| 1. |
- Finkel, Deborah, et al.
(författare)
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Financial strain moderates genetic influences on self-rated health : support for diathesis–stress model of gene–environment interplay
- 2022
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Ingår i: Biodemography and Social Biology. - : Taylor & Francis. - 1948-5565 .- 1948-5573. ; 67:1, s. 58-70
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Tidskriftsartikel (refereegranskat)abstract
- Data from the Interplay of Genes and Environment across Multiple Studies (IGEMS) consortium were used to examine predictions of different models of gene-by-environment interaction to understand how genetic variance in self-rated health (SRH) varies at different levels of financial strain. A total of 11,359 individuals from 10 twin studies in Australia, Sweden, and the United States contributed relevant data, including 2,074 monozygotic and 2,623 dizygotic twin pairs. Age ranged from 22 to 98 years, with a mean age of 61.05 (SD = 13.24). A factor model was used to create a harmonized measure of financial strain across studies and items. Twin analyses of genetic and environmental variance for SRH incorporating age, age2, sex, and financial strain moderators indicated significant financial strain moderation of genetic influences on self-rated health. Moderation results did not differ across sex or country. Genetic variance for SRH increased as financial strain increased, matching the predictions of the diathesis–stress and social comparison models for components of variance. Under these models, environmental improvements would be expected to reduce genetically based health disparities.
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| 2. |
- Pedersen, Nancy L., et al.
(författare)
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IGEMS : The Consortium on Interplay of Genes and Environment Across Multiple Studies - An Update
- 2019
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Ingår i: Twin Research and Human Genetics. - : Cambridge University Press. - 1832-4274 .- 1839-2628. ; 22:6, s. 809-816
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Tidskriftsartikel (refereegranskat)abstract
- The Interplay of Genes and Environment across Multiple Studies (IGEMS) is a consortium of 18 twin studies from 5 different countries (Sweden, Denmark, Finland, United States, and Australia) established to explore the nature of gene-environment (GE) interplay in functioning across the adult lifespan. Fifteen of the studies are longitudinal, with follow-up as long as 59 years after baseline. The combined data from over 76,000 participants aged 14-103 at intake (including over 10,000 monozygotic and over 17,000 dizygotic twin pairs) support two primary research emphases: (1) investigation of models of GE interplay of early life adversity, and social factors at micro and macro environmental levels and with diverse outcomes, including mortality, physical functioning and psychological functioning; and (2) improved understanding of risk and protective factors for dementia by incorporating unmeasured and measured genetic factors with a wide range of exposures measured in young adulthood, midlife and later life.
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| 3. |
- Abdulbaqi, Dana M., et al.
(författare)
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Enhanced Oil Recovery (EOR) as a Stepping Stone to Carbon Capture and Sequestration (CCS)
- 2018
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Ingår i: Mineral Economics. - : Springer. - 2191-2203 .- 2191-2211. ; 31:1-2, s. 239-251
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Tidskriftsartikel (refereegranskat)abstract
- Environmental concerns about carbon emissions coupled with the oil industry’s need to secure additional CO2 for enhanced oil recovery (CO2-EOR) projects have sparked interest in the potential that CO2-EOR may have in jumpstarting carbon capture and sequestration (CCS). However, existing studies on the viability of coupling CO2-EOR with CCS have generally placed more focus on either the engineering or economic aspects of the problem. Most engineering studies focus on the technical aspects of the CO2-EOR project to produce the maximum amount of oil, while simultaneously storing the most CO2 during the production process with the economics as an afterthought, while most economic studies found have focused on a singular aspect of the issue such as impacts of exogenously varying injection rates. Furthermore, modelling efforts have stopped at the end of the productive life of the field. We build a unique two-stage dynamic optimization model, which simultaneously addresses engineering and economic policy aspects, to study the viability of coupling CO2-EOR transitioning into CCS. Our model includes a carbon tax for emissions, which becomes a subsidy for full scale sequestration after oil production has ceased; this allows us to explore the transition from CO2-EOR, our first stage, to sole CO2 sequestration in our second stage for a single field. We maximize the operator’s profits across both stages, while tracking the responsiveness of oil production and total carbon movements to both price and policy changes. We pair our optimization model with a reservoir simulation model, allowing us to mimic actual field behavior, giving our work a more realistic representation of both production and sequestration profiles. Our results suggest that small increases in the level of carbon tax can have large and discontinuous impacts on net sequestration. This stems from the observed transition from limited natural sources of CO2 to more expensive captured CO2 resulting from the implemented policy. With appropriate taxes, total volumes of captured CO2 sequestered across both stages are equivalent to 30 to 40% of the emissions from the use of the oil produced. With the credits oil producers receive from sequestering CO2, which equate to the tax, relatively high carbon taxes incentivize additional sequestration without significantly impacting the supply of oil. This, alongside maintaining a steady stream of profits, is a win-win situation for energy security and the climate.
