| 1. |
- Billings, LK, et al.
(författare)
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Impact of common variation in bone-related genes on type 2 diabetes and related traits
- 2012
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Ingår i: Diabetes. - : American Diabetes Association. - 1939-327X .- 0012-1797. ; 61:8, s. 2176-2186
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Tidskriftsartikel (refereegranskat)abstract
- Exploring genetic pleiotropy can provide clues to a mechanism underlying the observed epidemiological association between type 2 diabetes and heightened fracture risk. We examined genetic variants associated with bone mineral density (BMD) for association with type 2 diabetes and glycemic traits in large well-phenotyped and -genotyped consortia. We undertook follow-up analysis in ∼19,000 individuals and assessed gene expression. We queried single nucleotide polymorphisms (SNPs) associated with BMD at levels of genome-wide significance, variants in linkage disequilibrium (r2 > 0.5), and BMD candidate genes. SNP rs6867040, at the ITGA1 locus, was associated with a 0.0166 mmol/L (0.004) increase in fasting glucose per C allele in the combined analysis. Genetic variants in the ITGA1 locus were associated with its expression in the liver but not in adipose tissue. ITGA1 variants appeared among the top loci associated with type 2 diabetes, fasting insulin, β-cell function by homeostasis model assessment, and 2-h post–oral glucose tolerance test glucose and insulin levels. ITGA1 has demonstrated genetic pleiotropy in prior studies, and its suggested role in liver fibrosis, insulin secretion, and bone healing lends credence to its contribution to both osteoporosis and type 2 diabetes. These findings further underscore the link between skeletal and glucose metabolism and highlight a locus to direct future investigations.
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| 4. |
- GREHK, TM, et al.
(författare)
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CLEAN AND CS-EXPOSED SI(111)ROOT-3X-ROOT-3-B SURFACE STUDIED WITH HIGH-RESOLUTION PHOTOEMISSION
- 1995
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Ingår i: Physical Review B. Condensed Matter and Materials Physics. - 1098-0121 .- 1550-235X. ; 52:15, s. 11165-11171
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Tidskriftsartikel (refereegranskat)abstract
- Both the clean and Cs-exposed Si(111)root 3X root 3R30 degrees:B surfaces have been investigated by high-resolution photoemission. In the spectra from the Si 2p level, contributions were identified from the bulk, the adatoms plus the first layer, the second and 2/3 ML of the third-layer atoms not binding to the B atoms, and, finally, the 1/3 ML of third-layer atoms binding to the boron atoms. The interaction between the Cs atoms and the surface is found to be dependent on the coverage. At low coverages the geometric and electronic structure of the Si(111)root 3X root 3R30 degrees:B interface is only to a minor degree affected by the presence of Cs on the surface. At high coverage the Cs atoms react with the surface and alter the binding configuration of the Si adatoms.
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| 5. |
- Gurnett, M, et al.
(författare)
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Core-level spectroscopy study of the Li/Si(111)-3 x 1, Na/Si(111)-3 x 1, and K/Si(111)-3 x 1 surfaces
- 2005
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Ingår i: Physical Review B (Condensed Matter and Materials Physics). - 1098-0121. ; 71:19
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Tidskriftsartikel (refereegranskat)abstract
- In this article we report Si 2p core-level spectroscopy results from the alkali (Li, Na, and K) induced Si(111)-3 x 1 reconstructions. The experimental results are compared to the theoretical honeycomb-chain channel (HCC) model for,the 3 x 1 reconstruction using density functional theory (DFT) to calculate core-level shifts using both initial and final-state calculation schemes. Si 2p core-level spectra for the Li, Na, and K reconstructions showed two surface related components lying on either side of the main bulk Si 2P(3/2) peak. An additional higher binding energy component was found for K. All core-level spectra showed strong similarities leading to the conclusion that the surfaces do indeed share a common structure. With increasing alkali metal size, the lower binding energy component was found to shift away from the main bulk peak. Our theoretical calculations also show a similar trend. It is concluded that the lower binding energy surface component originates from the alkali atom bonded Si atoms. The origin of the higher binding energy component was determined based on trends in the peak height and final-state DFT calculations. It was found that this component derives from several atoms in the first and second layers. Calculations which include final-state effects were found to be in good agreement with the experimentally determined surface core-level shifts.
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| 6. |
- Jelenkovic, A, et al.
