Hundreds of variants clustered in genomic loci and biological pathways affect human height

Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P < 0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.

Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.

OBJECTIVE: Proinsulin is a precursor of mature insulin and C-peptide. Higher circulating proinsulin levels are associated with impaired β-cell function, raised glucose levels, insulin resistance, and type 2 diabetes (T2D). Studies of the insulin processing pathway could provide new insights about T2D pathophysiology. RESEARCH DESIGN AND METHODS: We have conducted a meta-analysis of genome-wide association tests of ∼2.5 million genotyped or imputed single nucleotide polymorphisms (SNPs) and fasting proinsulin levels in 10,701 nondiabetic adults of European ancestry, with follow-up of 23 loci in up to 16,378 individuals, using additive genetic models adjusted for age, sex, fasting insulin, and study-specific covariates. RESULTS: Nine SNPs at eight loci were associated with proinsulin levels (P < 5 × 10(-8)). Two loci (LARP6 and SGSM2) have not been previously related to metabolic traits, one (MADD) has been associated with fasting glucose, one (PCSK1) has been implicated in obesity, and four (TCF7L2, SLC30A8, VPS13C/C2CD4A/B, and ARAP1, formerly CENTD2) increase T2D risk. The proinsulin-raising allele of ARAP1 was associated with a lower fasting glucose (P = 1.7 × 10(-4)), improved β-cell function (P = 1.1 × 10(-5)), and lower risk of T2D (odds ratio 0.88; P = 7.8 × 10(-6)). Notably, PCSK1 encodes the protein prohormone convertase 1/3, the first enzyme in the insulin processing pathway. A genotype score composed of the nine proinsulin-raising alleles was not associated with coronary disease in two large case-control datasets. CONCLUSIONS: We have identified nine genetic variants associated with fasting proinsulin. Our findings illuminate the biology underlying glucose homeostasis and T2D development in humans and argue against a direct role of proinsulin in coronary artery disease pathogenesis

New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk

To increase our understanding of the genetic basis of adiposity and its links to cardiometabolic disease risk, we conducted a genome-wide association meta-analysis of body fat percentage (BF%) in up to 100,716 individuals. Twelve loci reached genome-wide significance (P <5 x 10(-8)), of which eight were previously associated with increased overall adiposity (BMI, BF%) and four (in or near COBLL1/GRB14, IGF2BP1, PLA2G6, CRTC1) were novel associations with BF%. Seven loci showed a larger effect on BF% than on BMI, suggestive of a primary association with adiposity, while five loci showed larger effects on BMI than on BF%, suggesting association with both fat and lean mass. In particular, the loci more strongly associated with BF% showed distinct cross-phenotype association signatures with a range of cardiometabolic traits revealing new insights in the link between adiposity and disease risk.Peer reviewe

Pre-service primary school teachers’ teacher identity development in the context of science education

