English language teachers’ conceptualizations of language awareness and its use in English language teaching in Finnish basic education grades 7–9

Abstract. This pro gradu thesis investigates English language teachers’ conceptualizations of language awareness (LA), which is a concept introduced in the Finnish national core curriculum for basic education 2014 update. The aim of the research was to determine how English language teachers describe language awareness and how they utilize it in teaching. The LA research field has a variety of contexts and definitions of LA, which has also been evident in the previous research in Finland. However, the amount of research on LA in Finnish education context is scarce. The limited previous research has revealed that teachers have divergent conceptions of LA and confusion in interpreting the aim and goals of LA in the National core curriculum. This thesis aimed at contributing to the limited research on teachers’ LA within Finland. The research was conducted by interviewing four English language teachers teaching in basic education grades 7–9. The interviews were semi-structured and were held individually, after which the interview data was transcribed and subjected to content analysis. The analysis resulted in six themes depicting the LA conceptualizations of the participant teachers. The analysis revealed diverse LA conceptualizations and teaching methods. The teachers’ conceptualizations differed in the opinions on LA’s importance and prevalence, context of LA, and in teaching methods. Although there were also similarities in the LA descriptions, some of the teachers’ methods and experiences differed drastically from each other. For example, one of the teachers emphasized LA in the way of which the teacher provides speech, e.g., instructions and explaining terminology, whereas one discussed LA with a focus on English subject culture contents. In addition, there were drastically opposing opinions on the importance of LA. The nature of LA in teaching was also determined teacher dependent based on the teachers’ opinions and was also evident in the teaching method examples.Yläkoulun opettajien käsityksiä kielitietoisuudesta ja sen käytöstä englannin kielen opetuksessa suomalaisessa peruskoulussa. Tiivistelmä. Tämä pro gradu -tutkielma tarkastelee englannin kielen opettajien käsityksiä kielitietoisuudesta, joka on viimeisimmän Perusopetuksen opetussuunnitelman perusteiden (2014) käyttöön ottama käsite. Tarkoituksena oli määritellä kuinka englannin kielen opettajat käsittävät kielitietoisuuden käsitteen ja kuinka he toteuttavat kielitietoista opetusta. Kielitietoisuuden tutkimuskenttä sisältää erilaisia asiayhteyksiä sekä kielitietoisuuden määritelmiä, mikä on ilmennyt myös aiemmissa suomalaisissa tutkimuksissa. Aiempi tutkimus kielitietoisuudesta suomalaisen koulutuksen yhteydessä on kuitenkin vähäistä. Tästä rajallisesta tutkimuksesta on selvinnyt, että opettajilla on moninaisia käsityksiä kielitietoisuudesta sekä epäselvyyttä opetussuunnitelman kielitietoisuutta käsittelevien tavoitteiden hahmottamisessa. Tämän opinnäytetyön tavoitteena oli täydentää aiempaa rajallista tutkimustietoa opettajien kielitietoisuudesta suomalaisen koulutusjärjestelmän sisällä. Tutkimus toteutettiin haastattelemalla neljää yläkoulun englannin kielen opettajaa. Nämä puolistrukturoidut haastattelut järjestettiin yksilöllisesti, minkä jälkeen haastatteluaineisto litteroitiin ja käsiteltiin sisällönanalyysillä. Analyysissä rakentui kuusi opettajien kielitietoisuuden käsityksiä määrittelevää teemaa. Analyysin perusteella opettajien käsitykset kielitietoisuudesta sekä kielitietoiset opetustavat olivat moninaisia. Eroavaisuuksia oli mielipiteissä kielitietoisuuden tärkeydestä, esiintymisestä, kielitietoisuuden asiayhteyksistä sekä opetusmetodeista. Vaikka kielitietoisuuden määritelmissä oli myös yhtäläisyyksiä, osa opettajien menetelmistä ja kokemuksista poikkesivat huomattavasti toisistaan. Esimerkiksi yksi opettajista painotti kielitietoisuutta opettajan tuottamaan puheeseen liittyen, esimerkiksi ohjeistuksissa, ja toinen kuvaili kielitietoisuutta englannin oppiaineen kulttuurisisältöjen kautta. Lisäksi mielipiteet kielitietoisuuden tärkeydestä poikkesivat suuresti toisistaan. Kielitietoisuuden luonne määriteltiin myös opettajasta riippuvaksi tutkimukseen osallistuneiden opettajien mielipiteiden perusteella, mikä havainnollistui myös opetusmenetelmäesimerkeissä

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

Abstract Autosomal genetic analyses of blood lipids have yielded key insights for coronary heart disease (CHD). However, X chromosome genetic variation is understudied for blood lipids in large sample sizes. We now analyze genetic and blood lipid data in a high-coverage whole X chromosome sequencing study of 65,322 multi-ancestry participants and perform replication among 456,893 European participants. Common alleles on chromosome Xq23 are strongly associated with reduced total cholesterol, LDL cholesterol, and triglycerides (min P = 8.5 × 10−72), with similar effects for males and females. Chromosome Xq23 lipid-lowering alleles are associated with reduced odds for CHD among 42,545 cases and 591,247 controls (P = 1.7 × 10−4), and reduced odds for diabetes mellitus type 2 among 54,095 cases and 573,885 controls (P = 1.4 × 10−5). Although we observe an association with increased BMI, waist-to-hip ratio adjusted for BMI is reduced, bioimpedance analyses indicate increased gluteofemoral fat, and abdominal MRI analyses indicate reduced visceral adiposity. Co-localization analyses strongly correlate increased CHRDL1 gene expression, particularly in adipose tissue, with reduced concentrations of blood lipids

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele

Genetic architecture of human plasma lipidome and its link to cardiovascular disease

Abstract Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10−8), 10 of which associate with CVD risk including five new loci-COL5A1, GLTPD2, SPTLC3, MBOAT7 and GALNT16 (false discovery rate<0.05). We identify loci for lipid species that are shown to predict CVD e.g., SPTLC3 for CER(d18:1/24:1). We show that lipoprotein lipase (LPL) may more efficiently hydrolyze medium length triacylglycerides (TAGs) than others. Polyunsaturated lipids have highest heritability and genetic correlations, suggesting considerable genetic regulation at fatty acids levels. We find low genetic correlations between traditional lipids and lipid species. Our results show that lipidomic profiles capture information beyond traditional lipids and identify genetic variants modifying lipid levels and risk of CVD

Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata

Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated loci harbour genes enriched for development, growth, and cellular senescence. Of particular interest are the smooth muscle cell differentiation and proliferation-regulating genes functioning on the myocardin-cyclin dependent kinase inhibitor 1A pathway. Our results further suggest that genetic predisposition to increased fat-free mass may be causally related to higher UL risk, underscoring the involvement of altered muscle tissue biology in UL pathophysiology. Overall, our findings add to the understanding of the genetic pathways underlying UL, which may aid in developing novel therapeutics.Peer reviewe

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele