| 1. |
- Bussu, Giorgia, et al.
(författare)
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The latent structure of emerging cognitive abilities : An infant twin study
- 2023
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Ingår i: Intelligence. - : Elsevier. - 0160-2896 .- 1873-7935. ; 99, s. 101771-101771
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Tidskriftsartikel (refereegranskat)abstract
- It is well known that genetic factors account for up to 70% of variability in cognition from childhood to adulthood. However, less is known about the first year of life. This study investigated the etiological factors influencing individual variability in different domains of emerging cognitive and motor abilities in early infancy, and to what extent genetic and environmental influences are unique or shared across different domains. We compared multivariate twin models built on scores from the five scales of the Mullen Scales of Early Learning (MSEL) in a community sample of monozygotic and dizygotic twins at 5 months of age (n=567). The results indicated a hierarchical etiological structure whereby a general genetic latent factor accounted for 54% of variance underlying the different domains of emerging cognitive and motor abilities (A=0.54, confidence interval CI=[0; 0.82]). We also found additional genetic influences that were specific to early motor and language development. Unlike previous findings on older children, we did not find significant influences of shared environment on the shared factor (C=0, CI=[0, 0.57]), or any specific scale. Furthermore, influences of unique environment, which include measurement error, were moderate and statistically significant (E=0.46, CI=0.18; 0.81]). This study provides strong evidence for a unitary hierarchical structure across different domains of emerging cognition. Evidence that a single common etiological factor, which we term infant g, contributes to a range of different abilities supports the view that in young infants, intrinsic and general neurodevelopmental processes are key drivers of observable behavioural differences in specific domains.
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| 2. |
- Källbom, Susanna, et al.
(författare)
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Effects of water soaking-drying cycles on thermally modified spruce wood-plastic composites
- 2020
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Ingår i: Wood and Fiber Science. - : SOC WOOD SCI TECHNOL. - 0735-6161. ; 52:1, s. 2-12
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Tidskriftsartikel (refereegranskat)abstract
- The overall aim of this work was to gain more insight on the potential of modified wood (TMW) components for use in wood-thermoplastic composites (WPCs). Laboratory-scale TMWPCs were produced, and the effects of severe water soaking-drying cycles on the samples were studied. Water sorption behavior and resulting dimensional and micromorphological changes were also studied, and the results were compared with those of unmodified wood-plastic composites (UWPCs) used as control. The TMW was prepared by cutting a spruce board into half and subjecting one-half to an atmosphere of superheated steam at atmospheric pressure with a peak temperature of 210 degrees C, with the other unmodified wood (UW) half as a control. The TMW and UW components were then prepared by a Wiley mill and thereafter sifted into smaller (mesh 0.20-0.40 mm) and larger (mesh 0.40-0.63 mm) size fractions. A portion of the wood components were also subjected to hydrothermal extraction (HE). Composite samples with these different wood components, polypropylene (PP) matrix, and maleated PP (MAPP) as coupling agent (50/48/2 wood/PP/MAPP ratio by weight) were then prepared by using a Brabender mixer followed by hot pressing. The matching micromorphology of the composites before and after the soaking-drying cycles was analyzed using a surface preparation technique based on ultraviolet-laser ablation combined with scanning electron microscopy. The results of the water absorption tests showed, as hypothesized, a significantly reduced water absorption and resulting thickness swelling at the end of a soaking cycle for the TMWPCs compared with the controls (UWPCs). The water absorption was reduced with about 50-70% for TMWPC and 60-75% for HE-TMWPC. The thickness swelling for TMWPCs was reduced with about 40-70% compared with the controls. Similarly, the WPCs with HE-UW components absorbed about 20-45% less moisture and showed a reduced thickness swelling of about 25-40% compared with the controls. These observations also were in agreement with the micromorphology analysis of the composites before and after the moisture cycling which showed a more pronounced wood-plastic interfacial cracking (de-bonding) as well as other microstructure changes in the controls compared with those prepared with TMW and HE-UW components. Based on these observations, it is suggested that these potential bio-based building materials show increased potential durability for applications in harsh outdoor environments, in particular TMWPCs with a well-defined and comparably small size fractions of TMW components.
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| 3. |
- Portugal, Ana Maria, et al.
