRIME technologies can enhance privacy and trust of e-shopping customers. It also discusses the socio-psychological factors and HCI aspects influencing the end user's trust in privacy enhancing identity management, and shows why HCI research, user studies, and socio-psychological research, are necessary efforts to accompany system design.
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| 3. |
- Bentham, James, et al.
(författare)
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A century of trends in adult human height
- 2016
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Ingår i: eLIFE. - 2050-084X. ; 5
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Tidskriftsartikel (refereegranskat)abstract
- Being taller is associated with enhanced longevity, and higher education and earnings. We reanalysed 1472 population-based studies, with measurement of height on more than 18.6 million participants to estimate mean height for people born between 1896 and 1996 in 200 countries. The largest gain in adult height over the past century has occurred in South Korean women and Iranian men, who became 20.2 cm (95% credible interval 17.522.7) and 16.5 cm (13.319.7) taller, respectively. In contrast, there was little change in adult height in some sub-Saharan African countries and in South Asia over the century of analysis. The tallest people over these 100 years are men born in the Netherlands in the last quarter of 20th century, whose average heights surpassed 182.5 cm, and the shortest were women born in Guatemala in 1896 (140.3 cm; 135.8144.8). The height differential between the tallest and shortest populations was 19-20 cm a century ago, and has remained the same for women and increased for men a century later despite substantial changes in the ranking of countries.
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| 4. |
- Bentham, James, et al.
(författare)
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A century of trends in adult human height
- 2016
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Ingår i: eLIFE. - : eLife Sciences Publications Ltd. - 2050-084X. ; 5
-
Tidskriftsartikel (refereegranskat)abstract
- Being taller is associated with enhanced longevity, and higher education and earnings. We reanalysed 1472 population-based studies, with measurement of height on more than 18.6 million participants to estimate mean height for people born between 1896 and 1996 in 200 countries. The largest gain in adult height over the past century has occurred in South Korean women and Iranian men, who became 20.2 cm (95% credible interval 17.5–22.7) and 16.5 cm (13.3– 19.7) taller, respectively. In contrast, there was little change in adult height in some sub-Saharan African countries and in South Asia over the century of analysis. The tallest people over these 100 years are men born in the Netherlands in the last quarter of 20th century, whose average heights surpassed 182.5 cm, and the shortest were women born in Guatemala in 1896 (140.3 cm; 135.8– 144.8). The height differential between the tallest and shortest populations was 19-20 cm a century ago, and has remained the same for women and increased for men a century later despite substantial changes in the ranking of countries.
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| 5. |
- Berndt, Sonja I., et al.
(författare)
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Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:5, s. 501-U69
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Tidskriftsartikel (refereegranskat)abstract
- Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether these loci are generalizable to the broader population. In a genome-wide search for loci associated with the upper versus the lower 5th percentiles of body mass index, height and waist-to-hip ratio, as well as clinical classes of obesity, including up to 263,407 individuals of European ancestry, we identified 4 new loci (IGFBP4, H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci (HNF4G, RPTOR, GNAT2, MRPS33P4, ADCY9, HS6ST3 and ZZZ3) for clinical classes of obesity. Further, we find a large overlap in genetic structure and the distribution of variants between traits based on extremes and the general population and little etiological heterogeneity between obesity subgroups.
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| 6. |
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| 7. |
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| 8. |
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| 9. |
- Do, Ron, et al.
(författare)
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Common variants associated with plasma triglycerides and risk for coronary artery disease
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:11, s. 1345-
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Tidskriftsartikel (refereegranskat)abstract
- Triglycerides are transported in plasma by specific triglyceride-rich lipoproteins; in epidemiological studies, increased triglyceride levels correlate with higher risk for coronary artery disease (CAD). However, it is unclear whether this association reflects causal processes. We used 185 common variants recently mapped for plasma lipids (P < 5 x 10(-8) for each) to examine the role of triglycerides in risk for CAD. First, we highlight loci associated with both low-density lipoprotein cholesterol (LDL-C) and triglyceride levels, and we show that the direction and magnitude of the associations with both traits are factors in determining CAD risk. Second, we consider loci with only a strong association with triglycerides and show that these loci are also associated with CAD. Finally, in a model accounting for effects on LDL-C and/or high-density lipoprotein cholesterol (HDL-C) levels, the strength of a polymorphism's effect on triglyceride levels is correlated with the magnitude of its effect on CAD risk. These results suggest that triglyceride-rich lipoproteins causally influence risk for CAD.