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| 4. |
- Akimaya, Muhammad, et al.
(författare)
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Estimating the Cross-Price Elasticity of Regular Gasoline with Respect to the Price of Premium Gasoline
- 2018
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Ingår i: Journal of Transport Economics and Policy. - : University of Bath. - 0022-5258 .- 1754-5951. ; 52:2, s. 157-180
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Tidskriftsartikel (refereegranskat)abstract
- Gasoline demand has been extensively researched, yet there has been no attempt to estimate cross-price elasticities of different grades of gasoline. Such knowledge will allow accurate determination of the impact of a fuel pricing policy that has different rates of tax or subsidy depending on the gasoline grade. Using monthly data on the Mexican gasoline market from 1999 to 2014, regular gasoline demand is estimated with an ARDL model. Endogeneity of the price and structural break are also investigated. The cross-price elasticity between regular and premium gasoline is found to be 0.875, confirming high substitutability among gasoline with different grades.
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| 5. |
- Akimaya, Muhammad, et al.
(författare)
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Political power, economic trade-offs, and game theory in Indonesian gasoline subsidy reform
- 2022
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Ingår i: Energy Research & Social Science. - : Elsevier. - 2214-6296 .- 2214-6326. ; 92
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Tidskriftsartikel (refereegranskat)abstract
- Gasoline subsidies distort the gasoline market resulting in inefficiencies and a costly burden in government budget. In Indonesia, they have taken up to 15Â % of the government expenditures that arguably could be better spent elsewhere. Governments are aware of these costs, yet face difficulties in removing the policy. Governments would like to release the subsidy fund for other programs while still maintaining political power. Simultaneously, a reform will reduce the purchasing of the population and thus, it is commonly met with strong public resistance. The general population can influence the government’s decision to carry out a reform by exerting pressure that may affect the country’s political stability. There is a vast economics literature analysing the economic impact from a subsidy reform. Meanwhile, the government’s hesitancy is analysed in the political science literature. We combined these two fields by developing a quantitative game theory model to show the interaction between the government and the general population. The model is based on Indonesian data but provides a framework that can be applied elsewhere. Different policy removal schemes are simulated including completely or partially phasing-out the subsidy with and without compensation. An important take-away from our analysis is that it provides a framework showing governments what they have to quantify in order to make an informed policy decision. Another important implication is that the success of the policy reform is highly dependent on the selectorates trust to the government. It strongly supports the political science recommendations of building trust through transparency and inclusion.
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| 6. |
- Akimaya, Muhammad, et al.
(författare)
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Simulation of price controls for different grade of gasoline : The case of Indonesia
- 2017
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Ingår i: Energy Economics. - : Elsevier. - 0140-9883 .- 1873-6181. ; 68, s. 373-382
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Tidskriftsartikel (refereegranskat)abstract
- A gasoline subsidy is one of the most prevalent strategies for distributing welfare to the people in oil-producing countries. However well-intentioned, the policy will distort the gasoline market with the resulting inefficiencies. Furthermore, the gasoline subsidy takes a great amount of government's budget. Arguably, these funds could be spent elsewhere with a greater impact on economic growth. These governments are aware of the cost of such a policy, yet face difficulties in removing the policy because of strong resistance from the public. This paper looks at the unique case of Indonesia that only provides a subsidy for regular gasoline and in turn proposes an alternative policy that introduces a subsidy for premium gasoline at a lower rate to reduce the overall gasoline subsidy cost. There has yet to be any research that simulates price controls for gasoline with different grades. The aggregate demand for gasoline in Indonesia is replicated using a translog cost calibration approach. Simulations based on the calibrated demand are then performed and the results confirm the existence of potential savings that are largely determined by the cross-price elasticities between regular and premium gasoline. The benchmark scenario, based on a recent study of substitutability between gasoline by grades, results in an 11.5% reduction in subsidy cost of around 950 million USD with a subsidy rate of Rp 2254/liter. Furthermore, the optimal rate of subsidy for premium gasoline results in a reduction of inefficiency as consumers' welfare increase by 6.8 trillion rupiahs (or 560 million USD).