Abstract To explore the teacher identity development of pre-service primary school teachers (PSTs) in the context of science teaching, a holistic, narrative approach is needed. Thus, for this study, a narrative framework was applied both theoretically and methodologically. Additionally, the current debate concerning teacher identity development in the science teaching context lacks a holistic perspective, where the memories, possible selves, and beliefs of science teaching are considered continuums. Therefore, this study investigated what kind of PSTs’ teacher identity development can be identified in the context of science teaching. To bridge this gap in existing research, a three-phase data collection procedure was applied with 41 PSTs. Subsequently, categorical and holistic narrative analyses were implemented, and finally, the emplotted narratives were composed. The findings indicate that the PSTs’ positive memories of science teaching from school time significantly reflect their teacher identity development. The findings also show how possible selves as well as the changes in the cognitive and affective dimensions of possible selves shape the PSTs’ teacher identity development. Lastly, the inconsistent relationships between PSTs’ inquiry-based teaching (IBT) beliefs, understandings and planning, and their differing effects on teacher identity development, were revealed. These findings allow the pathways of teacher identity development, including those that are static, progressive, and transcending, to be depicted. On the static teacher identity pathway, even one single memory can preponderate the teacher identity development. The progressive pathway involves especially understanding the dimensions of subject content knowledge, and the transcending pathway depicts intrapersonal goal-orientedness where the need for personal change is elucidated. Thus, the identification of the PSTs’ teacher identity development pathways should be paramount in teacher education as it is essential to consider the pathways’ potential impact on their future teacher identity development in the context of science teaching.Tiivistelmä Tutkittaessa luokanopettajaopiskelijoiden opettajaidentiteetin kehittymistä luonnontieteen opetuksen kontekstissa, tarvitaan holistista, narratiivista lähestymistapaa. Tämän vuoksi narratiivista viitekehystä sovellettiin sekä teoreettisesti että menetelmällisesti. Lisäksi opettajaidentiteetin kehitykseen liittyvästä keskustelusta puuttuu kokonaisvaltainen näkökulma opettajaidentiteetistä siten, että muistoja, tulevaisuuden opettajaminää ja uskomuksia tarkastellaan jatkumona. Tässä tutkimuksessa kysytäänkin millä eri tavoilla opettajaidentiteetti kehittyy luonnontieteen opetuksen kontekstissa. Aineistonkeruuprosessi oli kolmivaiheinen, ja siihen osallistui 41 luokanopettajaopiskelijaa. Kerättyyn aineistoon sovellettiin kategorista ja holistista narratiivista analyysia, joiden perusteella luotiin juonennetut narratiivit. Tulokset osoittavat, että positiiviset kouluaikaiset muistot heijastuvat merkittävästi opettajaidentiteettiin. Myös tulevaisuuden opettajaminät sekä muutokset niissä muovaavat opettajaidentiteetin kehittymistä. Tulosten mukaan myös luokanopettajaopiskelijoiden tutkivaan oppimiseen liittämien uskomusten, ymmärtämisen ja oppitunnin suunnittelun väliset suhteet voivat olla epäjohdonmukaisia, ja näiden suhteiden merkitys opettajaidentiteettiin vaihtelee. Tulosten perusteella tunnistettiin pysyvä, etenevä sekä muutosmyönteinen opettajaidentiteettipolku. Pysyvällä opettajaidentiteettipolulla jopa yksittäinen muisto voi hallita opettajaidentiteetin kehittymistä. Etenevään opettajaidentiteettipolkuun voi puolestaan liittyä erityisesti oppiaineen sisältötietoon liittyvien ulottuvuuksia ymmärtäminen. Muutosmyönteinen opettajaidentiteettipolku liittyy tavoitteellisuuteen, joka kohdistuu itse koettuun muutostarpeeseen. Opettajaidentiteettipolkujen tunnistaminen opettajankoulutuksen alussa on ensiarvoisen tärkeää, jotta voidaan ottaa huomioon niiden merkitys opettajaidentiteetin kehittymiselle luonnontieteiden opetuksen kontekstissa

Nuorten opettajien kertomuksia yhteisopettajuudesta työn tukena ja haastajana:näkökulmia yhteisopettajuuden ja mentoroinnin yhtymäkohtiin

Nuori opettaja saa heti työelämään siirtyessään täyden vastuun oppilaista ja opetuksesta, jolloin kuilu opettajankoulutuksen ja työelämän välillä voi tuntua suurelta. Uran alkuvaiheessa tarjottavan tuen on todettu keventävän nuoren opettajan työtaakkaa ja helpottavan uran alkuvaiheen haasteita. Tukea tarjotaan usein mentoroinnin avulla, joskaan Suomessa ei ole systemaattista järjestelmää nuorten opettajien tukemiseen. Yhteisopetus on työtapa, joka on yleistynyt vähitellen opettajien keskuudessa samalla, kun opettajan työ on muuttunut yhä yhteisöllisemmäksi. Yhteisopetuksessa kaksi opettajaa jakaa vastuun opetuksen suunnittelusta, toteuttamisesta ja arvioinnista. Sekä yhteisopettajuutta että mentorointia on tutkittu Suomessa jonkin verran ja kansainvälisesti laajasti. Yhteisopettajuutta ei ole juurikaan tutkittu nuoren opettajan näkökulmasta. Tässä tutkimuksessa yhteisopettajuutta tarkastellaan nuoren opettajan näkökulmasta. Tutkimuksen tarkoituksena on selvittää, mitä nuoret opettajat kertovat yhteisopettajuudesta. Olen kiinnostunut erityisesti siitä, millaista tukea yhteisopettajuus tarjoaa nuorelle opettajalle opettajuuteen ja opettajan työhön. Lisäksi tutkimuksen tarkoituksena on peilata nuorten opettajien yhteisopettajuudesta saamaa tukea mentorointiin ja pohtia yhteisopettajuuden mahdollisuuksia nuorten opettajien tukemisessa. Tutkimuksen teoreettinen viitekehys rakentuu opettajan uran alkuvaiheen ja mentoroinnin tarkastelusta sekä yhteisopetuksen näkökulmista. Tutkimus on metodologialtaan narratiivinen eli kerronnallinen tutkimus. Kerronnallinen tutkimusmetodologia mahdollistaa nuorten opettajien kertomien kokemusten ymmärtämisen. Kerronnallisuus antaa tässä tutkimuksessa tilaa niille kokemuksille, joiden kertomisen nuoret opettajat kokevat tärkeäksi. Tämän tutkimuksen tulosten perusteella yhteisopettajuus näyttäytyy nuorelle opettajalle keskeisenä osana omaa työtä, opettajan työn ”kivijalkana”. Se mahdollistaa muun muassa vastuun jakamisen monilla osa-alueilla, huolestuttavista asioista puhumisen sekä opettajan itsevarmuuden kasvamisen. Toisaalta se voi myös haastaa opettajuutta ja vaatii opettajilta selkeää yhteistä näkemystä opetustyöstä. Yhteisopettajuus tarjoaa nuorelle opettajalle tukea viidellä eri osa-alueella, joita ovat jaettu reflektio, pedagogiset ratkaisut, opettajana kehittyminen, kodin ja koulun yhteistyö sekä työssä viihtyminen. Yhteisopettajuus tarjoaa tämän tutkimuksen perusteella monelta osin samankaltaista tukea kuin mentorointi. Lisäksi yhteisopettajuuden tarjoama tuki nivoutuu luontevaksi osaksi nuoren opettajan työpäivää

