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  • 1
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    Rare mutations associating with serum creatinine and chronic kidney disease (2014)
    Oxford University Press
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    Publication Date: 2014-11-27
    Description: Chronic kidney disease (CKD) is a complex disorder with a strong genetic component. A number of common sequence variants have been found to associate with serum creatinine (SCr), estimated glomerular filtration rate (eGFR) and/or CKD. We imputed 24 million single-nucleotide polymorphisms and insertions/deletions identified by whole-genome sequencing of 2230 Icelanders into 81 656 chip-typed individuals and 112 630 relatives of genotyped individuals over the age of 18 with SCr measurements. The large set of sequenced individuals allowed accurate imputation of variants to a minor allele frequency (MAF) of 0.1%. We tested the imputed variants for association with SCr. In addition to replicating established loci, we discovered missense and loss-of-function variants associating with SCr in three solute carriers ( SLC6A19 , SLC25A45  and SLC47A1 ) and two E3 ubiquitin ligases ( RNF186 and RNF128 ). All the variants are within coding sequences and all but one are rare (MAF 〈2%) with SCr effects between 0.085 and 0.129 standard deviations. These rare variants have a larger effect on SCr than previously reported common variants, explaining 0.5% of the variability of SCr in Icelanders in addition to the 1% already accounted for. We tested the five variants associating with SCr for association with CKD in an Icelandic sample of 15 594 cases and 291 428 controls. Three of the variants also associated with CKD. These variants may either affect kidney function or creatinine synthesis and excretion. Of note were four mutations in SLC6A19 that associate with reduced SCr, three of which have been shown to cause Hartnup disease.
    Print ISSN: 0964-6906
    Electronic ISSN: 1460-2083
    Topics: Biology , Medicine
    Published by Oxford University Press
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  • 2
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    Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer (2014)
    Rafnar, T., Sulem, P., Thorleifsson, G., Vermeulen, S. H., Helgason, H., Saemundsdottir, J., Gudjonsson, S. A., Sigurdsson, A., Stacey, S. N., Gudmundsson, J., Johannsdottir, H., Alexiusdottir, K., Petursdottir, V., Nikulasson, S., Geirsson, G., Jonsson, T., Aben, K. K. H., Grotenhuis, A. J., Verhaegh, G. W., Dudek, A. M., Witjes, J. A., van der Heijden, A. G., Vrieling, A., Galesloot, T. E., De Juan, A., Panadero, A., Rivera, F., Hurst, C., Bishop, D. T., Sak, S. C., Choudhury, A., Teo, M. T. W., Arici, C., Carta, A., Toninelli, E., de Verdier, P., Rudnai, P., Gurzau, E., Koppova, K., van der Keur, K. A., Lurkin, I., Goossens, M., Kellen, E., Guarrera, S., Russo, A., Critelli, R., Sacerdote, C., Vineis, P., Krucker, C., Zeegers, M. P., Gerullis, H., Ovsiannikov, D., Volkert, F., Hengstler, J. G., Selinski, S., Magnusson, O. T., Masson, G., Kong, A., Gudbjartsson, D., Lindblom, A., Zwarthoff, E., Porru, S., Golka, K., Buntinx, F., Matullo, G., Kumar, R., Mayordomo, J. I., Steineck, D. G., Kiltie, A. E., Jonsson, E., Radvanyi, F., Knowles, M. A., Thorsteinsdottir, U., Kiemeney, L. A., Stefansson, K.
    Oxford University Press
    Details
    Publication Date: 2014-09-20
    Description: Genome-wide association studies (GWAS) of urinary bladder cancer (UBC) have yielded common variants at 12 loci that associate with risk of the disease. We report here the results of a GWAS of UBC including 1670 UBC cases and 90 180 controls, followed by replication analysis in additional 5266 UBC cases and 10 456 controls. We tested a dataset containing 34.2 million variants, generated by imputation based on whole-genome sequencing of 2230 Icelanders. Several correlated variants at 20p12, represented by rs62185668, show genome-wide significant association with UBC after combining discovery and replication results (OR = 1.19, P = 1.5 x 10 –11 for rs62185668-A, minor allele frequency = 23.6%). The variants are located in a non-coding region approximately 300 kb upstream from the JAG1 gene, an important component of the Notch signaling pathways that may be oncogenic or tumor suppressive in several forms of cancer. Our results add to the growing number of UBC risk variants discovered through GWAS.