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| 7. |
- Astuto, Lisa M., et al.
(författare)
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Genetic heterogeneity of Usher syndrome : analysis of 151 families with Usher type 1
- 2000
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 67:6, s. 1569-1574
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Tidskriftsartikel (refereegranskat)abstract
- Usher syndrome type I is an autosomal recessive disorder marked by hearing loss, vestibular areflexia, and retinitis pigmentosa. Six Usher I genetic subtypes at loci USH1A-USH1F have been reported. The MYO7A gene is responsible for USH1B, the most common subtype. In our analysis, 151 families with Usher I were screened by linkage and mutation analysis. MYO7A mutations were identified in 64 families with Usher I. Of the remaining 87 families, who were negative for MYO7A mutations, 54 were informative for linkage analysis and were screened with the remaining USH1 loci markers. Results of linkage and heterogeneity analyses showed no evidence of Usher types Ia or Ie. However, one maximum LOD score was observed lying within the USH1D region. Two lesser peak LOD scores were observed outside and between the putative regions for USH1D and USH1F, on chromosome 10. A HOMOG chi(2)((1)) plot shows evidence of heterogeneity across the USH1D, USH1F, and intervening regions. These results provide conclusive evidence that the second-most-common subtype of Usher I is due to genes on chromosome 10, and they confirm the existence of one Usher I gene in the previously defined USH1D region, as well as providing evidence for a second, and possibly a third, gene in the 10p/q region.
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| 8. |
- Bai, Yang, et al.
(författare)
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Evaluating the Management of U.S. Strategic Petroleum Reserve during Oil disruptions
- 2018
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Ingår i: Energy Policy. - : Elsevier. - 0301-4215 .- 1873-6777. ; 117, s. 25-38
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Tidskriftsartikel (refereegranskat)abstract
- Numerous countries have set up strategic petroleum reserves (SPRs) in response to oil disruptions since 1970. While numerous studies model such programs, we found few that evaluate SPRs' historical performance. Thus, we evaluate the U.S. SPR's performance by comparing actual real costs with estimated real benefits. From 1976 to 2014, the real U.S. SPR cost was about $219 billion real (2014$) dollars, whereas the real benefit was only $122 billion. Sensitivity testing suggests such negative net benefits are qualitatively robust. However, if world oil demand is extremely inelastic to oil price or GDP is elastic enough to oil price shocks, the estimated U.S. SPR net benefit is positive. Sensitivity testing around total real costs and benefits range from $380 billion to $80 billion. Limited testing of IEA coordinated drawdowns suggests that total U.S. benefits jump from $122 billion to more than $400 billion putting the SPR strongly in the black. Limited testing of private sector inventory changes was more disappointing and tentatively suggests private activities may at times have offset some of the government drawdowns. With 20-20 hindsight, initial experimentation found that better management could have significantly enhanced the value of the U.S. SPR, especially for the 1990-91 disruption.
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| 9. |
- Beam, Christopher R., et al.
(författare)
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Estimating Likelihood of Dementia in the Absence of Diagnostic Data : A Latent Dementia Index in 10 Genetically Informed Studies
- 2022
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Ingår i: Journal of Alzheimer's Disease. - : IOS Press. - 1387-2877 .- 1875-8908. ; 90:3, s. 1187-1201
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Epidemiological research on dementia is hampered by differences across studies in how dementia is classified, especially where clinical diagnoses of dementia may not be available. OBJECTIVE: We apply structural equation modeling to estimate dementia likelihood across heterogeneous samples within a multi-study consortium and use the twin design of the sample to validate the results. METHODS: Using 10 twin studies, we implement a latent variable approach that aligns different tests available in each study to assess cognitive, memory, and functional ability. The model separates general cognitive ability from components indicative of dementia. We examine the validity of this continuous latent dementia index (LDI). We then identify cut-off points along the LDI distributions in each study and align them across studies to distinguish individuals with and without probable dementia. Finally, we validate the LDI by determining its heritability and estimating genetic and environmental correlations between the LDI and clinically diagnosed dementia where available. RESULTS: Results indicate that coordinated estimation of LDI across 10 studies has validity against clinically diagnosed dementia. The LDI can be fit to heterogeneous sets of memory, other cognitive, and functional ability variables to extract a score reflective of likelihood of dementia that can be interpreted similarly across studies despite diverse study designs and sampling characteristics. Finally, the same genetic sources of variance strongly contribute to both the LDI and clinical diagnosis. CONCLUSION: This latent dementia indicator approach may serve as a model for other research consortia confronted with similar data integration challenges.
