18 research outputs found
The role of school connectedness and friend contact in adolescent loneliness, and implications for physical health
JI was supported by the Medical Research Council (MC_UU_00022/1) and the Scottish Government Chief Scientist Office (SPHSU16). The HBSC 2013/14 study in Scotland was funded by NHS Health Scotland (now Public Health Scotland).The current study investigated how adolescents' loneliness relates to school connectedness, classmate support, teacher support, and offline and online communication with friends. We also examined the association between loneliness, physical health, and sleep. Data came from the Scottish Health Behavior in School-aged Children (HBSC). The total sample was 2983 adolescents (F = 1479 [49.6%]) aged 14-17 years (M = 15.66, SD = 0.39) from 117 secondary schools in Scotland. Results showed that (1) higher teacher support, classmate support, and offline contact with friends predicted lower levels of loneliness, (2) online friendship engagement predicted higher levels of loneliness, and (3) poor health and sleep were positively associated with loneliness. The study offers new findings, highlighting the role played by classmates/peers and teachers in reducing loneliness. Supporting previous research, we also found associations between loneliness, poor sleep, and worse physical health.Publisher PDFPeer reviewe
Evidence of Early-Stage Selection on EPAS1 and GPR126 Genes in Andean High Altitude Populations.
The aim of this study is to identify genetic variants that harbour signatures of recent positive selection and may facilitate physiological adaptations to hypobaric hypoxia. To achieve this, we conducted whole genome sequencing and lung function tests in 19 Argentinean highlanders (>3500 m) comparing them to 16 Native American lowlanders. We developed a new statistical procedure using a combination of population branch statistics (PBS) and number of segregating sites by length (nSL) to detect beneficial alleles that arose since the settlement of the Andes and are currently present in 15-50% of the population. We identified two missense variants as significant targets of selection. One of these variants, located within the GPR126 gene, has been previously associated with the forced expiratory volume/forced vital capacity ratio. The other novel missense variant mapped to the EPAS1 gene encoding the hypoxia inducible factor 2α. EPAS1 is known to be the major selection candidate gene in Tibetans. The derived allele of GPR126 is associated with lung function in our sample of highlanders (p < 0.05). These variants may contribute to the physiological adaptations to hypobaric hypoxia, possibly by altering lung function. The new statistical approach might be a useful tool to detect selected variants in population studies
A Selective Sweep on a Deleterious Mutation in CPT1A in Arctic Populations.
Arctic populations live in an environment characterized by extreme cold and the absence of plant foods for much of the year and are likely to have undergone genetic adaptations to these environmental conditions in the time they have been living there. Genome-wide selection scans based on genotype data from native Siberians have previously highlighted a 3 Mb chromosome 11 region containing 79 protein-coding genes as the strongest candidates for positive selection in Northeast Siberians. However, it was not possible to determine which of the genes might be driving the selection signal. Here, using whole-genome high-coverage sequence data, we identified the most likely causative variant as a nonsynonymous G>A transition (rs80356779; c.1436C>T [p.Pro479Leu] on the reverse strand) in CPT1A, a key regulator of mitochondrial long-chain fatty-acid oxidation. Remarkably, the derived allele is associated with hypoketotic hypoglycemia and high infant mortality yet occurs at high frequency in Canadian and Greenland Inuits and was also found at 68% frequency in our Northeast Siberian sample. We provide evidence of one of the strongest selective sweeps reported in humans; this sweep has driven this variant to high frequency in circum-Arctic populations within the last 6-23 ka despite associated deleterious consequences, possibly as a result of the selective advantage it originally provided to either a high-fat diet or a cold environment.This research was supported by ERC Starting Investigator grant (FP7 - 261213) to
T.K. http://erc.europa.eu/. CTS, YX, QA and MS were supported by the Wellcome Trust
(098051). TA was supported by The Wellcome Trust (WT100066MA). M.M and R.V. were
supported by EU ERDF Centre of Excellence in Genomics to EBC; T.K, M.M and R.V. by
Estonian Institutional Research grant (IUT24-1), and M.M by Estonian Science Foundation
(grant 8973).This is the accepted manuscript. The final version is available from Cell/Elsevier at http://www.cell.com/ajhg/abstract/S0002-9297%2814%2900422-4
Selective sweep on human amylase genes postdates the split with Neanderthals
Humans have more copies of amylase genes than other primates. It is still poorly understood, however, when the copy number expansion occurred and whether its spread was enhanced by selection. Here we assess amylase copy numbers in a global sample of 480 high coverage genomes and find that regions flanking the amylase locus show notable depression of genetic diversity both in African and non-African populations. Analysis of genetic variation in these regions supports the model of an early selective sweep in the human lineage after the split of humans from Neanderthals which led to the fixation of multiple copies of AMY1 in place of a single copy. We find evidence of multiple secondary losses of copy number with the highest frequency (52%) of a deletion of AMY2A and associated low copy number of AMY1 in Northeast Siberian populations whose diet has been low in starch content
TeenCovidLife: a resource to understand the impact of the COVID-19 pandemic on adolescents in Scotland
TeenCovidLife is part of Generation Scotland’s CovidLife projects, a set of longitudinal observational studies designed to assess the psychosocial and health impacts of the COVID-19 pandemic. TeenCovidLife focused on how adolescents in Scotland were coping during the pandemic. As of September 2021, Generation Scotland had conducted three TeenCovidLife surveys. Participants from previous surveys were invited to participate in the next, meaning the age ranges shifted over time.