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| 10. |
- Ebner, Natalie C., et al.
(författare)
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Oxytocin modulates meta-mood as a function of age and sex
- 2015
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Ingår i: Frontiers in Aging Neuroscience. - : Frontiers Media SA. - 1663-4365. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- Attending to and understanding one's own feelings are components of meta mood and constitute important socio-affective skills across the entire lifespan. Growing evidence suggests a modulatory role of the neuropeptide oxytocin on various socio-affective processes. Going beyond previous work that almost exclusively examined young men and perceptions of emotions in others, the current study investigated effects of intranasal oxytocin on meta-mood in young and older men and women. In a double-blind between-group design, participants were randomly assigned to self-administer either intranasal oxytocin or a placebo before responding to items from the Trait Meta Mood Scale (TMMS) about attention to feelings and clarity of feelings. In contrast to older women, oxytocin relative to placebo increased attention to feelings in older men. Oxytocin relative to placebo enhanced meta-mood in young female participants but reduced it in older female participants. This pattern of findings supports an age- and sex-differential modulatory function of the neuropeptide oxytocin on meta-mood, possibly associated with neurobiological differences with age and sex.
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| 11. |
- Ebner, Natalie C., et al.
(författare)
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Oxytocin’s effect on resting-state functional connectivity varies by age and sex
- 2016
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Ingår i: Psychoneuroendocrinology. - : Elsevier BV. - 0306-4530 .- 1873-3360. ; 69, s. 50-59
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Tidskriftsartikel (refereegranskat)abstract
- The neuropeptide oxytocin plays a role in social cognition and affective processing. The neural processes underlying these effects are not well understood. Modulation of connectivity strength between subcortical and cortical regions has been suggested as one possible mechanism. The current study investigated effects of intranasal oxytocin administration on resting-state functional connectivity between amygdala and medial prefrontal cortex (mPFC), as two regions involved in social-cognitive and affective processing. Going beyond previous work that largely examined young male participants, our study comprised young and older men and women to identify age and sex variations in oxytocin’s central processes. This approach was based on known hormonal differences among these groups and emerging evidence of sex differences in oxytocin’s effects on amygdala reactivity and age-by-sex-modulated effects of oxytocin in affective processing. In a double-blind design, 79 participants were randomly assigned to self-administer either intranasal oxytocin or placebo before undergoing resting-state functional magnetic resonance imaging. Using a targeted region-to-region approach, resting-state functional connectivity strength between bilateral amygdala and mPFC was examined. Participants in the oxytocin compared to the placebo group and men compared to women had overall greater amygdala–mPFC connectivity strength at rest. These main effects were qualified by a significant three-way interaction: while oxytocin compared to placebo administration increased resting-state amygdala–mPFC connectivity for young women, oxytocin did not significantly influence connectivity in the other age-by-sex subgroups. This study provides novel evidence of age-by-sex differences in how oxytocin modulates resting-state brain connectivity, furthering our understanding of how oxytocin affects brain networks at rest.
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| 12. |
- Ganesh, Santhi K., et al.