(författare)
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Infants' looking preferences for social versus non-social objects reflect genetic variation
- 2024
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Ingår i: Nature Human Behaviour. - : Springer Nature. - 2397-3374. ; 8:1, s. 115-124
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Tidskriftsartikel (refereegranskat)abstract
- To what extent do individual differences in infants’ early preference for faces versus non-facial objects reflect genetic and environmental factors? Here in a sample of 536 5-month-old same-sex twins, we assessed attention to faces using eye tracking in two ways: initial orienting to faces at the start of the trial (thought to reflect subcortical processing) and sustained face preference throughout the trial (thought to reflect emerging attention control). Twin model fitting suggested an influence of genetic and unique environmental effects, but there was no evidence for an effect of shared environment. The heritability of face orienting and preference were 0.19 (95% confidence interval (CI) 0.04 to 0.33) and 0.46 (95% CI 0.33 to 0.57), respectively. Face preference was associated positively with later parent-reported verbal competence (β = 0.14, 95% CI 0.03 to 0.25, P = 0.014, R2 = 0.018, N = 420). This study suggests that individual differences in young infants’ selection of perceptual input—social versus non-social—are heritable, providing a developmental perspective on gene–environment interplay occurring at the level of eye movements.
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| 4. |
- Portugal, Ana Maria, et al.
(författare)
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Pupil size and pupillary light reflex in early infancy : heritability and link to genetic liability to schizophrenia
- 2022
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Ingår i: Journal of Child Psychology and Psychiatry. - : John Wiley & Sons. - 0021-9630 .- 1469-7610. ; 63:9, s. 1068-1077
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Tidskriftsartikel (refereegranskat)abstract
- Background Measures based on pupillometry, such as the pupillary light reflex (PLR) and baseline pupil size, reflect physiological responses linked to specific neural circuits that have been implicated as atypical in some psychiatric and neurodevelopmental conditions.MethodsWe investigated the contribution of genetic and environmental factors to the baseline pupil size and the PLR in 510 infant twins assessed at 5?months of age (281 monozygotic and 229 dizygotic pairs), and its associations with common genetic variants associated with neurodevelopmental (autism spectrum disorder and attention deficit hyperactivity disorder) and mental health (bipolar disorder, major depressive disorder and schizophrenia) conditions using genome-wide polygenic scores (GPSs).ResultsUnivariate twin modelling showed high heritability at 5?months for both pupil size (h2?=?.64) and constriction in response to light (h2?=?.62), and bivariate twin modeling indicated substantial independence between the genetic factors influencing each (rG?=?.38). A statistically significant positive association between infant tonic pupil size and the GPS for schizophrenia was found (??=?.15, p?=?.024), while there was no significant association with the GPS for autism or any other GPSs.ConclusionsThis study shows that some pupil measures are highly heritable in early infancy, although substantially independent in their genetic etiologies, and associated with common genetic variants linked to schizophrenia. It illustrates how genetically informed studies of infants may help us understand early physiological responses associated with psychiatric disorders which emerge much later in life.
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| 5. |
- Reed, Mark, et al.
(författare)
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Policy and Governance Options for Peatlands Conservation, Restoration and Sustainable Management
- 2022
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Ingår i: Global Peatlands Assessment. - : United Nations Environment Programme. - 9789280739916 ; , s. 252-271
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Bokkapitel (refereegranskat)abstract
- In an era of high uncertainty, rapid environmental change, and increased recognition of the coupling of social and ecological systems, it is clear that there are limitations to current peatland policy and governance. As policy goals, and biophysical, social and political conditions differ between locations, the governance of peatlands needs to be tailored to each national, regional, and local context. This governance must also be adjusted for the needs and interests of the human populations and other species that depend upon these habitats. The adoption of gender-responsive approaches that take into account the needs of both women and men especially those from lower socioeconomic status, are thus crucial if we are to make progress towards environmental sustainability.This chapter reviews a range of policy and governance instruments that can halt further degradation and destruction of peatlands and facilitate their conservation, restoration and sustainable management.
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| 6. |
- Viktorsson, Charlotte, et al.
