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| 2. |
- Aulchenko, Yurii S, et al.
(författare)
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Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts
- 2009
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 41:1, s. 47-55
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Tidskriftsartikel (refereegranskat)abstract
- Recent genome-wide association (GWA) studies of lipids have been conducted in samples ascertained for other phenotypes, particularly diabetes. Here we report the first GWA analysis of loci affecting total cholesterol (TC), low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol and triglycerides sampled randomly from 16 population-based cohorts and genotyped using mainly the Illumina HumanHap300-Duo platform. Our study included a total of 17,797-22,562 persons, aged 18-104 years and from geographic regions spanning from the Nordic countries to Southern Europe. We established 22 loci associated with serum lipid levels at a genome-wide significance level (P < 5 x 10(-8)), including 16 loci that were identified by previous GWA studies. The six newly identified loci in our cohort samples are ABCG5 (TC, P = 1.5 x 10(-11); LDL, P = 2.6 x 10(-10)), TMEM57 (TC, P = 5.4 x 10(-10)), CTCF-PRMT8 region (HDL, P = 8.3 x 10(-16)), DNAH11 (LDL, P = 6.1 x 10(-9)), FADS3-FADS2 (TC, P = 1.5 x 10(-10); LDL, P = 4.4 x 10(-13)) and MADD-FOLH1 region (HDL, P = 6 x 10(-11)). For three loci, effect sizes differed significantly by sex. Genetic risk scores based on lipid loci explain up to 4.8% of variation in lipids and were also associated with increased intima media thickness (P = 0.001) and coronary heart disease incidence (P = 0.04). The genetic risk score improves the screening of high-risk groups of dyslipidemia over classical risk factors.
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- Prokopenko, Inga, et al.
(författare)
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Variants in MTNR1B influence fasting glucose levels
- 2009
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 41:1, s. 77-81
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Tidskriftsartikel (refereegranskat)abstract
- To identify previously unknown genetic loci associated with fasting glucose concentrations, we examined the leading association signals in ten genome-wide association scans involving a total of 36,610 individuals of European descent. Variants in the gene encoding melatonin receptor 1B (MTNR1B) were consistently associated with fasting glucose across all ten studies. The strongest signal was observed at rs10830963, where each G allele (frequency 0.30 in HapMap CEU) was associated with an increase of 0.07 (95% CI = 0.06-0.08) mmol/l in fasting glucose levels (P = 3.2 x 10(-50)) and reduced beta-cell function as measured by homeostasis model assessment (HOMA-B, P = 1.1 x 10(-15)). The same allele was associated with an increased risk of type 2 diabetes (odds ratio = 1.09 (1.05-1.12), per G allele P = 3.3 x 10(-7)) in a meta-analysis of 13 case-control studies totaling 18,236 cases and 64,453 controls. Our analyses also confirm previous associations of fasting glucose with variants at the G6PC2 (rs560887, P = 1.1 x 10(-57)) and GCK (rs4607517, P = 1.0 x 10(-25)) loci.
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| 4. |
- Estrada, Karol, et al.
(författare)
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A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation.
- 2009
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Ingår i: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 18:18, s. 3516-24
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Tidskriftsartikel (refereegranskat)abstract
- Northwestern Europeans are among the tallest of human populations. The increase in body height in these people appears to have reached a plateau, suggesting the ubiquitous presence of an optimal environment in which genetic factors may have exerted a particularly strong influence on human growth. Therefore, we performed a genome-wide association study (GWAS) of body height using 2.2 million markers in 10 074 individuals from three Dutch and one German population-based cohorts. Upon genotyping, the 12 most significantly height-associated single nucleotide polymorphisms (SNPs) from this GWAS in 6912 additional individuals of Dutch and Swedish origin, a genetic variant (rs6717918) on chromosome 2q37.1 was found to be associated with height at a genome-wide significance level (P(combined) = 3.4 x 10(-9)). Notably, a second SNP (rs6718438) located approximately 450 bp away and in strong LD (r(2) = 0.77) with rs6717918 was previously found to be suggestive of a height association in 29 820 individuals of mainly northwestern European ancestry, and the over-expression of a nearby natriuretic peptide precursor type C (NPPC) gene, has been associated with overgrowth and skeletal anomalies. We also found a SNP (rs10472828) located on 5p14 near the natriuretic peptide receptor 3 (NPR3) gene, encoding a receptor of the NPPC ligand, to be associated with body height (P(combined) = 2.1 x 10(-7)). Taken together, these results suggest that variation in the C-type natriuretic peptide signaling pathway, involving the NPPC and NPR3 genes, plays an important role in determining human body height.
