ALBERT

All Library Books, journals and Electronic Records Telegrafenberg

feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Proceed order?

Export
  • 1
    Publication Date: 2007-08-11
    Description: Glaucoma is a leading cause of irreversible blindness. A genome-wide search yielded multiple single-nucleotide polymorphisms (SNPs) in the 15q24.1 region associated with glaucoma. Further investigation revealed that the association is confined to exfoliation glaucoma (XFG). Two nonsynonymous SNPs in exon 1 of the gene LOXL1 explain the association, and the data suggest that they confer risk of XFG mainly through exfoliation syndrome (XFS). About 25% of the general population is homozygous for the highest-risk haplotype, and their risk of suffering from XFG is more than 100 times that of individuals carrying only low-risk haplotypes. The population-attributable risk is more than 99%. The product of LOXL1 catalyzes the formation of elastin fibers found to be a major component of the lesions in XFG.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Thorleifsson, Gudmar -- Magnusson, Kristinn P -- Sulem, Patrick -- Walters, G Bragi -- Gudbjartsson, Daniel F -- Stefansson, Hreinn -- Jonsson, Thorlakur -- Jonasdottir, Adalbjorg -- Jonasdottir, Aslaug -- Stefansdottir, Gerdur -- Masson, Gisli -- Hardarson, Gudmundur A -- Petursson, Hjorvar -- Arnarsson, Arsaell -- Motallebipour, Mehdi -- Wallerman, Ola -- Wadelius, Claes -- Gulcher, Jeffrey R -- Thorsteinsdottir, Unnur -- Kong, Augustine -- Jonasson, Fridbert -- Stefansson, Kari -- New York, N.Y. -- Science. 2007 Sep 7;317(5843):1397-400. Epub 2007 Aug 9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉deCODE genetics Inc, 101 Reykjavik, Iceland.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/17690259" target="_blank"〉PubMed〈/a〉
    Keywords: Adipose Tissue/metabolism ; Amino Acid Oxidoreductases/*genetics ; Case-Control Studies ; Chi-Square Distribution ; Exfoliation Syndrome/*genetics ; Female ; Gene Expression ; *Genetic Predisposition to Disease ; Genotype ; Glaucoma/*genetics ; Glaucoma, Open-Angle/genetics ; Humans ; Iceland ; Male ; Polymorphism, Single Nucleotide
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
  • 2
    Publication Date: 2013-12-20
    Description: In a small fraction of patients with schizophrenia or autism, alleles of copy-number variants (CNVs) in their genomes are probably the strongest factors contributing to the pathogenesis of the disease. These CNVs may provide an entry point for investigations into the mechanisms of brain function and dysfunction alike. They are not fully penetrant and offer an opportunity to study their effects separate from that of manifest disease. Here we show in an Icelandic sample that a few of the CNVs clearly alter fecundity (measured as the number of children by age 45). Furthermore, we use various tests of cognitive function to demonstrate that control subjects carrying the CNVs perform at a level that is between that of schizophrenia patients and population controls. The CNVs do not all affect the same cognitive domains, hence the cognitive deficits that drive or accompany the pathogenesis vary from one CNV to another. Controls carrying the chromosome 15q11.2 deletion between breakpoints 1 and 2 (15q11.2(BP1-BP2) deletion) have a history of dyslexia and dyscalculia, even after adjusting for IQ in the analysis, and the CNV only confers modest effects on other cognitive traits. The 15q11.2(BP1-BP2) deletion affects brain structure in a pattern consistent with both that observed during first-episode psychosis in schizophrenia and that of structural correlates in dyslexia.