”Muistan omilta kouluajoilta atk-kurssin ohjelmointihetken, jossa tunti opeteltiin kirjoittamaan pascal -koodia ja lopputulemana näytölle ilmestyi pikselin kokoinen piste.”:tapaustutkimus ohjelmoinnin opettamisesta suomalaisissa peruskouluissa

Tiivistelmä. Ohjelmoinnin ja ohjelmoinnillisen ajattelun nähdään kansainvälisesti lukeutuvan osaksi tulevaisuuden taitoja. Digitalisoituva yhteiskunta ja sen tarpeet ovat lähtökohtana näiden taitojen tärkeydelle. Ohjelmoinnin opetus sisällytettiin osaksi Perusopetuksen opetussuunnitelmien perusteita vuonna 2014. Tämä ei ole vielä kuitenkaan tarjonnut riittävän yhtenäisiä lähtökohtia ohjelmoinnin opetukselle kansallisella tasolla suomalaisissa peruskouluissa. Tässä pro gradu -tutkielmassa teoreettisen viitekehyksen muodostavat ohjelmointi, ohjelmoinnillinen ajattelu sekä näiden välinen yhteys. Tutkielman tavoitteena oli selvittää, millaisin eri tavoin ohjelmointia opetetaan suomalaisissa peruskouluissa ja määritellä, mitä ohjelmoinnin opetus pitää sisällään. Ohjelmoinnin opetusta lähestyttiin ohjelmoinnillisen ajattelun kehityksen kautta, ja tutkielman päämääränä oli selvittää, minkälaisia käsitteitä, käytänteitä ja päämääriä opetus sisältää. Tutkielma toteutettiin laadullisena tapaustutkimuksena, jota analysoitiin teoriaohjaavan sisällönanalyysin keinoin. Tutkielman aineisto koostui 42 kyselytutkimukseen osallistuneen opettajan tai muun kasvatusalan ammattilaisen vastauksista. Tutkielman tuloksissa selvisi, että suomalaisissa peruskouluissa tapahtuvassa ohjelmoinnin opetuksessa korostuvat keskeiset ohjelmoinnin käsitteet tukevat ja toisaalta tukeutuvat aiemmissa tutkimuksissa ja julkaisuissa mainittuihin keskeisiin ohjelmoinnin käsitteisiin. Tulokset myös osoittivat, että ohjelmointia opetetaan suomalaisissa peruskouluissa hyödyntäen useita eri ohjelmoinnin opetukselle teoriankin mukaan ominaisia työtapoja, toimintamalleja ja tehtävätyyppejä. Tulosten mukaan ohjelmoinnin opetuksen päämäärät suomalaisissa peruskouluissa niin ikään kulkevat käsikkäin teorian kanssa, jonka mukaan ohjelmoinnin opettamisen päämäärien tulisi sijaita itsensä ohjelmointitaidon ulkopuolisten, laaja-alaisempien tavoitteiden, kuten monilukutaidon, ajatteluntaitojen sekä työ- ja elinkeinoelämän tarpeiden ja vaateiden luona

Association of height and pubertal timing with lipoprotein subclass profile: exploring the role of genetic and environmental effects

Objectives: Little is known about the relationship between growth and lipoprotein profile. We aimed to analyze common genetic and environmental factors in the association of height from late childhood to adulthood and pubertal timing with serum lipid and lipoprotein subclass profile. Methods: A longitudinal cohort of Finnish twin pairs (FinnTwin12) was analysed using self-reported height at 11-12, 14, 17 years and measured stature at adult age (21-24 years). Data were available for 719 individual twins including 298 complete pairs. Serum lipids and lipoprotein subclasses were measured by proton nuclear magnetic resonance spectroscopy. Multivariate variance component models for twin data were fitted. Cholesky decomposition was used to partition the phenotypic covariation among traits into additive genetic and unique environmental correlations. Results: In men, the strongest associations for both adult height and puberty were observed with total cholesterol, low-density lipoprotein cholesterol, intermediate-density lipoprotein cholesterol and low-density lipoprotein particle subclasses (max. r = -0.19). In women, the magnitude of the correlations was weaker (max. r = -0.13). Few associations were detected between height during adolescence and adult lipid profile. Early onset of puberty was related to an adverse lipid profile, but delayed pubertal development in girls was associated with an unfavorable profile, as well. All associations were mediated mainly by additive genetic factors, but unique environmental effects cannot be disregarded. Conclusions: Early puberty and shorter adult height relate to higher concentrations of atherogenic lipids and lipoprotein particles in early adulthood. Common genetic effects behind these phenotypes substantially contribute to the observed associations

