| 1. |
- Blaj, Teodora, 1979-, et al.
(author)
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The Oligocene nannolith Sphenolithus evolutionary lineage : morphometrical insights from the palaeo-equatorial Pacific Ocean
- 2010
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In: Journal of Micropalaeontology. - : Copernicus GmbH. - 0262-821X .- 2041-4978. ; :29, s. 17-35
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Journal article (peer-reviewed)abstract
- Changes in morphology within the biostratigraphically important Oligocene nannofossil lineage, Sphenolithus predistentus-distentus-ciperoensis, were investigated in carbonate sediments from the paleo-equatorial Pacific Ocean Site 1218 in order to determine the nature of this evolutionary lineage. Using differences in their morphology and stratigraphic ranges, the aim of this study was to determine whether this set of sphenolith species represents an anagenetic evolutionary lineage or a set of discrete species with overlapping geological ranges. 1000 specimens were analysed morphometrically and the basal ratio (the ratio between the proximal cycle height and basal width), was identified as a key parameter for study of this lineage. We conclude that S. distentus and S. predistentus are intergradational species forming an anagenetic lineage but that S. ciperoensis is a discrete species which evolved relatively abruptly in the Late Oligocene.
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| 2. |
- Leu, Monica, et al.
(author)
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NordicDB : a Nordic pool and portal for genome-wide control data
- 2010
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In: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 18:12, s. 1322-1326
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Journal article (peer-reviewed)abstract
- A cost-efficient way to increase power in a genetic association study is to pool controls from different sources. The genotyping effort can then be directed to large case series. The Nordic Control database, NordicDB, has been set up as a unique resource in the Nordic area and the data are available for authorized users through the web portal (http://www.nordicdb.org). The current version of NordicDB pools together high-density genome-wide SNP information from similar to 5000 controls originating from Finnish, Swedish and Danish studies and shows country-specific allele frequencies for SNP markers. The genetic homogeneity of the samples was investigated using multidimensional scaling (MDS) analysis and pairwise allele frequency differences between the studies. The plot of the first two MDS components showed excellent resemblance to the geographical placement of the samples, with a clear NW-SE gradient. We advise researchers to assess the impact of population structure when incorporating NordicDB controls in association studies. This harmonized Nordic database presents a unique genome-wide resource for future genetic association studies in the Nordic countries. European Journal of Human Genetics (2010) 18, 1322-1326; doi: 10.1038/ejhg.2010.112; published online 28 July 2010
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| 3. |
- Leu, Monica, 1977, et al.
(author)
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NordicDB: A Nordic pool and portal for genome-wide control data
- 2010
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In: European Journal of Human Genetics. - 1018-4813 .- 1476-5438. ; 18:12, s. 1322-6
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Journal article (peer-reviewed)abstract
- A cost-efficient way to increase power in a genetic association study is to pool controls from different sources. The genotyping effort can then be directed to large case series. The Nordic Control database, NordicDB, has been set up as a unique resource in the Nordic area and the data are available for authorized users through the web portal (http://www.nordicdb.org). The current version of NordicDB pools together high-density genome-wide SNP information from ∼5000 controls originating from Finnish, Swedish and Danish studies and shows country-specific allele frequencies for SNP markers. The genetic homogeneity of the samples was investigated using multidimensional scaling (MDS) analysis and pairwise allele frequency differences between the studies. The plot of the first two MDS components showed excellent resemblance to the geographical placement of the samples, with a clear NW–SE gradient. We advise researchers to assess the impact of population structure when incorporating NordicDB controls in association studies. This harmonized Nordic database presents a unique genome-wide resource for future genetic association studies in the Nordic countries.
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| 4. |
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| 5. |
- Scott, Robert A., et al.
(author)
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Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways
- 2012
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:9, s. 991-1005
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Journal article (peer-reviewed)abstract
- Through genome-wide association meta-analyses of up to 133,010 individuals of European ancestry without diabetes, including individuals newly genotyped using the Metabochip, we have increased the number of confirmed loci influencing glycemic traits to 53, of which 33 also increase type 2 diabetes risk (q < 0.05). Loci influencing fasting insulin concentration showed association with lipid levels and fat distribution, suggesting impact on insulin resistance. Gene-based analyses identified further biologically plausible loci, suggesting that additional loci beyond those reaching genome-wide significance are likely to represent real associations. This conclusion is supported by an excess of directionally consistent and nominally significant signals between discovery and follow-up studies. Functional analysis of these newly discovered loci will further improve our understanding of glycemic control.