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Stefansson, Hreinn -- Meyer-Lindenberg, Andreas -- Steinberg, Stacy -- Magnusdottir, Brynja -- Morgen, Katrin -- Arnarsdottir, Sunna -- Bjornsdottir, Gyda -- Walters, G Bragi -- Jonsdottir, Gudrun A -- Doyle, Orla M -- Tost, Heike -- Grimm, Oliver -- Kristjansdottir, Solveig -- Snorrason, Heimir -- Davidsdottir, Solveig R -- Gudmundsson, Larus J -- Jonsson, Gudbjorn F -- Stefansdottir, Berglind -- Helgadottir, Isafold -- Haraldsson, Magnus -- Jonsdottir, Birna -- Thygesen, Johan H -- Schwarz, Adam J -- Didriksen, Michael -- Stensbol, Tine B -- Brammer, Michael -- Kapur, Shitij -- Halldorsson, Jonas G -- Hreidarsson, Stefan -- Saemundsen, Evald -- Sigurdsson, Engilbert -- Stefansson, Kari -- G0701748/Medical Research Council/United Kingdom -- England -- Nature. 2014 Jan 16;505(7483):361-6. doi: 10.1038/nature12818. Epub 2013 Dec 18.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉1] deCODE genetics/Amgen, Sturlugata 8, IS-101 Reykjavik, Iceland [2]. ; 1] Central Institute of Mental Health, University of Heidelberg Medical Faculty Mannheim, 68159 Mannheim, Germany [2]. ; deCODE genetics/Amgen, Sturlugata 8, IS-101 Reykjavik, Iceland. ; Landspitali, Department of Psychiatry, National University Hospital, IS-101 Reykjavik, Iceland. ; Central Institute of Mental Health, University of Heidelberg Medical Faculty Mannheim, 68159 Mannheim, Germany. ; 1] deCODE genetics/Amgen, Sturlugata 8, IS-101 Reykjavik, Iceland [2] Landspitali, Department of Psychiatry, National University Hospital, IS-101 Reykjavik, Iceland. ; Institute of Psychiatry, King's College, 16 De Crespigny Park, London SE5 8AF, UK. ; 1] Landspitali, Department of Psychiatry, National University Hospital, IS-101 Reykjavik, Iceland [2] University of Iceland, Faculty of Medicine, University of Iceland, IS-101 Reykjavik, Iceland. ; Rontgen Domus, Egilsgotu 3, IS-101 Reykjavik, Iceland. ; Mental Health Centre Sct. Hans, Copenhagen University Hospital, Research Institute of Biological Psychiatry, Boserupvej 2, DK-4000 Roskilde, Denmark. ; Tailored Therapeutics, Lilly Research Laboratories, Eli Lilly and Company, Lilly Corporate Center DC 1940, Indianapolis, Indiana 46285, USA. ; H. Lundbeck A/S, Ottiliavej 9, DK-2500 Valby, Denmark. ; University of Iceland, Faculty of Medicine, University of Iceland, IS-101 Reykjavik, Iceland. ; The State Diagnostic and Counselling Centre, Digranesvegur 5, IS-200 Kopavogur, Iceland. ; 1] University of Iceland, Faculty of Medicine, University of Iceland, IS-101 Reykjavik, Iceland [2] The State Diagnostic and Counselling Centre, Digranesvegur 5, IS-200 Kopavogur, Iceland.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/24352232" target="_blank"〉PubMed〈/a〉
    Keywords: Adolescent ; Adult ; Aged ; Autistic Disorder/*genetics ; Brain/abnormalities/anatomy & histology/metabolism ; Case-Control Studies ; Chromosome Deletion ; Chromosomes, Human/genetics ; Chromosomes, Human, Pair 15/genetics ; Cognition/*physiology ; DNA Copy Number Variations/*genetics ; Dyslexia/genetics ; Female ; Fertility/genetics ; *Genetic Predisposition to Disease ; Heterozygote ; Humans ; Iceland ; Learning Disorders/genetics ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Neuropsychological Tests ; Phenotype ; Schizophrenia/*genetics ; Young Adult
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
  • 3
    Publication Date: 2010-10-29