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| 10. |
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| 11. |
- Dahl, Carol, et al.
(författare)
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Introduction
- 2020
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Ingår i: Mineral Economics. - : Springer. - 2191-2203 .- 2191-2211. ; 33:1-2, s. 1-2
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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| 12. |
- Dahl, Carol, et al.
(författare)
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Mineral scarcity on Earth : are Asteroids the answer
- 2020
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Ingår i: Mineral Economics. - : Springer. - 2191-2203 .- 2191-2211. ; 33:1-2, s. 29-41
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Tidskriftsartikel (refereegranskat)abstract
- Depletion of minerals and other non-renewable resources has long been a source of worry to industrial economies. This worry waxes when markets are tight and wanes when they are not. However, evidence has continued to mount that there are staggering amounts of minerals in space that are technically within our grasp. Scientific work has considered mineral availability and technical ability to mine on near earth objects. Within the last decade, a number of space related industries have gained attention. While availability and technical feasibility are both necessary conditions for this industry to develop, they are not sufficient. Rather sufficiency also requires financial feasibility. Although studies have considered the costs of mining asteroids, we are aware of no papers that model the effects on terrestrial mineral market structure with the injection of extra-terrestrial minerals. Our contribution is to consider the current state of mineral markets and provide a model of firm entry to derive implications to the market from space mined minerals entering the market. We provide a numerical simulation to demonstrate what prices asteroidal entrants might face for the injection of a variety of metals and provide an online model for others to change inputs to their asteroid and metals of choice.
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| 13. |
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| 14. |
- Jelenkovic, Aline, et al.
(författare)
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Zygosity Differences in Height and Body Mass Index of Twins From Infancy to Old Age : A Study of the CODATwins Project
- 2015
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Ingår i: Twin Research and Human Genetics. - : Cambridge University Press. - 1832-4274 .- 1839-2628. ; 18:5, s. 557-570
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Tidskriftsartikel (refereegranskat)abstract
- A trend toward greater body size in dizygotic (DZ) than in monozygotic (MZ) twins has been suggested by some but not all studies, and this difference may also vary by age. We analyzed zygosity differences in mean values and variances of height and body mass index (BMI) among male and female twins from infancy to old age. Data were derived from an international database of 54 twin cohorts participating in the COllaborative project of Development of Anthropometrical measures in Twins (CODATwins), and included 842,951 height and BMI measurements from twins aged 1 to 102 years. The results showed that DZ twins were consistently taller than MZ twins, with differences of up to 2.0 cm in childhood and adolescence and up to 0.9 cm in adulthood. Similarly, a greater mean BMI of up to 0.3 kg/m(2) in childhood and adolescence and up to 0.2 kg/m(2) in adulthood was observed in DZ twins, although the pattern was less consistent. DZ twins presented up to 1.7% greater height and 1.9% greater BMI than MZ twins; these percentage differences were largest in middle and late childhood and decreased with age in both sexes. The variance of height was similar in MZ and DZ twins at most ages. In contrast, the variance of BMI was significantly higher in DZ than in MZ twins, particularly in childhood. In conclusion, DZ twins were generally taller and had greater BMI than MZ twins, but the differences decreased with age in both sexes.
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| 15. |
- Matsson, Hans, et al.
(författare)
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Alpha-cardiac actin mutations produce atrial septal defects.
- 2008
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Ingår i: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 17:2, s. 256-65
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Tidskriftsartikel (refereegranskat)abstract
- Atrial septal defect (ASD) is one of the most frequent congenital heart defects (CHDs) with a variable phenotypic effect depending on the size of the septal shunt. We identified two pedigrees comprising 20 members segregating isolated autosomal dominant secundum ASD. By genetic mapping, we identified the gene-encoding alpha-cardiac actin (ACTC1), which is essential for cardiac contraction, as the likely candidate. A mutation screen of the coding regions of ACTC1 revealed a founder mutation predicting an M123V substitution in affected individuals of both pedigrees. Functional analysis of ACTC1 with an M123V substitution shows a reduced affinity for myosin, but with retained actomyosin motor properties. We also screened 408 sporadic patients with CHDs and identified a case with ASD and a 17-bp deletion in ACTC1 predicting a non-functional protein. Morpholino (MO) knockdown of ACTC1 in chick embryos produces delayed looping and reduced atrial septa, supporting a developmental role for this protein. The combined results indicate, for the first time, that ACTC1 mutations or reduced ACTC1 levels may lead to ASD without signs of cardiomyopathy.