TeenCovidLife Survey 1 consists of data from 5,543 young people age 12 to 17, collected from 22 May to 5 July 2020, during the first school closures period in Scotland. TeenCovidLife Survey 2 consists of data from 2,245 young people aged 12 to 18, collected from 18 August to 14 October 2020, when the initial lockdown measures were beginning to ease, and schools reopened in Scotland. TeenCovidLife Survey 3 consists of data from 597 young people age 12 to 19, collected from 12 May to 27 June 2021, a year after the first survey, after the schools returned following the second lockdown in 2021. A total of 316 participants took part in all three surveys.
TeenCovidLife collected data on general health and well-being, as well as topics specific to COVID-19, such as adherence to COVID-19 health guidance, feelings about school closures, and the impact of exam cancellations.
Limited work has examined the impact of the COVID-19 pandemic on young people. TeenCovidLife provides relevant and timely data to assess the impact of the pandemic on young people in Scotland. The dataset is available under authorised access from Generation Scotland; see the Generation Scotland website for more information
Genomic analyses inform on migration events during the peopling of Eurasia
High-coverage whole-genome sequence studies have so far focused\ud
on a limited number1 of geographically restricted populations2–5,\ud
or been targeted at specific diseases, such as cancer6. Nevertheless,\ud
the availability of high-resolution genomic data has led to the\ud
development of new methodologies for inferring population\ud
history7–9 and refuelled the debate on the mutation rate in humans10.\ud
Here we present the Estonian Biocentre Human Genome Diversity\ud
Panel (EGDP), a dataset of 483 high-coverage human genomes\ud
from 148 populations worldwide, including 379 new genomes from\ud
125 populations, which we group into diversity and selection\ud
sets. We analyse this dataset to refine estimates of continent-wide\ud
patterns of heterozygosity, long- and short-distance gene flow, archaic\ud
admixture, and changes in effective population size through time as\ud
well as for signals of positive or balancing selection. We find a genetic\ud
signature in present-day Papuans that suggests that at least 2% of\ud
their genome originates from an early and largely extinct expansion\ud
of anatomically modern humans (AMHs) out of Africa. Together\ud
with evidence from the western Asian fossil record11, and admixture\ud
between AMHs and Neanderthals predating the main Eurasian\ud
expansion12, our results contribute to the mounting evidence for\ud
the presence of AMHs out of Africa earlier than 75,000 years ago
Genomic analyses inform on migration events during the peopling of Eurasia.