(författare)
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Genetic and environmental influences on height from infancy to early adulthood: An individual-based pooled analysis of 45 twin cohorts
- 2016
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Ingår i: Scientific reports. - London, United Kingdom : Springer Science and Business Media LLC. - 2045-2322. ; 6, s. 28496-
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Tidskriftsartikel (refereegranskat)abstract
- Height variation is known to be determined by both genetic and environmental factors, but a systematic description of how their influences differ by sex, age and global regions is lacking. We conducted an individual-based pooled analysis of 45 twin cohorts from 20 countries, including 180,520 paired measurements at ages 1–19 years. The proportion of height variation explained by shared environmental factors was greatest in early childhood, but these effects remained present until early adulthood. Accordingly, the relative genetic contribution increased with age and was greatest in adolescence (up to 0.83 in boys and 0.76 in girls). Comparing geographic-cultural regions (Europe, North-America and Australia and East-Asia), genetic variance was greatest in North-America and Australia and lowest in East-Asia, but the relative proportion of genetic variation was roughly similar across these regions. Our findings provide further insights into height variation during childhood and adolescence in populations representing different ethnicities and exposed to different environments.
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| 7. |
- Kanoni, Stavroula, et al.
(författare)
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Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.
- 2022
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Ingår i: Genome biology. - : Springer Science and Business Media LLC. - 1474-760X .- 1465-6906 .- 1474-7596. ; 23:1
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Tidskriftsartikel (refereegranskat)abstract
- Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery.To expand our understanding of the underlying biological pathways and mechanisms controlling blood lipid levels, we leverage a large multi-ancestry meta-analysis (N=1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches. Using phenome-wide association (PheWAS) scans, we identify relationships of genetically predicted lipid levels to other diseases and conditions. We confirm known pleiotropic associations with cardiovascular phenotypes and determine novel associations, notably with cholelithiasis risk. We perform sex-stratified GWAS meta-analysis of lipid levels and show that 3-5% of autosomal lipid-associated loci demonstrate sex-biased effects. Finally, we report 21 novel lipid loci identified on the X chromosome. Many of the sex-biased autosomal and X chromosome lipid loci show pleiotropic associations with sex hormones, emphasizing the role of hormone regulation in lipid metabolism.Taken together, our findings provide insights into the biological mechanisms through which associated variants lead to altered lipid levels and potentially cardiovascular disease risk.
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| 9. |
- Lee, BK, et al.
(författare)
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Developmental vitamin D and autism spectrum disorders: findings from the Stockholm Youth Cohort
- 2021
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Ingår i: Molecular psychiatry. - : Springer Science and Business Media LLC. - 1476-5578 .- 1359-4184. ; 26:5, s. 1578-1588
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Tidskriftsartikel (refereegranskat)abstract
- Animal studies indicate that early life vitamin D is crucial for proper neurodevelopment. Few studies have examined whether maternal and neonatal vitamin D concentrations influence risk of autism spectrum disorders (ASD). Participants were sampled from the Stockholm Youth Cohort, a register-based cohort in Sweden. Concentrations of total 25-hydroxyvitamin D (25OHD) were assessed from maternal and neonatal biosamples using a highly sensitive liquid chromatography tandem mass spectrometry method. The maternal sample consisted of 449 ASD cases and 574 controls, the neonatal sample: 1399 ASD cases and 1607 controls; and the paired maternal-neonatal sample: 340 ASD cases and 426 controls. Maternal 25OHD was not associated with child ASD in the overall sample. However, in Nordic-born mothers, maternal 25OHD insufficiency (25 − <50 nmol/L) at ~11 weeks gestation was associated with 1.58 times higher odds of ASD (95% CI: 1.00, 2.49) as compared with 25OHD sufficiency (≥50 nmol/L). Neonatal 25OHD < 25 nmol/L was associated with 1.33 times higher odds of ASD (95% CI: 1.02, 1.75) as compared with 25OHD ≥ 50 nmol/L. Sibling-matched control analyses indicated these associations were not likely due to familial confounding. Children with both maternal 25OHD and neonatal 25OHD below the median had 1.75 (95% CI: 1.08, 2.86) times the odds of ASD compared with children with maternal and neonatal 25OHD both below the median. Our results are consistent with an increasing body of evidence suggesting that vitamin D concentrations in early life may be associated with increased risk of neurodevelopmental disorders including ASD.
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