    Description: Meiotic recombinations contribute to genetic diversity by yielding new combinations of alleles. Recently, high-resolution recombination maps were inferred from high-density single-nucleotide polymorphism (SNP) data using linkage disequilibrium (LD) patterns that capture historical recombination events. The use of these maps has been demonstrated by the identification of recombination hotspots and associated motifs, and the discovery that the PRDM9 gene affects the proportion of recombinations occurring at hotspots. However, these maps provide no information about individual or sex differences. Moreover, locus-specific demographic factors like natural selection can bias LD-based estimates of recombination rate. Existing genetic maps based on family data avoid these shortcomings, but their resolution is limited by relatively few meioses and a low density of markers. Here we used genome-wide SNP data from 15,257 parent-offspring pairs to construct the first recombination maps based on directly observed recombinations with a resolution that is effective down to 10 kilobases (kb). Comparing male and female maps reveals that about 15% of hotspots in one sex are specific to that sex. Although male recombinations result in more shuffling of exons within genes, female recombinations generate more new combinations of nearby genes. We discover novel associations between recombination characteristics of individuals and variants in the PRDM9 gene and we identify new recombination hotspots. Comparisons of our maps with two LD-based maps inferred from data of HapMap populations of Utah residents with ancestry from northern and western Europe (CEU) and Yoruba in Ibadan, Nigeria (YRI) reveal population differences previously masked by noise and map differences at regions previously described as targets of natural selection.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kong, Augustine -- Thorleifsson, Gudmar -- Gudbjartsson, Daniel F -- Masson, Gisli -- Sigurdsson, Asgeir -- Jonasdottir, Aslaug -- Walters, G Bragi -- Jonasdottir, Adalbjorg -- Gylfason, Arnaldur -- Kristinsson, Kari Th -- Gudjonsson, Sigurjon A -- Frigge, Michael L -- Helgason, Agnar -- Thorsteinsdottir, Unnur -- Stefansson, Kari -- England -- Nature. 2010 Oct 28;467(7319):1099-103. doi: 10.1038/nature09525.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland. kong@decode.is〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/20981099" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Chromosomes, Human/*genetics ; DNA-Binding Proteins/genetics ; Europe/ethnology ; Exons/genetics ; Female ; Genetics, Population ; Haplotypes/genetics ; Heterozygote ; Histone-Lysine N-Methyltransferase/genetics ; Humans ; Linkage Disequilibrium/genetics ; Male ; Meiosis/genetics ; Nigeria/ethnology ; Pedigree ; Polymorphism, Single Nucleotide/genetics ; Recombination, Genetic/*genetics ; Sample Size ; Selection, Genetic/genetics ; *Sex Characteristics ; Utah
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
  • 4
    Publication Date: 2008-03-18
    Description: Common human diseases result from the interplay of many genes and environmental factors. Therefore, a more integrative biology approach is needed to unravel the complexity and causes of such diseases. To elucidate the complexity of common human diseases such as obesity, we have analysed the expression of 23,720 transcripts in large population-based blood and adipose tissue cohorts comprehensively assessed for various phenotypes, including traits related to clinical obesity. In contrast to the blood expression profiles, we observed a marked correlation between gene expression in adipose tissue and obesity-related traits. Genome-wide linkage and association mapping revealed a highly significant genetic component to gene expression traits, including a strong genetic effect of proximal (cis) signals, with 50% of the cis signals overlapping between the two tissues profiled. Here we demonstrate an extensive transcriptional network constructed from the human adipose data that exhibits significant overlap with similar network modules constructed from mouse adipose data. A core network module in humans and mice was identified that is enriched for genes involved in the inflammatory and immune response and has been found to be causally associated to obesity-related traits.