High-coverage whole-genome sequence studies have so far focused on a limited number of geographically restricted populations, or been targeted at specific diseases, such as cancer. Nevertheless, the availability of high-resolution genomic data has led to the development of new methodologies for inferring population history and refuelled the debate on the mutation rate in humans. Here we present the Estonian Biocentre Human Genome Diversity Panel (EGDP), a dataset of 483 high-coverage human genomes from 148 populations worldwide, including 379 new genomes from 125 populations, which we group into diversity and selection sets. We analyse this dataset to refine estimates of continent-wide patterns of heterozygosity, long- and short-distance gene flow, archaic admixture, and changes in effective population size through time as well as for signals of positive or balancing selection. We find a genetic signature in present-day Papuans that suggests that at least 2% of their genome originates from an early and largely extinct expansion of anatomically modern humans (AMHs) out of Africa. Together with evidence from the western Asian fossil record, and admixture between AMHs and Neanderthals predating the main Eurasian expansion, our results contribute to the mounting evidence for the presence of AMHs out of Africa earlier than 75,000 years ago.Support was provided by: Estonian Research Infrastructure Roadmap grant no 3.2.0304.11-0312; Australian Research Council Discovery grants (DP110102635 and DP140101405) (D.M.L., M.W. and E.W.); Danish National Research Foundation; the Lundbeck Foundation and KU2016 (E.W.); ERC Starting Investigator grant (FP7 - 261213) (T.K.); Estonian Research Council grant PUT766 (G.C. and M.K.); EU European Regional Development Fund through the Centre of Excellence in Genomics to Estonian Biocentre (R.V.; M.Me. and A.Me.), and Centre of Excellence for Genomics and Translational Medicine Project No. 2014-2020.4.01.15-0012 to EGC of UT (A.Me.) and EBC (M.Me.); Estonian Institutional Research grant IUT24-1 (L.S., M.J., A.K., B.Y., K.T., C.B.M., Le.S., H.Sa., S.L., D.M.B., E.M., R.V., G.H., M.K., G.C., T.K. and M.Me.) and IUT20-60 (A.Me.); French Ministry of Foreign and European Affairs and French ANR grant number ANR-14-CE31-0013-01 (F.-X.R.); Gates Cambridge Trust Funding (E.J.); ICG SB RAS (No. VI.58.1.1) (D.V.L.); Leverhulme Programme grant no. RP2011-R-045 (A.B.M., P.G. and M.G.T.); Ministry of Education and Science of Russia; Project 6.656.2014/K (S.A.F.); NEFREX grant funded by the European Union (People Marie Curie Actions; International Research Staff Exchange Scheme; call FP7-PEOPLE-2012-IRSES-number 318979) (M.Me., G.H. and M.K.); NIH grants 5DP1ES022577 05, 1R01DK104339-01, and 1R01GM113657-01 (S.Tis.); Russian Foundation for Basic Research (grant N 14-06-00180a) (M.G.); Russian Foundation for Basic Research; grant 16-04-00890 (O.B. and E.B); Russian Science Foundation grant 14-14-00827 (O.B.); The Russian Foundation for Basic Research (14-04-00725-a), The Russian Humanitarian Scientific Foundation (13-11-02014) and the Program of the Basic Research of the RAS Presidium “Biological diversity” (E.K.K.); Wellcome Trust and Royal Society grant WT104125AIA & the Bristol Advanced Computing Research Centre (http://www.bris.ac.uk/acrc/) (D.J.L.); Wellcome Trust grant 098051 (Q.A.; C.T.-S. and Y.X.); Wellcome Trust Senior Research Fellowship grant 100719/Z/12/Z (M.G.T.); Young Explorers Grant from the National Geographic Society (8900-11) (C.A.E.); ERC Consolidator Grant 647787 ‘LocalAdaptatio’ (A.Ma.); Program of the RAS Presidium “Basic research for the development of the Russian Arctic” (B.M.); Russian Foundation for Basic Research grant 16-06-00303 (E.B.); a Rutherford Fellowship (RDF-10-MAU-001) from the Royal Society of New Zealand (M.P.C.)
Data from: Choosy males could help explaining androdioecy in a selfing fish
Androdioecy (the coexistence of males and hermaphrodites) is considered a transitional state derived from pure hermaphroditism or dioecy, but the processes selecting for this rare breeding system are unclear, particularly in animals. In androdioecious species, the proportion of males in relation to hermaphrodites is usually so reduced that it is not known whether there is scope for mate choice, particularly when simultaneous hermaphrodites can self-fertilize. We investigated the potential role of male mate choice in the persistence of androdioecy in animals using a self-fertilizing androdioecious fish (Kryptolebias marmoratus) as a model. Hermaphrodites preferred to associate with males but showed no preference based on genetic similarity. In contrast, males displayed a strong preference for genetically dissimilar hermaphrodites, based, apparently, on olfactory cues. We suggest that disassortative male mate choice could be a critical factor in stabilizing androdioecy in cases where high selfing rates are associated with inbreeding depression
Choosy males could help explain androdioecy in a selfing fish
Androdioecy (the coexistence of males and hermaphrodites) is considered a transitional state derived from pure hermaphroditism or dioecy, but the processes selecting for this rare breeding system are unclear, particularly in animals. In androdioecious species, the proportion of males in relation to hermaphrodites is usually so reduced that it is not known whether there is scope for mate choice, particularly when simultaneous hermaphrodites can self-fertilize. We investigated the potential role of male mate choice in the persistence of androdioecy in animals using a self-fertilizing androdioecious fish (Kryptolebias marmoratus) as a model. Hermaphrodites preferred to associate with males but showed no preference based on genetic similarity. In contrast, males displayed a strong preference for genetically dissimilar hermaphrodites, based, apparently, on olfactory cues. We suggest that disassortative male mate choice could be a critical factor in stabilizing androdioecy in cases where high selfing rates are associated with inbreeding depression