(författare)
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Loci influencing blood pressure identified using a cardiovascular gene-centric array
- 2013
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 22:8, s. 1663-1678
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Tidskriftsartikel (refereegranskat)abstract
- Blood pressure (BP) is a heritable determinant of risk for cardiovascular disease (CVD). To investigate genetic associations with systolic BP (SBP), diastolic BP (DBP), mean arterial pressure (MAP) and pulse pressure (PP), we genotyped 50 000 single-nucleotide polymorphisms (SNPs) that capture variation in 2100 candidate genes for cardiovascular phenotypes in 61 619 individuals of European ancestry from cohort studies in the USA and Europe. We identified novel associations between rs347591 and SBP (chromosome 3p25.3, in an intron of HRH1) and between rs2169137 and DBP (chromosome1q32.1 in an intron of MDM4) and between rs2014408 and SBP (chromosome 11p15 in an intron of SOX6), previously reported to be associated with MAP. We also confirmed 10 previously known loci associated with SBP, DBP, MAP or PP (ADRB1, ATP2B1, SH2B3/ATXN2, CSK, CYP17A1, FURIN, HFE, LSP1, MTHFR, SOX6) at array-wide significance (P 2.4 10(6)). We then replicated these associations in an independent set of 65 886 individuals of European ancestry. The findings from expression QTL (eQTL) analysis showed associations of SNPs in the MDM4 region with MDM4 expression. We did not find any evidence of association of the two novel SNPs in MDM4 and HRH1 with sequelae of high BP including coronary artery disease (CAD), left ventricular hypertrophy (LVH) or stroke. In summary, we identified two novel loci associated with BP and confirmed multiple previously reported associations. Our findings extend our understanding of genes involved in BP regulation, some of which may eventually provide new targets for therapeutic intervention.
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| 13. |
- Gulliford, Desiree, et al.
(författare)
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Gender-differential effects of intranasal oxytocin on resting-state anterior cingulate activity
- 2017
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Konferensbidrag (refereegranskat)abstract
- Introduction: As individuals age, there is an increased focus on social relationships (Carstensen, 2006). However, age-related changes in the brain can interfere with social functioning (Ebner, et al, 2012; Mather, et al, 2005; Ruffman, et al, 2008). While age-related changes in cognition are well studied, social-cognitive changes in aging are still underinvestigated, especially the brain mechanisms underlying this phenomenon. The administration of intranasal oxytocin (OT) has the potential to modulate social cognition (De Dreu, 2014) by altering BOLD signal in regions of the social brain (eg. amygdala and vmPFC) (Ebner, et al, 2016). Currently, there is very little known about the role of OT in human development in aging (Campbell, et al, 2014; Huffmeijer, et al, 2012). Methods: 40 young (18–31 years, 50% female) and 39 older (63–81 years, 59% female) were randomly assigned (in a double-blind design) to self-administer either 24 UIs of intranasal OT or placebo (P) 70-90 minutes prior to resting-state fMRI. T1-weighted anatomical reference images, using an MP-RAGE sequence (sagittal plane, FOV = 240 mm × 240 mm × 170; 1 × 1 × 1 mm isotropic voxels), and functional gradient-echo-planar imaging (EPI) data, during an open-eye, white cross-hair on black background, 8 minute resting-state scan (38 interleaved slices, TR 2 sec, TE 30 msec, FOV 252 × 252 × 133 mm, 80 × 80 × 38 mm matrix, flip angle 90°, in plane resolution of 3.15 × 3.15 mm, slice thickness 3.5 mm, 0 mm skip), were acquired with a 3T Philips Achieva MR Scanner using a 32-channel head coil. Preprocessing, including slice time correction, motion correction with artifact rejection, spatial normalization, and smoothing with an 8 mm Gaussian kernel, were implemented with Functional Connectivity Toolbox (Whitfield-Gabrieli, et al, 2012; http://www.nitrc.org/projects/conn/). Results: Younger individuals showed significantly greater overall anterior cingulate (AC) activity in P condition (p=.044). Intranasal OT administration significantly increased activity in the AC in both younger and older women (p=.024), but not men, when compared to P. The effect was slightly greater in older women than younger, but this effect was not significant potentially due to sample size.There were no significant gender effects in AC activity during rest between males and females in either younger or older P control groups. Conclusions: Intranasal OT has differential gender effects on AC activity during resting-state, increasing activity in women but not men. Additionally, there is evidence for age differences in overall AC activity at rest.
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| 14. |
- Hartswood, Mark, et al.
(författare)
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Privacy for Peer Profiling in Collective Adaptive Systems
- 2015
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Ingår i: Privacy and Identity Management for the Future Internet in the Age of Globalisation. - Cham : Springer. - 9783319186207 ; , s. 237-252
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Bokkapitel (refereegranskat)abstract
- In this paper, we introduce a privacy-enhanced Peer Manager, which is a fundamental building block for the implementation of a privacy-preserving collective adaptive systems computing platform. The Peer Manager is a user-centered identity management platform that keeps information owned by a user private and is built upon an attribute-based privacy policy. Furthermore, this paper explores the ethical, privacy and social values aspects of collective adaptive systems and their extensive capacity to transform lives. We discuss the privacy, social and ethical issues around profiles and present their legal privacy requirements from the European legislation perspective.