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| 6. |
- Mabala, G. K., et al.
(författare)
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Shears band with a large dynamic moment of inertia in Bi-197
- 2005
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Ingår i: European Physical Journal A. - : Springer Science and Business Media LLC. - 1434-6001 .- 1434-601X. ; 25:1, s. 49-55
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Tidskriftsartikel (refereegranskat)abstract
- High-spin states in Bi-197 were studied with the AFRODITE gamma-ray array at iThemba LABS using the Ta-181(Ne-22, 6n) reaction at a beam energy of 125 MeV. A new shears band was found and linked to the low-lying states in Bi-197. Its dynamic moment of inertia, F (2), is considerably larger than the ((2)) of the shears bands in the neighbouring Pb isotopes. This is probably a result of the involvement of an additional high-K h(9/2) proton orbital.
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| 8. |
- Smit, Jeroen M., et al.
(författare)
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Clinical experience with the nasolabial fold as receptor site in microvascular reconstruction
- 2007
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Ingår i: Microsurgery. - : Wiley. - 0738-1085 .- 1098-2752. ; 27:7, s. 608-611
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Tidskriftsartikel (refereegranskat)abstract
- We report our experience using the vessels at the nasolabial fold as receptor site in free tissue transfer in head and neck reconstructions; a site that proved more convenient than the submandibulary site in selected cases. Six cases as well as the dissection technique of the nasolabial fold are reported. No complications occurred during or post surgery and in all cases the vessels were of adequate diameter for an end to end anastomosis. The advantages this site offers are discussed.
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| 9. |
- Smit, Jeroen M., et al.
(författare)
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Early reintervention of compromised free flaps improves success rate
- 2007
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Ingår i: Microsurgery. - : Wiley. - 0738-1085 .- 1098-2752. ; 27:7, s. 612-616
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Tidskriftsartikel (refereegranskat)abstract
- INTRODUCTION AND AIM: To develop a protocolized monitor schedule in microvascular free flap reconstruction, we investigated a possible correlation between the outcome and the interval between clamp release and start of revision. MATERIALS AND METHODS: All the charts of patients treated between 2000 and 2006 with a free flap were evaluated. The patients who underwent a flap revision were further analyzed. RESULTS: A total of 608 free flaps were evaluated; 69 of these flaps were revised. Most vascular complications took place within the first 24 h; the latest complication was observed 8 days after surgery. After 6 days post surgery, the number of revisions decreased considerably. With regard to the salvaged flaps the mean time to start the revision was 46.5 h (SD 39). With regard to the failed revisions, the mean time to start the revision was 82.0 h (SD 47). This difference proved significant (P = 0.006). CONCLUSION: Our data shows that the majority of anastomotic failures occur within the first 24 h. Thereafter, the frequency of failures decreases. We also found that the time between initial reconstruction and start of the salvage procedure influences the outcome of the revision negatively.
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| 10. |
- Smit, Jeroen M., et al.
(författare)
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The Nasolabial Fold as Potential Vascular Receptor Site : An Anatomic Study
- 2009
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Ingår i: Journal of reconstructive microsurgery. - : Georg Thieme Verlag KG. - 0743-684X .- 1098-8947. ; 25:9, s. 539-543
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Tidskriftsartikel (refereegranskat)abstract
- Free and pedicled flaps are frequently used in reconstruction of the lower two-thirds of the face. For these reconstructions, the submandibular facial vessels are extensively used as a receptor site. In this anatomic study, we investigate if the facial vessels in the nasolabial fold can be used as a receptor site as well. In 13 human cadavers, the facial artery and vein were dissected in the nasolabial fold in the same way as would be done during surgery. The case of dissection and length, diameter, and location of the vessels were analyzed. The average length of the dissected artery was 28 mm (+/- 11 standard deviations [SD]) and of the dissected vein, 19 mm (+/- 6 SD). The mean diameter of the artery was 1.5 mm (+/- 0.4 SD) and 2.5 mm (+/- 0.8 SD) for the vein. In 85% of the sides, both vessels were suitable to use as a microsurgical receptor site. The easy access and the measured diameter of the facial vessels in the nasolabial fold make it a potential site for microsurgical anastomosis.
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