A comparison of anthropometric, metabolic, and reproductive characteristics of young adult women from opposite-sex and same-sex twin pairs

Background: Prenatal exposure to androgens has been linked to masculinization of several traits. We aimed to determine whether putative female intra-uterine exposure to androgens influences anthropometric, metabolic, and reproductive parameters using a twin design. Methods: Two cohorts of Finnish twins born in 1975&ndash;1979 and 1983&ndash;1987 formed the basis for the longitudinal FinnTwin16 (FT16) and FinnTwin12 (FT12) studies. Self-reported anthropometric characteristics, disease status, and reproductive history were compared between 679 same-sex (SS) and 789 opposite-sex (OS) female twins (mean age &plusmn; SD: 34 &plusmn; 1.1) from the wave 5 of data collection in FT16. Serum lipid and lipoprotein subclass concentrations measured by nuclear magnetic resonance spectroscopy were compared in 226 SS and 169 OS female twins (mean age &plusmn; SD: 24 &plusmn; 2.1) from the wave 4 of data collection in FT12 and FT16. Results: Anthropometric measures, the prevalence of hypertension and diabetes mellitus type 2 did not differ significantly between females from SS and OS twin pairs at age 34. Similarly, the prevalence of infertility, age at first pregnancy and number of induced and spontaneous abortions did not differ significantly between these two groups of women. The serum lipid and lipoprotein profile did not differ between females from SS and OS twins at age 24. Conclusion: We found no evidence that androgen overexposure of the female fetus affects obesity, metabolic profile, or reproductive health in young adult females. However, these results do not exclude the possibility that prenatal androgen exposure in females could be adversely associated with these phenotypes later in life.</p

A comparison of anthropometric, metabolic, and reproductive characteristics of young adult women from opposite-sex and same-sex twin pairs

Background: Prenatal exposure to androgens has been linked to masculinization of several traits. We aimed to determine whether putative female intra-uterine exposure to androgens influences anthropometric, metabolic, and reproductive parameters using a twin design. Methods: Two cohorts of Finnish twins born in 1975-1979 and 1983-1987 formed the basis for the longitudinal FinnTwin16 (FT16) and FinnTwin12 (FT12) studies. Self-reported anthropometric characteristics, disease status, and reproductive history were compared between 679 same-sex (SS) and 789 opposite-sex (OS) female twins (mean age ± SD: 34 ± 1.1) from the wave 5 of data collection in FT16. Serum lipid and lipoprotein subclass concentrations measured by nuclear magnetic resonance spectroscopy were compared in 226 SS and 169 OS female twins (mean age ± SD: 24 ± 2.1) from the wave 4 of data collection in FT12 and FT16. Results: Anthropometric measures, the prevalence of hypertension and diabetes mellitus type 2 did not differ significantly between females from SS and OS twin pairs at age 34. Similarly, the prevalence of infertility, age at first pregnancy and number of induced and spontaneous abortions did not differ significantly between these two groups of women. The serum lipid and lipoprotein profile did not differ between females from SS and OS twins at age 24. Conclusion: We found no evidence that androgen overexposure of the female fetus affects obesity, metabolic profile, or reproductive health in young adult females. However, these results do not exclude the possibility that prenatal androgen exposure in females could be adversely associated with these phenotypes later in life.Peer reviewe