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| 15. |
- He, Jia, et al.
(författare)
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Socially Desirable Responding : Enhancement and Denial in 20 Countries
- 2015
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Ingår i: Cross-cultural research. - : SAGE Publications. - 1069-3971 .- 1552-3578. ; 49:3, s. 227-249
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Tidskriftsartikel (refereegranskat)abstract
- This article investigated the dimensionality, measurement invariance, and cross-cultural variations of social desirability. A total of 3,471 university students from 20 countries completed an adapted version of the Marlowe-Crowne scale. A two-dimensional structure was revealed in the pooled sample, distinguishing enhancement (endorsement of positive self-description) and denial (rejection of negative self-description). The factor structure was supported in most countries; medium-sized item bias was found in two denial items. In a multilevel analysis, we found that (a) there was more cross-cultural variation in denial than enhancement; (b) females tended to score higher on enhancement whereas males tended to score higher on denial; (c) the Human Development Index, an indicator of country socioeconomic development, was the best (negative) predictor of denial; and (d) both enhancement and denial seemed to be associated with country-level values and personality pertinent to fitting in. We conclude that social desirability has a positive and a negative impression management dimension that are meaningfully associated with country-level characteristics, and we argue that social desirability is better interpreted as culturally regulated response amplification.
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| 16. |
- Iwaya, L H, et al.
(författare)
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Ontology-based Obfuscation and Anonymisation for Privacy : A Case Study on Healthcare
- 2016
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Ingår i: Privacy and Identity Management. - Cham : Springer. - 9783319417622 - 9783319824239 - 9783319417639 ; , s. 343-358
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Konferensbidrag (refereegranskat)abstract
- Healthcare Information Systems typically fall into the group of systems in which the need of data sharing conflicts with the privacy. A myriad of these systems have to, however, constantly communicate among each other. One of the ways to address the dilemma between data sharing and privacy is to use data obfuscation by lowering data accuracy to guarantee patient’s privacy while retaining its usefulness. Even though many obfuscation methods are able to handle numerical values, the obfuscation of non-numerical values (e.g., textual information) is not as trivial, yet extremely important to preserve data utility along the process. In this paper, we preliminary investigate how to exploit ontologies to create obfuscation mechanism for releasing personal and electronic health records (PHR and EHR) to selected audiences with different degrees of obfuscation. Data minimisation and access control should be supported to enforce different actors, e.g., doctors, nurses and managers, will get access to no more information than needed for their tasks. Besides that, ontology-based obfuscation can also be used for the particular case of data anonymisation. In such case, the obfuscation has to comply with a specific criteria to provide anonymity, so that the data set could be safely released. This research contributes to: state the problems in the area; review related privacy and data protection legal requirements; discuss ontology-based obfuscation and anonymisation methods; and define relevant healthcare use cases. As a result, we present the early concept of our Ontology-based Data Sharing Service (O-DSS) that enforces patient’s privacy by means of obfuscation and anonymisation functions.
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| 17. |
- Knief, Ulrich, et al.
(författare)
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Highly pathogenic avian influenza causes mass mortality in Sandwich Tern Thalasseus sandvicensis breeding colonies across north-western Europe
- 2024
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Ingår i: Bird conservation international. - : Cambridge University Press. - 0959-2709 .- 1474-0001. ; 34
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Tidskriftsartikel (refereegranskat)abstract
- In 2022, highly pathogenic avian influenza (HPAI) A(H5N1) virus clade 2.3.4.4b became enzootic and caused mass mortality in Sandwich TernThalasseus sandvicensis and other seabird species across north-western Europe. We present data on the characteristics of the spread of the virus between and within breeding colonies and the number of dead adult Sandwich Terns recorded at breeding sites throughout north-western Europe. Within two months of the first reported mortalities, 20,531 adult Sandwich Terns were found dead, which is >17% of the total north-western European breeding population. This is probably an under-representation of total mortality, as many carcasses are likely to have gone unnoticed and unreported. Within affected colonies, almost all chicks died. After the peak of the outbreak, in a colony established by late breeders, 25.7% of tested adults showed immunity to HPAI subtype H5. Removal of carcasses was associated with lower levels of mortality at affected colonies. More research on the sources and modes of transmission, incubation times, effective containment, and immunity is urgently needed to combat this major threat for colonial seabirds.