    Print ISSN: 0964-6906
    Electronic ISSN: 1460-2083
    Topics: Biology , Medicine
    Published by Oxford University Press
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  • 3
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    Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer (2016)
    Oxford University Press
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    Publication Date: 2016-02-16
    Description: Transcriptional and splicing anomalies have been observed in intron 8 of the CASP8 gene (encoding procaspase-8) in association with cutaneous basal-cell carcinoma (BCC) and linked to a germline SNP rs700635. Here, we show that the rs700635[C] allele, which is associated with increased risk of BCC and breast cancer, is protective against prostate cancer [odds ratio (OR) = 0.91, P = 1.0 x 10 –6 ]. rs700635[C] is also associated with failures to correctly splice out CASP8 intron 8 in breast and prostate tumours and in corresponding normal tissues. Investigation of rs700635[C] carriers revealed that they have a human-specific short interspersed element-variable number of tandem repeat- Alu (SINE-VNTR- Alu ), subfamily-E retrotransposon (SVA-E) inserted into CASP8 intron 8. The SVA-E shows evidence of prior activity, because it has transduced some CASP8 sequences during subsequent retrotransposition events. Whole-genome sequence (WGS) data were used to tag the SVA-E with a surrogate SNP rs1035142[T] ( r 2 = 0.999), which showed associations with both the splicing anomalies ( P = 6.5 x 10 –32 ) and with protection against prostate cancer (OR = 0.91, P = 3.8 x 10 –7 ).
    Print ISSN: 0964-6906
    Electronic ISSN: 1460-2083
    Topics: Biology , Medicine
    Published by Oxford University Press
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  • 4
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    Structural changes of an abasic site in duplex DNA affect noncovalent binding of the spin label c (2012)
    Oxford University Press
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    Publication Date: 2012-04-24
    Description: The influence of structural changes of an abasic site in duplex DNA on noncovalent and site-directed spin labeling (NC-SDSL) of the spin label ç were examined with electron paramagnetic resonance (EPR) spectroscopy. The binding affinities of ç to sixteen different DNA duplexes containing all possible sequences immediately flanking the abasic site were determined and the results showed that the binding of ç is highly flanking-sequence dependent. In general, a 5'-dG nucleotide favors the binding of the spin label. In particular, 5'-d(G__T) was the best binding sequence whereas 5'-d(C__T) showed the lowest affinity. Changing the structure of the abasic site linker from a tetrahydrofuran analog ( F ) to the anucleosidic C 3 -spacer ( C 3 ) does not appreciably affect the binding of ç to the abasic site. For efficient binding of ç , the abasic site needs to be located at least four base pairs away from the duplex end. Introducing a methyl substituent at N3 of ç did not change the binding affinity, but a decreased binding was observed for both N3-ethyl and -propyl groups. These results will guide the design of abasic site receptors and spin label ligands for NC-SDSL of nucleic acids.