Relationships between pre-service primary teachers' beliefs, understandings, and planning of inquiry-based teaching in biology education

Abstract This study examines the relationships between preservice primary teachers’ (PSTs) views, understandings, and implementations of inquiry-based teaching (IBT) in primary biology education. In earlier studies, these relationships have been researched separately. Exploring them simultaneously allows a greater insight into the process of teacher change and science teacher identity development. Drawing on the narrative method, data included learning diaries, lesson plans, and interviews during a two year research period. Our findings reveal the complex relationships between three aspects of IBT. For example, embracing views of IBT were sometimes accompanied by a significant understanding of IBT and other times by a weak understanding. Whereas, hesitant views of IBT also went together with significant understanding. We discuss these relationships in the light of their impact on science teacher identity and provide suggestions for teacher education

The nature of the relation between pre-service teachers’ views of an ideal teacher and their positive memories of biology and geography teachers

Abstract Literature acknowledges that pre-service teachers’ memories of their past might influence how they see their future as teachers, and thus on the construction of their teacher identity. However, we know little about the nature of the relation between pre-service teachers’ views of the ideal teacher and their memories of their own school teachers, particularly regarding specific subject disciplines, such as biology and geography. This study addresses the significance of this relation. Narratives from three pre-service elementary teachers reveal that positive memories of biology and geography teachers and future-oriented reflection connect their past and the ideal teacher. The findings suggest that just one positive memory can have far-reaching significance. In addition, their views of the ideal teacher were found not to be subject-specific. Finally, suggestions for teacher education are presented

The change in pre-service primary teachers’ possible selves in relation to science teaching

Abstract This study examines pre-service primary school teachers’ (PSTs’) possible selves in relation to science teaching and the ways in which these possible selves change over time. This longitudinal study adds to the body of knowledge by examining PSTs’ possible selves at various time points throughout their teacher preparation: three PSTs, selected from a wider sample, were interviewed three times about their future aspirations as science teachers. Narrative analysis was applied to show the changes in three PSTs’ possible selves in response to the science methods course and teaching practicum. PSTs articulated general, collective and specific hoped-for and feared possible selves. Our findings highlight the changes in the possible selves that pertain to their cognitive and affective dimensions and occurred in different stages of teacher education. These changes were significant for the development of PSTs’ identity. The implications of these findings are discussed in the context of science teaching

Geography tests in the Finnish Matriculation Examination in paper and digital forms:an analysis of questions based on revised Bloom’s taxonomy

Abstract This study examines the possible change in cognitive processes and geographical knowledge requirements during the digitalisation process of the Finnish Matriculation Examination in Geography (digitalised in the autumn of 2016). The theoretical background is derived from revised Bloom’s taxonomy, which is applied as a framework for the content analysis of the questions (n = 331) of the geography tests between the autumn of 2013 and the spring of 2019. The results show that the questions mainly require an understanding of conceptual and factual knowledge. Because of the digitalisation, questions that require remembering have been reduced, whereas questions that require analysing have been increased. In addition, more comprehensive use and more extensive production of materials are required in the tests. Based on our research findings, we emphasise the need for a careful re-evaluation of the kind of cognitive processes and knowledge that should be assessed in geography tests, both nationally and internationally

Geography curricula objectives and students’ performance:enhancing the student’s higher-order thinking skills?

Abstract This paper centers on to evaluate whether and to what extent the learning objectives of the geography curricula emphasize students’ higher-order thinking skills (HOTS), and whether students are capable of answering to HOTS-questions by using the Finnish upper secondary geography education as an example. The revised Bloom’s taxonomy was used as a framework for the content analysis. The findings show that geography has the potential to enhance students’ HOTS, but students experience difficulties when answering to HOTS-questions. The results could be used to evaluate the desired thinking skills and knowledge dimensions in geography education for to enhance students meaningful learning