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| 16. |
- Nothhaft, Howard, et al.
(författare)
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Editors’ Introduction
- 2018
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Ingår i: International Journal of Strategic Communication. - Heidelberg : International Association for Energy Economics. - 1553-118X. ; 39:1, s. 257-, s. 7-16, s. 1-6
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Tidskriftsartikel (refereegranskat)
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| 17. |
- Pahlen, Shandell, et al.
(författare)
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Age-moderation of genetic and environmental contributions to cognitive functioning in mid- and late-life for specific cognitive abilities
- 2018
-
Ingår i: Intelligence. - : Elsevier. - 0160-2896 .- 1873-7935. ; 68, s. 70-81
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Tidskriftsartikel (refereegranskat)abstract
- Age moderation of genetic and environmental contributions to Digits Forward, Digits Backward, Block Design, Symbol Digit, Vocabulary, and Synonyms was investigated in a sample of 14,534 twins aged 26 to 98 years. The Interplay of Genes and Environment across Multiple Studies (IGEMS) consortium contributed the sample, which represents nine studies from three countries (USA, Denmark, and Sweden). Average test performance was lower in successively older age groups for all tests. Significant age moderation of additive genetic, shared environmental, and non-shared environmental variance components was observed, but the pattern varied by test. The genetic contribution to phenotypic variance across age was smaller for both Digit Span tests, greater for Synonyms, and stable for Block Design and Symbol Digit. The non-shared environmental contribution was greater with age for the Digit Span tests and Block Design, while the shared environmental component was small for all tests, often more so with age. Vocabulary showed similar age-moderation patterns as Synonyms, but these effects were nonsignificant. Findings are discussed in the context of theories of cognitive aging.
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| 18. |
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| 19. |
- Silventoinen, Karri, et al.
(författare)
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Education in twins and their parents across birth cohorts over 100 years : an individual-level pooled analysis of 42 twin cohorts
- 2017
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Ingår i: Twin Research and Human Genetics. - Stockholm : Karolinska Institutet, Dept of Medical Epidemiology and Biostatistics. - 1832-4274 .- 1839-2628.
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Tidskriftsartikel (refereegranskat)abstract
- Whether monozygotic (MZ) and dizygotic (DZ) twins differ from each other in a variety of phenotypes is important for genetic twin modeling and for inferences made from twin studies in general. We analyzed whether there were differences in individual, maternal and paternal education between MZ and DZ twins in a large pooled dataset. Information was gathered on individual education for 218,362 adult twins from 27 twin cohorts (53% females; 39% MZ twins), and on maternal and paternal education for 147,315 and 143,056 twins respectively, from 28 twin cohorts (52% females; 38% MZ twins). Together, we had information on individual or parental education from 42 twin cohorts representing 19 countries. The original education classifications were transformed to education years and analyzed using linear regression models. Overall, MZ males had 0.26 (95% CI [0.21, 0.31]) years and MZ females 0.17 (95% CI [0.12, 0.21]) years longer education than DZ twins. The zygosity difference became smaller in more recent birth cohorts for both males and females. Parental education was somewhat longer for fathers of DZ twins in cohorts born in 1990-1999 (0.16 years, 95% CI [0.08, 0.25]) and 2000 or later (0.11 years, 95% CI [0.00, 0.22]), compared with fathers of MZ twins. The results show that the years of both individual and parental education are largely similar in MZ and DZ twins. We suggest that the socio-economic differences between MZ and DZ twins are so small that inferences based upon genetic modeling of twin data are not affected.
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| 20. |
- Silventoinen, Karri, et al.
(författare)
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Genetic and environmental variation in educational attainment : an individual-based analysis of 28 twin cohorts
- 2020
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Ingår i: Scientific Reports. - : Springer Nature. - 2045-2322. ; 10:1
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Tidskriftsartikel (refereegranskat)abstract
- We investigated the heritability of educational attainment and how it differed between birth cohorts and cultural–geographic regions. A classical twin design was applied to pooled data from 28 cohorts representing 16 countries and including 193,518 twins with information on educational attainment at 25 years of age or older. Genetic factors explained the major part of individual differences in educational attainment (heritability: a2 = 0.43; 0.41–0.44), but also environmental variation shared by co-twins was substantial (c2 = 0.31; 0.30–0.33). The proportions of educational variation explained by genetic and shared environmental factors did not differ between Europe, North America and Australia, and East Asia. When restricted to twins 30 years or older to confirm finalized education, the heritability was higher in the older cohorts born in 1900–1949 (a2 = 0.44; 0.41–0.46) than in the later cohorts born in 1950–1989 (a2 = 0.38; 0.36–0.40), with a corresponding lower influence of common environmental factors (c2 = 0.31; 0.29–0.33 and c2 = 0.34; 0.32–0.36, respectively). In conclusion, both genetic and environmental factors shared by co-twins have an important influence on individual differences in educational attainment. The effect of genetic factors on educational attainment has decreased from the cohorts born before to those born after the 1950s.