    Print ISSN: 0305-1048
    Electronic ISSN: 1362-4962
    Topics: Biology
    Published by Oxford University Press
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  • 5
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    Large recurrent microdeletions associated with schizophrenia (2008)
    Nature Publishing Group (NPG)
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    Publication Date: 2008-08-01
    Description: Reduced fecundity, associated with severe mental disorders, places negative selection pressure on risk alleles and may explain, in part, why common variants have not been found that confer risk of disorders such as autism, schizophrenia and mental retardation. Thus, rare variants may account for a larger fraction of the overall genetic risk than previously assumed. In contrast to rare single nucleotide mutations, rare copy number variations (CNVs) can be detected using genome-wide single nucleotide polymorphism arrays. This has led to the identification of CNVs associated with mental retardation and autism. In a genome-wide search for CNVs associating with schizophrenia, we used a population-based sample to identify de novo CNVs by analysing 9,878 transmissions from parents to offspring. The 66 de novo CNVs identified were tested for association in a sample of 1,433 schizophrenia cases and 33,250 controls. Three deletions at 1q21.1, 15q11.2 and 15q13.3 showing nominal association with schizophrenia in the first sample (phase I) were followed up in a second sample of 3,285 cases and 7,951 controls (phase II). All three deletions significantly associate with schizophrenia and related psychoses in the combined sample. The identification of these rare, recurrent risk variants, having occurred independently in multiple founders and being subject to negative selection, is important in itself. CNV analysis may also point the way to the identification of additional and more prevalent risk variants in genes and pathways involved in schizophrenia.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2687075/" 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/PMC2687075/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Stefansson, Hreinn -- Rujescu, Dan -- Cichon, Sven -- Pietilainen, Olli P H -- Ingason, Andres -- Steinberg, Stacy -- Fossdal, Ragnheidur -- Sigurdsson, Engilbert -- Sigmundsson, Thordur -- Buizer-Voskamp, Jacobine E -- Hansen, Thomas -- Jakobsen, Klaus D -- Muglia, Pierandrea -- Francks, Clyde -- Matthews, Paul M -- Gylfason, Arnaldur -- Halldorsson, Bjarni V -- Gudbjartsson, Daniel -- Thorgeirsson, Thorgeir E -- Sigurdsson, Asgeir -- Jonasdottir, Adalbjorg -- Jonasdottir, Aslaug -- Bjornsson, Asgeir -- Mattiasdottir, Sigurborg -- Blondal, Thorarinn -- Haraldsson, Magnus -- Magnusdottir, Brynja B -- Giegling, Ina -- Moller, Hans-Jurgen -- Hartmann, Annette -- Shianna, Kevin V -- Ge, Dongliang -- Need, Anna C -- Crombie, Caroline -- Fraser, Gillian -- Walker, Nicholas -- Lonnqvist, Jouko -- Suvisaari, Jaana -- Tuulio-Henriksson, Annamarie -- Paunio, Tiina -- Toulopoulou, Timi -- Bramon, Elvira -- Di Forti, Marta -- Murray, Robin -- Ruggeri, Mirella -- Vassos, Evangelos -- Tosato, Sarah -- Walshe, Muriel -- Li, Tao -- Vasilescu, Catalina -- Muhleisen, Thomas W -- Wang, August G -- Ullum, Henrik -- Djurovic, Srdjan -- Melle, Ingrid -- Olesen, Jes -- Kiemeney, Lambertus A -- Franke, Barbara -- GROUP -- Sabatti, Chiara -- Freimer, Nelson B -- Gulcher, Jeffrey R -- Thorsteinsdottir, Unnur -- Kong, Augustine -- Andreassen, Ole A -- Ophoff, Roel A -- Georgi, Alexander -- Rietschel, Marcella -- Werge, Thomas -- Petursson, Hannes -- Goldstein, David B -- Nothen, Markus M -- Peltonen, Leena -- Collier, David A -- St Clair, David -- Stefansson, Kari -- 089061/Wellcome Trust/United Kingdom -- G0901310/Medical Research Council/United Kingdom -- PDA/02/06/016/Department of Health/United Kingdom -- R01 MH078075/MH/NIMH NIH HHS/ -- R01MH71425-01A1/MH/NIMH NIH HHS/ -- England -- Nature. 2008 Sep 11;455(7210):232-6. doi: 10.1038/nature07229.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉CNS Division, deCODE genetics, Sturlugata 8, IS-101 Reykjavik, Iceland.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/18668039" target="_blank"〉PubMed〈/a〉
    Keywords: China ; Chromosomes, Human, Pair 1/genetics ; Chromosomes, Human, Pair 15/genetics ; Europe ; Gene Dosage/genetics ; Genetic Predisposition to Disease/*genetics ; Genome, Human/genetics ; Genotype ; Humans ; Loss of Heterozygosity ; Models, Genetic ; Polymorphism, Single Nucleotide/genetics ; Psychotic Disorders/genetics ; Schizophrenia/*genetics ; Sequence Deletion/*genetics