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| 6. |
- Smedby, Karin E., et al.
(author)
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GWAS of Follicular Lymphoma Reveals Allelic Heterogeneity at 6p21.32 and Suggests Shared Genetic Susceptibility with Diffuse Large B-cell Lymphoma
- 2011
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In: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 7:4, s. e1001378-
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Journal article (peer-reviewed)abstract
- Non-Hodgkin lymphoma (NHL) represents a diverse group of hematological malignancies, of which follicular lymphoma (FL) is a prevalent subtype. A previous genome-wide association study has established a marker, rs10484561 in the human leukocyte antigen (HLA) class II region on 6p21.32 associated with increased FL risk. Here, in a three-stage genome-wide association study, starting with a genome-wide scan of 379 FL cases and 791 controls followed by validation in 1,049 cases and 5,790 controls, we identified a second independent FL-associated locus on 6p21.32, rs2647012 (ORcombined = 0.64, P-combined= 2x10(-21)) located 962 bp away from rs10484561 (r(2)< 0.1 in controls). After mutual adjustment, the associations at the two SNPs remained genome-wide significant (rs2647012: ORadjusted = 0.70, P-adjusted= 4x10(-12); rs10484561: ORadjusted = 1.64, P-adjusted= 5x10(-15)). Haplotype and coalescence analyses indicated that rs2647012 arose on an evolutionarily distinct haplotype from that of rs10484561 and tags a novel allele with an opposite (protective) effect on FL risk. Moreover, in a follow-up analysis of the top 6 FL-associated SNPs in 4,449 cases of other NHL subtypes, rs10484561 was associated with risk of diffuse large B-cell lymphoma (ORcombined = 1.36, P-combined = 1.4x10(-7)). Our results reveal the presence of allelic heterogeneity within the HLA class II region influencing FL susceptibility and indicate a possible shared genetic etiology with diffuse large B-cell lymphoma. These findings suggest that the HLA class II region plays a complex yet important role in NHL.
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| 7. |
- Stolk, Lisette, et al.
(author)
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Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways
- 2012
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:3, s. 260-268
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Journal article (peer-reviewed)abstract
- To newly identify loci for age at natural menopause, we carried out a meta-analysis of 22 genome-wide association studies (GWAS) in 38,968 women of European descent, with replication in up to 14,435 women. In addition to four known loci, we identified 13 loci newly associated with age at natural menopause (at P < 5 × 10(-8)). Candidate genes located at these newly associated loci include genes implicated in DNA repair (EXO1, HELQ, UIMC1, FAM175A, FANCI, TLK1, POLG and PRIM1) and immune function (IL11, NLRP11 and PRRC2A (also known as BAT2)). Gene-set enrichment pathway analyses using the full GWAS data set identified exoDNase, NF-κB signaling and mitochondrial dysfunction as biological processes related to timing of menopause.
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| 8. |
- Tas, Sinem, et al.
(author)
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Advanced manufacturing: three-dimensional printing and bioprinting of models of lung and airways
- 2022
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In: 3D Lung Models for Regenerating Lung Tissue. - 9780323908719 - 9780323908726 ; , s. 171-195
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Book chapter (peer-reviewed)abstract
- Recent advances in materials science coupled with advanced manufacturing techniques have opened up new possibilities for generating sophisticated models of lung and airways containing cells. These models can be used for studying normal tissue homeostasis as well as for modeling lung development, disease, and regeneration. Three-dimensional (3D) printing has emerged as a leading advanced manufacturing technique for generating models as well as producing clinically relevant constructs. In fact, 3D-printed, cell-free support structures have already been used clinically in a few case reports for airways. While 3D bioprinting is poised to play a major role in both preclinical and clinical science, only a few constructs containing cells have been made to date. Preclinical models of 3D-bioprinted tracheas containing cells show promise, but there is a paucity of reports for distal lung, owing to a lack of bioinks. This chapter discusses the use of advanced manufacturing to bioengineer 3D constructs for lung and airways.
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