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| 21. |
- Silventoinen, Karri, et al.
(författare)
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Smoking remains associated with education after controlling for social background and genetic factors in a study of 18 twin cohorts
- 2022
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Ingår i: Scientific Reports. - : Nature Portfolio. - 2045-2322. ; 12:1
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Tidskriftsartikel (refereegranskat)abstract
- We tested the causality between education and smoking using the natural experiment of discordant twin pairs allowing to optimally control for background genetic and childhood social factors. Data from 18 cohorts including 10,527 monozygotic (MZ) and same-sex dizygotic (DZ) twin pairs discordant for education and smoking were analyzed by linear fixed effects regression models. Within twin pairs, education levels were lower among the currently smoking than among the never smoking co-twins and this education difference was larger within DZ than MZ pairs. Similarly, education levels were higher among former smoking than among currently smoking co-twins, and this difference was larger within DZ pairs. Our results support the hypothesis of a causal effect of education on both current smoking status and smoking cessation. However, the even greater intra-pair differences within DZ pairs, who share only 50% of their segregating genes, provide evidence that shared genetic factors also contribute to these associations.
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| 22. |
- Silventoinen, Karri, et al.
(författare)
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The CODATwins Project : The Cohort Description of Collaborative Project of Development of Anthropometrical Measures in Twins to Study Macro-Environmental Variation in Genetic and Environmental Effects on Anthropometric Traits
- 2015
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Ingår i: Twin Research and Human Genetics. - : Cambridge University Press. - 1832-4274 .- 1839-2628. ; 18:4
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Tidskriftsartikel (refereegranskat)abstract
- For over 100 years, the genetics of human anthropometric traits has attracted scientific interest. In particular, height and body mass index (BMI, calculated as kg/m2) have been under intensive genetic research. However, it is still largely unknown whether and how heritability estimates vary between human populations. Opportunities to address this question have increased recently because of the establishment of many new twin cohorts and the increasing accumulation of data in established twin cohorts. We started a new research project to analyze systematically (1) the variation of heritability estimates of height, BMI and their trajectories over the life course between birth cohorts, ethnicities and countries, and (2) to study the effects of birth-related factors, education and smoking on these anthropometric traits and whether these effects vary between twin cohorts. We identified 67 twin projects, including both monozygotic (MZ) and dizygotic (DZ) twins, using various sources. We asked for individual level data on height and weight including repeated measurements, birth related traits, background variables, education and smoking. By the end of 2014, 48 projects participated. Together, we have 893,458 height and weight measures (52% females) from 434,723 twin individuals, including 201,192 complete twin pairs (40% monozygotic, 40% same-sex dizygotic and 20% opposite-sex dizygotic) representing 22 countries. This project demonstrates that large-scale international twin studies are feasible and can promote the use of existing data for novel research purposes.
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| 23. |
- Wang, Sheng, et al.
(författare)
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De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis
- 2018
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Ingår i: Cell Reports. - : CELL PRESS. - 2211-1247. ; 24:13, s. 3441-
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Tidskriftsartikel (refereegranskat)abstract
- We previously established the contribution of de novo damaging sequence variants to Tourette disorder (TD) through whole-exome sequencing of 511 trios. Here, we sequence an additional 291 TD trios and analyze the combined set of 802 trios. We observe an overrepresentation of de novo damaging variants in simplex, but not multiplex, families; we identify a high-confidence TD risk gene, CELSR3 (cadherin EGF LAG seven-pass G-type receptor 3); we find that the genes mutated in TD patients are enriched for those related to cell polarity, suggesting a common pathway underlying pathobiology; and we confirm a statistically significant excess of de novo copy number variants in TD. Finally, we identify significant overlap of de novo sequence variants between TD and obsessive-compulsive disorder and de novo copy number variants between TD and autism spectrum disorder, consistent with shared genetic risk.
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| 24. |
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| 25. |
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