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Published by Nature Publishing Group (NPG)
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  • 6
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    Parental origin of sequence variants associated with complex diseases (2009)
    Nature Publishing Group (NPG)
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    Publication Date: 2009-12-18
    Description: Effects of susceptibility variants may depend on from which parent they are inherited. Although many associations between sequence variants and human traits have been discovered through genome-wide associations, the impact of parental origin has largely been ignored. Here we show that for 38,167 Icelanders genotyped using single nucleotide polymorphism (SNP) chips, the parental origin of most alleles can be determined. For this we used a combination of genealogy and long-range phasing. We then focused on SNPs that associate with diseases and are within 500 kilobases of known imprinted genes. Seven independent SNP associations were examined. Five-one with breast cancer, one with basal-cell carcinoma and three with type 2 diabetes-have parental-origin-specific associations. These variants are located in two genomic regions, 11p15 and 7q32, each harbouring a cluster of imprinted genes. Furthermore, we observed a novel association between the SNP rs2334499 at 11p15 and type 2 diabetes. Here the allele that confers risk when paternally inherited is protective when maternally transmitted. We identified a differentially methylated CTCF-binding site at 11p15 and demonstrated correlation of rs2334499 with decreased methylation of that site.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3746295/" 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/PMC3746295/" 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 -- Steinthorsdottir, Valgerdur -- Masson, Gisli -- Thorleifsson, Gudmar -- Sulem, Patrick -- Besenbacher, Soren -- Jonasdottir, Aslaug -- Sigurdsson, Asgeir -- Kristinsson, Kari Th -- Jonasdottir, Adalbjorg -- Frigge, Michael L -- Gylfason, Arnaldur -- Olason, Pall I -- Gudjonsson, Sigurjon A -- Sverrisson, Sverrir -- Stacey, Simon N -- Sigurgeirsson, Bardur -- Benediktsdottir, Kristrun R -- Sigurdsson, Helgi -- Jonsson, Thorvaldur -- Benediktsson, Rafn -- Olafsson, Jon H -- Johannsson, Oskar Th -- Hreidarsson, Astradur B -- Sigurdsson, Gunnar -- DIAGRAM Consortium -- Ferguson-Smith, Anne C -- Gudbjartsson, Daniel F -- Thorsteinsdottir, Unnur -- Stefansson, Kari -- 077016/Wellcome Trust/United Kingdom -- 090532/Wellcome Trust/United Kingdom -- G9723500/Medical Research Council/United Kingdom -- K08 AR055688/AR/NIAMS NIH HHS/ -- MC_U106179471/Medical Research Council/United Kingdom -- MC_U106179474/Medical Research Council/United Kingdom -- MC_U127592696/Medical Research Council/United Kingdom -- R01 DK029867/DK/NIDDK NIH HHS/ -- England -- Nature. 2009 Dec 17;462(7275):868-74. doi: 10.1038/nature08625.〈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/20016592" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Binding Sites ; Breast Neoplasms/genetics ; Carcinoma, Basal Cell/genetics ; Chromosomes, Human, Pair 11/genetics ; Chromosomes, Human, Pair 7/genetics ; DNA Methylation/genetics ; Diabetes Mellitus, Type 2/genetics ; *Fathers ; Female ; Genetic Predisposition to Disease/*genetics ; Genome, Human/genetics ; Genomic Imprinting/genetics ; Haplotypes ; Humans ; Iceland ; Male ; *Mothers ; Pedigree ; Polymorphism, Single Nucleotide/*genetics ; Repressor Proteins/metabolism
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
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  • 7
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    Fine-scale recombination rate differences between sexes, populations and individuals (2010)
    Nature Publishing Group (NPG)
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    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
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  • 8
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    The amount of recycled crust in sources of mantle-derived melts (2007)
    American Association for the Advancement of Science (AAAS)
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    Publication Date: 2007-03-31