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Emilsson, Valur -- Thorleifsson, Gudmar -- Zhang, Bin -- Leonardson, Amy S -- Zink, Florian -- Zhu, Jun -- Carlson, Sonia -- Helgason, Agnar -- Walters, G Bragi -- Gunnarsdottir, Steinunn -- Mouy, Magali -- Steinthorsdottir, Valgerdur -- Eiriksdottir, Gudrun H -- Bjornsdottir, Gyda -- Reynisdottir, Inga -- Gudbjartsson, Daniel -- Helgadottir, Anna -- Jonasdottir, Aslaug -- Jonasdottir, Adalbjorg -- Styrkarsdottir, Unnur -- Gretarsdottir, Solveig -- Magnusson, Kristinn P -- Stefansson, Hreinn -- Fossdal, Ragnheidur -- Kristjansson, Kristleifur -- Gislason, Hjortur G -- Stefansson, Tryggvi -- Leifsson, Bjorn G -- Thorsteinsdottir, Unnur -- Lamb, John R -- Gulcher, Jeffrey R -- Reitman, Marc L -- Kong, Augustine -- Schadt, Eric E -- Stefansson, Kari -- England -- Nature. 2008 Mar 27;452(7186):423-8. doi: 10.1038/nature06758. Epub 2008 Mar 16.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉deCODE genetics, 101 Reykjavik, Iceland.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/18344981" target="_blank"〉PubMed〈/a〉
    Keywords: Adipose Tissue/metabolism ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Animals ; Blood/metabolism ; Body Mass Index ; Cohort Studies ; European Continental Ancestry Group/genetics ; Female ; *Gene Expression Profiling ; Gene Expression Regulation/*genetics ; Genome, Human ; Humans ; Iceland ; Lod Score ; Male ; Mice ; Middle Aged ; Obesity/*genetics ; Polymorphism, Single Nucleotide/genetics ; Quantitative Trait Loci/genetics ; Sample Size ; Waist-Hip Ratio
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
  • 5
    Publication Date: 2012-08-24
    Description: Mutations generate sequence diversity and provide a substrate for selection. The rate of de novo mutations is therefore of major importance to evolution. Here we conduct a study of genome-wide mutation rates by sequencing the entire genomes of 78 Icelandic parent-offspring trios at high coverage. We show that in our samples, with an average father's age of 29.7, the average de novo mutation rate is 1.20 x 10(-8) per nucleotide per generation. Most notably, the diversity in mutation rate of single nucleotide polymorphisms is dominated by the age of the father at conception of the child. The effect is an increase of about two mutations per year. An exponential model estimates paternal mutations doubling every 16.5 years. After accounting for random Poisson variation, father's age is estimated to explain nearly all of the remaining variation in the de novo mutation counts. These observations shed light on the importance of the father's age on the risk of diseases such as schizophrenia and autism.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548427/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548427/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kong, Augustine -- Frigge, Michael L -- Masson, Gisli -- Besenbacher, Soren -- Sulem, Patrick -- Magnusson, Gisli -- Gudjonsson, Sigurjon A -- Sigurdsson, Asgeir -- Jonasdottir, Aslaug -- Jonasdottir, Adalbjorg -- Wong, Wendy S W -- Sigurdsson, Gunnar -- Walters, G Bragi -- Steinberg, Stacy -- Helgason, Hannes -- Thorleifsson, Gudmar -- Gudbjartsson, Daniel F -- Helgason, Agnar -- Magnusson, Olafur Th -- Thorsteinsdottir, Unnur -- Stefansson, Kari -- MH071425/MH/NIMH NIH HHS/ -- R01 MH071425/MH/NIMH NIH HHS/ -- England -- Nature. 2012 Aug 23;488(7412):471-5. doi: 10.1038/nature11396.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland. kong@decode.is〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/22914163" target="_blank"〉PubMed〈/a〉
