Search results for "isyys"

Kulttuurisensitiivinen musiikin opetusmateriaali yläasteen ja lukion musiikinopetuksessa

1998

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

2013

Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, including 37,382 individuals from 27 studies of European ancestry and 8,376 from 5 Asian cohorts. We identified 16 new loci for refractive error in individuals of European ancestry, of which 8 were shared with Asians. Combined analysis identified 8 additional associated loci. The new loci include candidate genes with functions in neurotransmission (GRIA4), ion transport (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2 and BMP2) and eye…

Experimental introgression in Drosophila : Asymmetric postzygotic isolation associated with chromosomal inversions and an incompatibility locus on th…

2022

Interspecific gene flow (introgression) is an important source of new genetic variation, but selection against it can reinforce reproductive barriers between interbreeding species. We used an experimental approach to trace the role of chromosomal inversions and incompatibility genes in preventing introgression between two partly sympatric Drosophila virilis group species, D. flavomontana and D. montana. We backcrossed F1 hybrid females from a cross between D. flavomontana female and D. montana male with the males of the parental species for two generations and sequenced pools of parental strains and their reciprocal 2nd generation backcross (BC2mon and BC2fla) females. Contrasting the obser…

Iloisia lapsia Onnelassa : lapsuus ja perhe-elämä TV-mainoksissa

1997

Rare variant analyses across multiethnic cohorts identify novel genes for refractive error

2023

Refractive error, measured here as mean spherical equivalent (SER), is a complex eye condition caused by both genetic and environmental factors. Individuals with strong positive or negative values of SER require spectacles or other approaches for vision correction. Common genetic risk factors have been identified by genome-wide association studies (GWAS), but a great part of the refractive error heritability is still missing. Some of this heritability may be explained by rare variants (minor allele frequency [MAF] ≤ 0.01.). We performed multiple gene-based association tests of mean Spherical Equivalent with rare variants in exome array data from the Consortium for Refractive Error and Myopi…

Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive err…

2020

Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature GWAS in 44,042 individuals of Caucasian and Asian with replication in 88,218 UK Biobank data. We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. Some identified variants showed precise scaling in corneal curvature and eye elongation (i.e. axial length) to maintain eyes in emmetropia (i.e. HDAC11/FBLN2 rs2630445, RBP3 rs11204213); others exhibited association with myopia with little pleiotropic effects …

Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consorti…

2016

Myopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of association between genetic variants at these 39 loci and refractive error was investigated in 5200 children assessed longitudinally across ages 7–15 years, along with gene-environment interactions involving the major environmental risk-factors, nearwork and time outdoors. Specific variants could be categorized as showing evidence of: (a) early-onset effects remaining stable through childhood, (b) early-onset effects that progressed further with i…

Genome-wide association and large scale follow-up identifies 16 new loci influencing lung function.

2011

Pulmonary function measures reflect respiratory health and are used in the diagnosis of chronic obstructive pulmonary disease. We tested genome-wide association with forced expiratory volume in 1 second and the ratio of forced expiratory volume in 1 second to forced vital capacity in 48,201 individuals of European ancestry with follow up of the top associations in up to an additional 46,411 individuals. We identified new regions showing association (combined P < 5 × 10−8) with pulmonary function in or near MFAP2, TGFB2, HDAC4, RARB, MECOM (also known as EVI1), SPATA9, ARMC2, NCR3, ZKSCAN3, CDC123, C10orf11, LRP1, CCDC38, MMP15, CFDP1 and KCNE2. Identification of these 16 new loci may provid…

Yksityisyysongelmat geososiaalisissa verkostopalveluissa

2017

Sosiaalisen median suosion kasvu on jatkunut jo pitkään. Viime vuosina erilaisia sosiaalisen median palveluja on alettu käyttää yhä enemmän mobiililaitteilla ja samalla paikkatiedon hyödyntäminen palveluissa on yleistynyt. Voidaankin todeta, että sosiaalisen median alle on syntynyt uusi alakategoria, paikkatietoa hyödyntävät mobiilit sosiaaliset verkostopalvelut, eli toisin sanoen geososiaaliset verkostopalvelut. On yleisessä tiedossa, että sosiaalisen median palvelut keräävät erilaisia tietoja käyttäjistään. Paikkatietoa hyödyntävien palveluiden yleistymisen myötä myös kerätyn tiedon määrä kasvaa ja näin ollen kasvaa myös uusien yksityisyysongelmien mahdoll…

"Kyllä sitä aika suomalainen kuitenkin on" : kansalaisjärjestötoimijoiden globaali orientaatio, kansallinen identiteetti ja kansalaisuus

2008

Tässä tutkimuksessa tarkasteltavana ovat globaalien muutosten mukanaan tuomat haasteet, joita kansallisvaltio, kansalaisuus ja kansallinen identiteetti kohtaavat globalisoituvassa maailmassa. Tutkimustehtävänä on selvittää kansalaisjärjestötoimijoiden globaalin orientaation, kansallisen identiteetin ja kansalaisuuden välistä suhdetta sekä kansalaistoiminnan merkitystä globaalin orientaation ja kansalaisyhteiskunnan kehittymisen näkökulmista. Aineistona on 11 kansalaisjärjestötoimijan teemahaastattelu ja analyysissa sovelletaan Straussin & Corbinin (1990) grounded teoreettisia sekä Layderin (1998) adaptiivisen teorianmuodostuksen periaatteita. Keskeiset tutkimustulokset osoittavat, että glob…