Abdominal obesity and circulating metabolites : A twin study approach

Objective. To investigate how obesity, insulin resistance and low-grade inflammation link to circulating metabolites, and whether the connections are due to genetic or environmental factors. Subjects and methods. Circulating serum metabolites were determined by proton NMR spectroscopy. Data from 1368 (531 monozygotic (MZ) and 837 dizygotic (DZ)) twins were used for bivariate twin modeling to derive the genetic (r(g)) and environmental (re) correlations between waist circumference (WC) and serum metabolites. Detailed examination of the associations between fat distribution (DEXA) and metabolic health (HOMA-IR, CRP) was performed among 286 twins including 33 BMI-discordant MZ pairs (intrapair BMI difference >= 3 kg/m(2)). Results. Fat, especially in the abdominal area (i.e. WC, android fat % and android to gynoid fat ratio), together with HOMA-IR and CRP correlated significantly with an atherogenic lipoprotein profile, higher levels of branched-chain (BCAA) and aromatic amino acids, higher levels of glycoprotein, and a more saturated fatty acid profile. In contrast, a higher proportion of gynoid to total fat associated with a favorable metabolite profile. There was a significant genetic overlap between WC and several metabolites, most strongly with phenylalanine (r(g) = 0.40), glycoprotein (r(g) = 0.37), serum triglycerides (r(g) = 0.36), BCAAs (r(g) = 0.30-0.40), HDL particle diameter (r(g) = -0.33) and HDL cholesterol (r(g) = -0.30). The effect of acquired obesity within the discordant MZ pairs was particularly strong for atherogenic lipoproteins. Conclusions. A wide range of unfavorable alterations in the serum metabolome was associated with abdominal obesity, insulin resistance and low-grade inflammation. Twin modeling and obesity-discordant twin analysis suggest that these associations are partly explained by shared genes but also reflect mechanisms independent of genetic liability. (C) 2015 Elsevier Inc. All rights reserved.Peer reviewe

Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study

The prevalence of hypertension in African Americans (AAs) is higher than in other US groups; yet, few have performed genome-wide association studies (GWASs) in AA. Among people of European descent, GWASs have identified genetic variants at 13 loci that are associated with blood pressure. It is unknown if these variants confer susceptibility in people of African ancestry. Here, we examined genome-wide and candidate gene associations with systolic blood pressure (SBP) and diastolic blood pressure (DBP) using the Candidate Gene Association Resource (CARe) consortium consisting of 8591 AAs. Genotypes included genome-wide single-nucleotide polymorphism (SNP) data utilizing the Affymetrix 6.0 array with imputation to 2.5 million HapMap SNPs and candidate gene SNP data utilizing a 50K cardiovascular gene-centric array (ITMAT-Broad-CARe [IBC] array). For Affymetrix data, the strongest signal for DBP was rs10474346 (P= 3.6 × 10−8) located near GPR98 and ARRDC3. For SBP, the strongest signal was rs2258119 in C21orf91 (P= 4.7 × 10−8). The top IBC association for SBP was rs2012318 (P= 6.4 × 10−6) near SLC25A42 and for DBP was rs2523586 (P= 1.3 × 10−6) near HLA-B. None of the top variants replicated in additional AA (n = 11 882) or European-American (n = 69 899) cohorts. We replicated previously reported European-American blood pressure SNPs in our AA samples (SH2B3, P= 0.009; TBX3-TBX5, P= 0.03; and CSK-ULK3, P= 0.0004). These genetic loci represent the best evidence of genetic influences on SBP and DBP in AAs to date. More broadly, this work supports that notion that blood pressure among AAs is a trait with genetic underpinnings but also with significant complexit

Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA

Genome-wide association studies have identified numerous loci linked with complex diseases, for which the molecular mechanisms remain largely unclear. Comprehensive molecular profiling of circulating metabolites captures highly heritable traits, which can help to uncover metabolic pathophysiology underlying established disease variants. We conduct an extended genome-wide association study of genetic influences on 123 circulating metabolic traits quantified by nuclear magnetic resonance metabolomics from up to 24,925 individuals and identify eight novel loci for amino acids, pyruvate and fatty acids. The LPA locus link with cardiovascular risk exemplifies how detailed metabolic profiling may inform underlying aetiology via extensive associations with very-low-density lipoprotein and triglyceride metabolism. Genetic fine mapping and Mendelian randomization uncover wide-spread causal effects of lipoprotein(a) on overall lipoprotein metabolism and we assess potential pleiotropic consequences of genetically elevated lipoprotein(a) on diverse morbidities via electronic health-care records. Our findings strengthen the argument for safe LPA-targeted intervention to reduce cardiovascular risk.Peer reviewe