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| 18. |
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| 19. |
- Locke, Adam E, et al.
(författare)
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Genetic studies of body mass index yield new insights for obesity biology.
- 2015
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 518:7538, s. 197-401
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Tidskriftsartikel (refereegranskat)abstract
- Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10(-8)), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ∼2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.
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| 20. |
- Mahajan, Anubha, et al.
(författare)
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Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
- 2022
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Ingår i: Nature Genetics. - : Springer Nature. - 1061-4036 .- 1546-1718. ; 54:5, s. 560-572
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Tidskriftsartikel (refereegranskat)abstract
- We assembled an ancestrally diverse collection of genome-wide association studies (GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls (48.9% non-European descent) through the Diabetes Meta-Analysis of Trans-Ethnic association studies (DIAMANTE) Consortium. Multi-ancestry GWAS meta-analysis identified 237 loci attaining stringent genome-wide significance (P < 5 x 10(-9)), which were delineated to 338 distinct association signals. Fine-mapping of these signals was enhanced by the increased sample size and expanded population diversity of the multi-ancestry meta-analysis, which localized 54.4% of T2D associations to a single variant with >50% posterior probability. This improved fine-mapping enabled systematic assessment of candidate causal genes and molecular mechanisms through which T2D associations are mediated, laying the foundations for functional investigations. Multi-ancestry genetic risk scores enhanced transferability of T2D prediction across diverse populations. Our study provides a step toward more effective clinical translation of T2D GWAS to improve global health for all, irrespective of genetic background. Genome-wide association and fine-mapping analyses in ancestrally diverse populations implicate candidate causal genes and mechanisms underlying type 2 diabetes. Trans-ancestry genetic risk scores enhance transferability across populations.
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| 21. |
- McMillan, Donald, 1981-, et al.
(författare)
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Human-Robot Conversational Interaction (HRCI)
- 2023
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Ingår i: HRI 2023. - New York, NY, USA : Association for Computing Machinery (ACM). ; , s. 923-925, s. 923-925
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Konferensbidrag (refereegranskat)abstract
- Conversation is one of the primary methods of interaction between humans and robots. It provides a natural way of communication with the robot, thereby reducing the obstacles that can be faced through other interfaces (e.g., text or touch) that may cause difficulties to certain populations, such as the elderly or those with disabilities, promoting inclusivity in Human-Robot Interaction (HRI).Work in HRI has contributed significantly to the design, understanding and evaluation of human-robot conversational interactions. Concurrently, the Conversational User Interfaces (CUI) community has developed with similar aims, though with a wider focus on conversational interactions across a range of devices and platforms. This workshop aims to bring together the CUI and HRI communities to outline key shared opportunities and challenges in developing conversational interactions with robots, resulting in collaborative publications targeted at the CUI 2023 provocations track.
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| 22. |
- Pearson, Siani, et al.
(författare)
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Accountability for cloud and other future Internet services
- 2012
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Ingår i: 2012 IEEE 4th International Conference on Cloud Computing Technology and Science (CloudCom). - : IEEE. - 9781467345118 - 9781467345095 ; , s. 629-632
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Konferensbidrag (refereegranskat)abstract
- Cloud and IT service providers should act as responsible stewards for the data of their customers and users. However, the current absence of accountability frameworks for distributed IT services makes it difficult for users to understand, influence and determine how their service providers honour their obligations. The A4Cloud project will create solutions to support users in deciding and tracking how their data is used by cloud service providers. By combining methods of risk analysis, policy enforcement, monitoring and compliance auditing with tailored IT mechanisms for security, assurance and redress, A4Cloud aims to extend accountability across entire cloud service value chains, covering personal and business sensitive information in the cloud
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| 23. |
- Pick, Cari M., et al.
