56 research outputs found

    Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people

    Get PDF
    The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on the trait. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered. We present a multicohort genome-wide association study (GWAS) of five traits assessed individually using psychometric measures (word reading, nonword reading, spelling, phoneme awareness, and nonword repetition) in samples of 13,633 to 33,959 participants aged 5 to 26 y. We identified genome-wide significant association with word reading (rs11208009, P = 1.098 × 10−8) at a locus that has not been associated with intelligence or educational attainment. All five reading-/language-related traits showed robust SNP heritability, accounting for 13 to 26% of trait variability. Genomic structural equation modeling revealed a shared genetic factor explaining most of the variation in word/nonword reading, spelling, and phoneme awareness, which only partially overlapped with genetic variation contributing to nonword repetition, intelligence, and educational attainment. A multivariate GWAS of word/nonword reading, spelling, and phoneme awareness maximized power for follow-up investigation. Genetic correlation analysis with neuroimaging traits identified an association with the surface area of the banks of the left superior temporal sulcus, a brain region linked to the processing of spoken and written language. Heritability was enriched for genomic elements regulating gene expression in the fetal brain and in chromosomal regions that are depleted of Neanderthal variants. Together, these results provide avenues for deciphering the biological underpinnings of uniquely human traits

    Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people

    Get PDF
    The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30-80%, depending on the trait. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered. We present a multicohort genome-wide association study (GWAS) of five traits assessed individually using psychometric measures: word reading, nonword reading, spelling, phoneme awareness, and nonword repetition, in samples of 13,633 to 33,959 participants aged 5-26 years. We identified genome-wide significant association with word reading (rs11208009, p=1.098 x 10-8) at a locus that has not been associated with intelligence or educational attainment. All five reading-/language-related traits showed robust SNP-heritability, accounting for 13-26% of trait variability. Genomic structural equation modelling revealed a shared genetic factor explaining most variation in word/nonword reading, spelling, and phoneme awareness, which only partially overlapped with genetic variation contributing to nonword repetition, intelligence and educational attainment. A multivariate GWAS of word/nonword reading, spelling, and phoneme awareness maximized power for follow-up investigation. Genetic correlation analysis of multivariate GWAS results with neuroimaging traits identified association with the surface area of the banks of the left superior temporal sulcus, a brain region linked to processing of spoken and written language. Heritability was enriched for genomic elements regulating gene expression in the fetal brain, and in chromosomal regions that are depleted of Neanderthal variants. Together, these results provide new avenues for deciphering the biological underpinnings of uniquely human traits

    Environmental pollution caused by existing manure from animal farms in mediterranean region [Akdeniz bölgesindeki hayvancilik i·şletmelerinde gübrenin yarattigi çevre kirliligi]

    No full text
    Manure from livestock building, when not stored properly, causes environmental problems including odor and visual pollution. The manure supplied from animal barns should necessarily be stored for future use in closed manure storages, which are built according to standards. Manure storages should have enough capacity to store manure for certain days. Closed manure storage structure can be used to prevent environmental pollution caused by manure from animal farm. The study was conducted at animal farms in Adana, Mersin and Burdur province. The aim was to investigate effects of manure produced at the farms on environmental pollution. Farms were chosen employing aimed sampling method and 197 farms constituted the material of the study. Simple random sampling method was used to select farms in the questionnaire. Auxiliary sections of buildings at which solid and liquid manure were stored at farm surveyed were mostly neglected. It was determined in 80% of the farms; manure which is used as animal waste was stored outside. Results showed that animal manure caused odor and visual pollution. Additionally, it was concluded that animal manure was considered as a pollutant to surface and ground water as long as it is stored outside in a pile

    Effects of artificial tear treatment on corneal epithelial thickness and cornea topography findings in dry eye patients

    No full text
    Conclusion.- Artificial tear treatment in dry eye patients seems to increase central corneal epithelial and mid-peripheral corneal thicknesses. Measurement of corneal epithelial thickness can be a useful tool for evaluation of treatment response in dry eye patients. Further long-term prospective studies are needed to investigate this item. (C) 2018 Elsevier Masson SAS. All rights reserved
    corecore