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

Blood pressure is a heritable trait influenced by several biological pathways and responsive to environmental stimuli. Over one billion people worldwide have hypertension (≥140 mm Hg systolic blood pressure or  ≥90 mm Hg diastolic blood pressure). Even small increments in blood pressure are associated with an increased risk of cardiovascular events. This genome-wide association study of systolic and diastolic blood pressure, which used a multi-stage design in 200,000 individuals of European descent, identified sixteen novel loci: six of these loci contain genes previously known or suspected to regulate blood pressure (GUCY1A3-GUCY1B3, NPR3-C5orf23, ADM, FURIN-FES, GOSR2, GNAS-EDN3); the other ten provide new clues to blood pressure physiology. A genetic risk score based on 29 genome-wide significant variants was associated with hypertension, left ventricular wall thickness, stroke and coronary artery disease, but not kidney disease or kidney function. We also observed associations with blood pressure in East Asian, South Asian and African ancestry individuals. Our findings provide new insights into the genetics and biology of blood pressure, and suggest potential novel therapeutic pathways for cardiovascular disease prevention

Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study.

The prevalence of hypertension in African Americans (AAs) is higher than in other US groups; yet, few have performed genome-wide association studies (GWASs) in AA. Among people of European descent, GWASs have identified genetic variants at 13 loci that are associated with blood pressure. It is unknown if these variants confer susceptibility in people of African ancestry. Here, we examined genome-wide and candidate gene associations with systolic blood pressure (SBP) and diastolic blood pressure (DBP) using the Candidate Gene Association Resource (CARe) consortium consisting of 8591 AAs. Genotypes included genome-wide single-nucleotide polymorphism (SNP) data utilizing the Affymetrix 6.0 array with imputation to 2.5 million HapMap SNPs and candidate gene SNP data utilizing a 50K cardiovascular gene-centric array (ITMAT-Broad-CARe [IBC] array). For Affymetrix data, the strongest signal for DBP was rs10474346 (P= 3.6 × 10(-8)) located near GPR98 and ARRDC3. For SBP, the strongest signal was rs2258119 in C21orf91 (P= 4.7 × 10(-8)). The top IBC association for SBP was rs2012318 (P= 6.4 × 10(-6)) near SLC25A42 and for DBP was rs2523586 (P= 1.3 × 10(-6)) near HLA-B. None of the top variants replicated in additional AA (n = 11 882) or European-American (n = 69 899) cohorts. We replicated previously reported European-American blood pressure SNPs in our AA samples (SH2B3, P= 0.009; TBX3-TBX5, P= 0.03; and CSK-ULK3, P= 0.0004). These genetic loci represent the best evidence of genetic influences on SBP and DBP in AAs to date. More broadly, this work supports that notion that blood pressure among AAs is a trait with genetic underpinnings but also with significant complexity

Causal effect of plasminogen activator inhibitor type 1 on coronary heart disease

Background--Plasminogen activator inhibitor type 1 (PAI-1) plays an essential role in the fibrinolysis system and thrombosis. Population studies have reported that blood PAI-1 levels are associated with increased risk of coronary heart disease (CHD). However, it is unclear whether the association reflects a causal influence of PAI-1 on CHD risk. Methods and Results--To evaluate the association between PAI-1 and CHD, we applied a 3-step strategy. First, we investigated the observational association between PAI-1 and CHD incidence using a systematic review based on a literature search for PAI-1 and CHD studies. Second, we explored the causal association between PAI-1 and CHD using a Mendelian randomization approach using summary statistics from large genome-wide association studies. Finally, we explored the causal effect of PAI-1 on cardiovascular risk factors including metabolic and subclinical atherosclerosis measures. In the systematic meta-analysis, the highest quantile of blood PAI-1 level was associated with higher CHD risk comparing with the lowest quantile (odds ratio=2.17; 95% CI: 1.53, 3.07) in an age- and sex-adjusted model. The effect size was reduced in studies using a multivariable-adjusted model (odds ratio=1.46; 95% CI: 1.13, 1.88). The Mendelian randomization analyses suggested a causal effect of increased PAI-1 level on CHD risk (odds ratio=1.22 per unit increase of log-transformed PAI-1; 95% CI: 1.01, 1.47). In addition, we also detected a causal effect of PAI-1 on elevating blood glucose and high-density lipoprotein cholesterol. Conclusions--Our study indicates a causal effect of elevated PAI-1 level on CHD risk, which may be mediated by glucose dysfunction