    Keywords: Adult ; Autistic Disorder/epidemiology/etiology/*genetics ; Chromosomes, Human/genetics ; Female ; *Genetic Predisposition to Disease ; Genome, Human/genetics ; Humans ; Iceland/epidemiology ; Male ; Middle Aged ; Mothers ; *Mutation Rate ; Ovum/metabolism ; *Paternal Age ; Pedigree ; Polymorphism, Single Nucleotide/genetics ; Risk Factors ; Schizophrenia/epidemiology/etiology/*genetics ; Selection, Genetic/genetics ; Sequence Analysis, DNA ; Spermatozoa/metabolism ; Young Adult
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
  • 6
    Publication Date: 2013-05-07
    Description: Low bone mineral density (BMD) is used as a parameter of osteoporosis. Genome-wide association studies of BMD have hitherto focused on BMD as a quantitative trait, yielding common variants of small effects that contribute to the population diversity in BMD. Here we use BMD as a dichotomous trait, searching for variants that may have a direct effect on the risk of pathologically low BMD rather than on the regulation of BMD in the healthy population. Through whole-genome sequencing of Icelandic individuals, we found a rare nonsense mutation within the leucine-rich-repeat-containing G-protein-coupled receptor 4 (LGR4) gene (c.376C〉T) that is strongly associated with low BMD, and with osteoporotic fractures. This mutation leads to termination of LGR4 at position 126 and fully disrupts its function. The c.376C〉T mutation is also associated with electrolyte imbalance, late onset of menarche and reduced testosterone levels, as well as an increased risk of squamous cell carcinoma of the skin and biliary tract cancer. Interestingly, the phenotype of carriers of the c.376C〉T mutation overlaps that of Lgr4 mutant mice.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Styrkarsdottir, Unnur -- Thorleifsson, Gudmar -- Sulem, Patrick -- Gudbjartsson, Daniel F -- Sigurdsson, Asgeir -- Jonasdottir, Aslaug -- Jonasdottir, Adalbjorg -- Oddsson, Asmundur -- Helgason, Agnar -- Magnusson, Olafur T -- Walters, G Bragi -- Frigge, Michael L -- Helgadottir, Hafdis T -- Johannsdottir, Hrefna -- Bergsteinsdottir, Kristin -- Ogmundsdottir, Margret H -- Center, Jacqueline R -- Nguyen, Tuan V -- Eisman, John A -- Christiansen, Claus -- Steingrimsson, Erikur -- Jonasson, Jon G -- Tryggvadottir, Laufey -- Eyjolfsson, Gudmundur I -- Theodors, Asgeir -- Jonsson, Thorvaldur -- Ingvarsson, Thorvaldur -- Olafsson, Isleifur -- Rafnar, Thorunn -- Kong, Augustine -- Sigurdsson, Gunnar -- Masson, Gisli -- Thorsteinsdottir, Unnur -- Stefansson, Kari -- HL-102923/HL/NHLBI NIH HHS/ -- HL-102924/HL/NHLBI NIH HHS/ -- HL-102925/HL/NHLBI NIH HHS/ -- HL-102926/HL/NHLBI NIH HHS/ -- HL-103010/HL/NHLBI NIH HHS/ -- England -- Nature. 2013 May 23;497(7450):517-20. doi: 10.1038/nature12124. Epub 2013 May 5.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉deCODE Genetics/Amgen, 101 Reykjavik, Iceland. unnurth@decode.is〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/23644456" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Australia ; Biliary Tract Neoplasms/*genetics ; Bone Density/*genetics ; Carcinoma, Squamous Cell/*genetics ; Codon, Nonsense/*genetics ; Denmark ; Down-Regulation/genetics ; Female ; Heterozygote ; Humans ; Iceland ; Male ; Menarche/genetics ; Mice ; Mice, Knockout ; Osteoporotic Fractures/*genetics ; Phenotype ; Receptors, G-Protein-Coupled/chemistry/deficiency/*genetics/metabolism ; Skin Neoplasms/*genetics ; Testosterone/analysis ; Water-Electrolyte Imbalance/*genetics
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
  • 7
    Publication Date: 2007-09-07
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...