| 1. |
- Davies, G., et al.
(author)
-
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function
- 2018
-
In: Nature Communications. - : Nature Publishing Group. - 2041-1723. ; 9:1
-
Journal article (peer-reviewed)abstract
- General cognitive function is a prominent and relatively stable human trait that is associated with many important life outcomes. We combine cognitive and genetic data from the CHARGE and COGENT consortia, and UK Biobank (total N = 300,486; age 16-102) and find 148 genome-wide significant independent loci (P < 5 × 10-8) associated with general cognitive function. Within the novel genetic loci are variants associated with neurodegenerative and neurodevelopmental disorders, physical and psychiatric illnesses, and brain structure. Gene-based analyses find 709 genes associated with general cognitive function. Expression levels across the cortex are associated with general cognitive function. Using polygenic scores, up to 4.3% of variance in general cognitive function is predicted in independent samples. We detect significant genetic overlap between general cognitive function, reaction time, and many health variables including eyesight, hypertension, and longevity. In conclusion we identify novel genetic loci and pathways contributing to the heritability of general cognitive function.
|
|
| 2. |
- Elsik, Christine G., et al.
(author)
-
The Genome Sequence of Taurine Cattle : A Window to Ruminant Biology and Evolution
- 2009
-
In: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 324:5926, s. 522-528
-
Journal article (peer-reviewed)abstract
- To understand the biology and evolution of ruminants, the cattle genome was sequenced to about sevenfold coverage. The cattle genome contains a minimum of 22,000 genes, with a core set of 14,345 orthologs shared among seven mammalian species of which 1217 are absent or undetected in noneutherian (marsupial or monotreme) genomes. Cattle-specific evolutionary breakpoint regions in chromosomes have a higher density of segmental duplications, enrichment of repetitive elements, and species-specific variations in genes associated with lactation and immune responsiveness. Genes involved in metabolism are generally highly conserved, although five metabolic genes are deleted or extensively diverged from their human orthologs. The cattle genome sequence thus provides a resource for understanding mammalian evolution and accelerating livestock genetic improvement for milk and meat production.
|
|
| 3. |
|
|
| 4. |
- Hakkinen, K, et al.
(author)
-
Implementation of CYP2D6 copy-number imputation panel and frequency of key pharmacogenetic variants in Finnish individuals with a psychotic disorder
- 2022
-
In: The pharmacogenomics journal. - : Springer Science and Business Media LLC. - 1473-1150 .- 1470-269X. ; 22:3, s. 166-172
-
Journal article (peer-reviewed)abstract
- We demonstrate that CYP2D6 copy-number variation (CNV) can be imputed using existing imputation algorithms. Additionally, we report frequencies of key pharmacogenetic variants in individuals with a psychotic disorder from the genetically bottle-necked population of Finland. We combined GWAS chip and CYP2D6 CNV data from the Breast Cancer Pain Genetics study to construct an imputation panel (n = 902) for CYP2D6 CNV. The resulting data set was used as a CYP2D6 CNV imputation panel in 9262 non-related individuals from the SUPER-Finland study. Based on imputation of 9262 individuals we confirm the higher frequency of CYP2D6 ultrarapid metabolizers and a 22-fold enrichment of the UGT1A1 decreased function variant rs4148323 (UGT1A1*6) in Finland compared with non-Finnish Europeans. Similarly, the NUDT15 variant rs116855232 was highly enriched in Finland. We demonstrate that imputation of CYP2D6 CNV is possible and the methodology enables studying CYP2D6 in large biobanks with genome-wide data.
|
|
| 5. |
|
|
| 6. |
- Ahola, T, et al.
(author)
-
N-acetylcysteine does not prevent bronchopulmonary dysplasia in immature infants: A randomized controlled trial
- 2003
-
In: Journal of Pediatrics. - 1097-6833 .- 0022-3476. ; 143:6, s. 713-719
-
Journal article (peer-reviewed)abstract
- Objective To evaluate whether N-acetyleysteine (NAC) infusion during the first week of life reduces the risk of death or bronchopulmonary dysplasia (BPD in infants with extremely low birth weight. Study design In a Nordic multicenter, double-blind trial, infants (n = 391) weighing 500 to 999 g and on ventilator or nasal continuous positive airway pressure were randomized before the age of 36 hours to receive NAC 16 to 32 mg/kg/d (n = 194) or placebo (n = 197) intravenously for 6 days. Primary end points were death or BPD, defined as supplementary oxygen requirement at 36 weeks' gestational age. Results There was no difference in the combined incidence of the primary end points death or BPD, 51% vs. 49%, between the NAC group and control group. Also similar was the incidence of BPD in survivors at 36 weeks' gestational age, 40% vs. 40%, and the mean oxygen requirement at the age of 28 days, 31.2% vs. 30.7%, respectively. The severity of BPD was similar in both groups. Conclusions A 6-day course of intravenous N-acetylcysteine at the dosage used does not prevent BPD or death in infants with extremely low birth weight.
|
|
| 7. |
|
|
| 8. |
|
|
| 9. |
|
|
| 10. |
- Lang, J. J. K., et al.
(author)
-
Tin-stabilized (1 x 2) and (1 x 4) reconstructions on GaAs(100) and InAs(100) studied by scanning tunneling microscopy, photoelectron spectroscopy, and ab initio calculations
- 2011
-
In: Surface Science. - : Elsevier BV. - 0039-6028 .- 1879-2758. ; 605:9-10, s. 883-888
-
Journal article (peer-reviewed)abstract
- Tin (Sn) induced (1 x 2) reconstructions on GaAs(100) and InAs(100) substrates have been studied by low energy electron diffraction (LEED), photoelectron spectroscopy, scanning tunneling microscopy/spectroscopy (STM/STS) and ab initio calculations. The comparison of measured and calculated STM images and surface core-level shifts shows that these surfaces can be well described with the energetically stable building blocks that consist of Sn-III dimers. Furthermore, a new Sn-induced (1 x 4) reconstruction was found. In this reconstruction the occupied dangling bonds are closer to each other than in the more symmetric (1 x 2) reconstruction, and it is shown that the (1 x 4) reconstruction is stabilized as the adatom size increases.
|
|