    Description: Plate tectonic processes introduce basaltic crust (as eclogite) into the peridotitic mantle. The proportions of these two sources in mantle melts are poorly understood. Silica-rich melts formed from eclogite react with peridotite, converting it to olivine-free pyroxenite. Partial melts of this hybrid pyroxenite are higher in nickel and silicon but poorer in manganese, calcium, and magnesium than melts of peridotite. Olivine phenocrysts' compositions record these differences and were used to quantify the contributions of pyroxenite-derived melts in mid-ocean ridge basalts (10 to 30%), ocean island and continental basalts (many 〉60%), and komatiites (20 to 30%). These results imply involvement of 2 to 20% (up to 28%) of recycled crust in mantle melting.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Sobolev, Alexander V -- Hofmann, Albrecht W -- Kuzmin, Dmitry V -- Yaxley, Gregory M -- Arndt, Nicholas T -- Chung, Sun-Lin -- Danyushevsky, Leonid V -- Elliott, Tim -- Frey, Frederick A -- Garcia, Michael O -- Gurenko, Andrey A -- Kamenetsky, Vadim S -- Kerr, Andrew C -- Krivolutskaya, Nadezhda A -- Matvienkov, Vladimir V -- Nikogosian, Igor K -- Rocholl, Alexander -- Sigurdsson, Ingvar A -- Sushchevskaya, Nadezhda M -- Teklay, Mengist -- New York, N.Y. -- Science. 2007 Apr 20;316(5823):412-7. Epub 2007 Mar 29.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Max Planck Institute (MPI) for Chemistry, Post Office Box 3060, 55020 Mainz, Germany. sobolev@geokhi.ru〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/17395795" target="_blank"〉PubMed〈/a〉
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 9
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    A common variant on chromosome 9p21 affects the risk of myocardial infarction (2007)
    American Association for the Advancement of Science (AAAS)
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    Publication Date: 2007-05-05
    Description: The global endemic of cardiovascular diseases calls for improved risk assessment and treatment. Here, we describe an association between myocardial infarction (MI) and a common sequence variant on chromosome 9p21. This study included a total of 4587 cases and 12,767 controls. The identified variant, adjacent to the tumor suppressor genes CDKN2A and CDKN2B, was associated with the disease with high significance. Approximately 21% of individuals in the population are homozygous for this variant, and their estimated risk of suffering myocardial infarction is 1.64 times as great as that of noncarriers. The corresponding risk is 2.02 times as great for early-onset cases. The population attributable risk is 21% for MI in general and 31% for early-onset cases.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Helgadottir, Anna -- Thorleifsson, Gudmar -- Manolescu, Andrei -- Gretarsdottir, Solveig -- Blondal, Thorarinn -- Jonasdottir, Aslaug -- Jonasdottir, Adalbjorg -- Sigurdsson, Asgeir -- Baker, Adam -- Palsson, Arnar -- Masson, Gisli -- Gudbjartsson, Daniel F -- Magnusson, Kristinn P -- Andersen, Karl -- Levey, Allan I -- Backman, Valgerdur M -- Matthiasdottir, Sigurborg -- Jonsdottir, Thorbjorg -- Palsson, Stefan -- Einarsdottir, Helga -- Gunnarsdottir, Steinunn -- Gylfason, Arnaldur -- Vaccarino, Viola -- Hooper, W Craig -- Reilly, Muredach P -- Granger, Christopher B -- Austin, Harland -- Rader, Daniel J -- Shah, Svati H -- Quyyumi, Arshed A -- Gulcher, Jeffrey R -- Thorgeirsson, Gudmundur -- Thorsteinsdottir, Unnur -- Kong, Augustine -- Stefansson, Kari -- New York, N.Y. -- Science. 2007 Jun 8;316(5830):1491-3. Epub 2007 May 3.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉deCODE genetics, Sturlugata 8, IS-101 Reykjavik, Iceland.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/17478679" target="_blank"〉PubMed〈/a〉
    Keywords: Age of Onset ; Aged ; Case-Control Studies ; Chromosome Mapping ; Chromosomes, Human, Pair 9/*genetics ; Coronary Artery Disease/genetics ; Female ; Genes, p16 ; *Genetic Predisposition to Disease ; *Genetic Variation ; Genotype ; Haplotypes ; Heterozygote ; Homozygote ; Humans ; Linkage Disequilibrium ; Male ; Middle Aged ; Myocardial Infarction/*genetics ; *Polymorphism, Single Nucleotide ; Risk Factors
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 10
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    Rate of de novo mutations and the importance of father's age to disease risk (2012)
    Nature Publishing Group (NPG)
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    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
    Published by Nature Publishing Group (NPG)
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