(författare)
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Fundamental social motives measured across forty-two cultures in two waves
- 2022
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Ingår i: Scientific Data. - : Springer Nature. - 2052-4463. ; 9
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Tidskriftsartikel (refereegranskat)abstract
- How does psychology vary across human societies? The fundamental social motives framework adopts an evolutionary approach to capture the broad range of human social goals within a taxonomy of ancestrally recurring threats and opportunities. These motives-self-protection, disease avoidance, affiliation, status, mate acquisition, mate retention, and kin care-are high in fitness relevance and everyday salience, yet understudied cross-culturally. Here, we gathered data on these motives in 42 countries (N = 15,915) in two cross-sectional waves, including 19 countries (N = 10,907) for which data were gathered in both waves. Wave 1 was collected from mid-2016 through late 2019 (32 countries, N = 8,998; 3,302 male, 5,585 female; M-age = 24.43, SD = 7.91). Wave 2 was collected from April through November 2020, during the COVID-19 pandemic (29 countries, N = 6,917; 2,249 male, 4,218 female; M-age = 28.59, SD = 11.31). These data can be used to assess differences and similarities in people's fundamental social motives both across and within cultures, at different time points, and in relation to other commonly studied cultural indicators and outcomes.
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| 24. |
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| 25. |
- Ried, Janina S., et al.
(författare)
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A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape
- 2016
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is represented by a combination of anthropometric traits. We developed an approach that calculates averaged PCs (AvPCs) representing body shape derived from six anthropometric traits (body mass index, height, weight, waist and hip circumference, waist-to-hip ratio). The first four AvPCs explain >99% of the variability, are heritable, and associate with cardiometabolic outcomes. We performed genome-wide association analyses for each body shape composite phenotype across 65 studies and meta-analysed summary statistics. We identify six novel loci: LEMD2 and CD47 for AvPC1, RPS6KA5/C14orf159 and GANAB for AvPC3, and ARL15 and ANP32 for AvPC4. Our findings highlight the value of using multiple traits to define complex phenotypes for discovery, which are not captured by single-trait analyses, and may shed light onto new pathways.
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| 26. |
- Shungin, Dmitry, et al.
(författare)
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New genetic loci link adipose and insulin biology to body fat distribution.
- 2015
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 518:7538, s. 187-378
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Tidskriftsartikel (refereegranskat)abstract
- Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.
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| 27. |
- Stolk, Lisette, et al.
(författare)
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Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways
- 2012
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:3, s. 260-268
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Tidskriftsartikel (refereegranskat)abstract
- To newly identify loci for age at natural menopause, we carried out a meta-analysis of 22 genome-wide association studies (GWAS) in 38,968 women of European descent, with replication in up to 14,435 women. In addition to four known loci, we identified 13 loci newly associated with age at natural menopause (at P < 5 × 10(-8)). Candidate genes located at these newly associated loci include genes implicated in DNA repair (EXO1, HELQ, UIMC1, FAM175A, FANCI, TLK1, POLG and PRIM1) and immune function (IL11, NLRP11 and PRRC2A (also known as BAT2)). Gene-set enrichment pathway analyses using the full GWAS data set identified exoDNase, NF-κB signaling and mitochondrial dysfunction as biological processes related to timing of menopause.
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| 28. |
- Willer, Cristen J., et al.
(författare)
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Discovery and refinement of loci associated with lipid levels
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:11, s. 1274-1283
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Tidskriftsartikel (refereegranskat)abstract
- Levels of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, triglycerides and total cholesterol are heritable, modifiable risk factors for coronary artery disease. To identify new loci and refine known loci influencing these lipids, we examined 188,577 individuals using genome-wide and custom genotyping arrays. We identify and annotate 157 loci associated with lipid levels at P < 5 x 10(-8), including 62 loci not previously associated with lipid levels in humans. Using dense genotyping in individuals of European, East Asian, South Asian and African ancestry, we narrow association signals in 12 loci. We find that loci associated with blood lipid levels are often associated with cardiovascular and metabolic traits, including coronary artery disease, type 2 diabetes, blood pressure, waist-hip ratio and body mass index. Our results demonstrate the value of using genetic data from individuals of diverse ancestry and provide insights into the biological mechanisms regulating blood lipids to guide future genetic, biological and therapeutic research.
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