(författare)
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Preferential looking to eyes versus mouth in early infancy : heritability and link to concurrent and later development
- 2023
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Ingår i: Journal of Child Psychology and Psychiatry. - : John Wiley & Sons. - 0021-9630 .- 1469-7610. ; 64:2, s. 311-319
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundFrom birth, infants orient preferentially to faces, and when looking at the face, they attend primarily to eyes and mouth. These areas convey different types of information, and earlier research suggests that genetic factors influence the preference for one or the other in young children. MethodsIn a sample of 535 5-month-old infant twins, we assessed eye (relative to mouth) preference in early infancy, i.e., before neural systems for social communication and language are fully developed. We investigated the contribution of genetic and environmental factors to the preference for looking at eyes, and the association with concurrent traits and follow-up measures. ResultsEye preference was independent from all other concurrent traits measured, and had a moderate-to-high contribution from genetic influences (A = 0.57; 95% CI: 0.45, 0.66). Preference for eyes at 5 months was associated with higher parent ratings of receptive vocabulary at 14 months. No statistically significant association with later autistic traits was found. Preference for eyes was strikingly stable across different stimulus types (e.g., dynamic vs. still), suggesting that infants' preference at this age does not reflect sensitivity to low-level visual cues. ConclusionsThese results suggest that individual differences in infants' preferential looking to eyes versus mouth to a substantial degree reflect genetic variation. The findings provide new leads on both the perceptual basis and the developmental consequences of these attentional biases.
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| 7. |
- Yang, Xin, et al.
(författare)
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Cancer risks associated with germline PALB2 pathogenic variants : An international study of 524 families
- 2020
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Ingår i: Journal of Clinical Oncology. - 0732-183X. ; 38:7, s. 674-685
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE To estimate age-specific relative and absolute cancer risks of breast cancer and to estimate risks of ovarian, pancreatic, male breast, prostate, and colorectal cancers associated with germline PALB2 pathogenic variants (PVs) because these risks have not been extensively characterized. METHODS We analyzed data from 524 families with PALB2 PVs from 21 countries. Complex segregation analysis was used to estimate relative risks (RRs; relative to country-specific population incidences) and absolute risks of cancers. The models allowed for residual familial aggregation of breast and ovarian cancer and were adjusted for the family-specific ascertainment schemes. RESULTS We found associations between PALB2 PVs and risk of female breast cancer (RR, 7.18; 95% CI, 5.82 to 8.85; P = 6.5 × 10-76), ovarian cancer (RR, 2.91; 95% CI, 1.40 to 6.04; P = 4.1 × 10-3), pancreatic cancer (RR, 2.37; 95% CI, 1.24 to 4.50; P = 8.7 × 10-3), and male breast cancer (RR, 7.34; 95% CI, 1.28 to 42.18; P = 2.6 3 1022). There was no evidence for increased risks of prostate or colorectal cancer. The breast cancer RRs declined with age (P for trend = 2.0 × 10-3). After adjusting for family ascertainment, breast cancer risk estimates on the basis of multiple case families were similar to the estimates from families ascertained through population-based studies (P for difference = .41). On the basis of the combined data, the estimated risks to age 80 years were 53% (95% CI, 44% to 63%) for female breast cancer, 5% (95% CI, 2% to 10%) for ovarian cancer, 2%-3% (95% CI females, 1% to 4%; 95% CI males, 2% to 5%) for pancreatic cancer, and 1% (95% CI, 0.2% to 5%) for male breast cancer. CONCLUSION These results confirm PALB2 as a major breast cancer susceptibility gene and establish substantial associations between germline PALB2 PVs and ovarian, pancreatic, and male breast cancers. These findings will facilitate incorporation of PALB2 into risk prediction models and optimize the clinical cancer risk management of PALB2 PV carriers.
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| 8. |
- Zanti, Maria, et al.
(författare)
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A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants : Application to BRCA1 and BRCA2
- 2023
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Ingår i: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 2023
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Tidskriftsartikel (refereegranskat)abstract
- A large number of variants identified through clinical genetic testing in disease susceptibility genes are of uncertain significance (VUS). Following the recommendations of the American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP), the frequency in case-control datasets (PS4 criterion) can inform their interpretation. We present a novel case-control likelihood ratio-based method that incorporates gene-specific age-related penetrance. We demonstrate the utility of this method in the analysis of simulated and real datasets. In the analysis of simulated data, the likelihood ratio method was more powerful compared to other methods. Likelihood ratios were calculated for a case-control dataset of BRCA1 and BRCA2 variants from the Breast Cancer Association Consortium (BCAC) and compared with logistic regression results. A larger number of variants reached evidence in favor of pathogenicity, and a substantial number of variants had evidence against pathogenicity-findings that would not have been reached using other case-control analysis methods. Our novel method provides greater power to classify rare variants compared with classical case-control methods. As an initiative from the ENIGMA Analytical Working Group, we provide user-friendly scripts and preformatted Excel calculators for implementation of the method for rare variants in BRCA1, BRCA2, and other high-risk genes with known penetrance.
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